#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
ARHGEF16	27237	broad.mit.edu	37	1	3389705	3389705	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:3389705C>T	ENST00000378378.4	+	7	1491	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	ARHGEF16_ENST00000413250.2_Silent_p.I66I|ARHGEF16_ENST00000378371.2_Silent_p.I74I|ARHGEF16_ENST00000378373.1_Silent_p.I74I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	362	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I362I(1)|p.I74I(1)|p.I66I(1)		lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCAGTGACATCCTGGAGGAGC	0.622																																						uc001akg.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(1084-1086)ATC>ATT		Rho guanine exchange factor 16							153.0	110.0	125.0					1																	3389705		2203	4300	6503	SO:0001819	synonymous_variant	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3389705C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1086C>T	1.37:g.3389705C>T						ARHGEF16_uc001aki.2_Silent_p.I74I|ARHGEF16_uc001akj.2_Silent_p.I74I|ARHGEF16_uc009vli.1_Silent_p.I66I|ARHGEF16_uc010nzh.1_Silent_p.I66I	p.I362I	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	7	1334	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	362			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	c.1086C>T	CCDS46.2																																																																																				PASS	0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		12	24	12	24	---	---	---	---
H6PD	9563	broad.mit.edu	37	1	9323660	9323660	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:9323660C>A	ENST00000377403.2	+	5	1410	c.1108C>A	c.(1108-1110)Cgg>Agg	p.R370R	H6PD_ENST00000602477.1_Silent_p.R381R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	370	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.R370R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCTACGCTCGGATCTTGTT	0.617																																						uc001apt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1108-1110)CGG>AGG		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						84.0	89.0	87.0					1																	9323660		2203	4300	6503	SO:0001819	synonymous_variant	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323660C>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1108C>A	1.37:g.9323660C>A							p.R370R	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1381	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	370			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	c.1108C>A	CCDS101.1																																																																																				PASS	0.617	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		4	45	4	45	---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10228233	10228233	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:10228233G>A	ENST00000253251.8	+	23	3690	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	UBE4B_ENST00000343090.6_Missense_Mutation_p.E1080K|UBE4B_ENST00000377157.3_Missense_Mutation_p.E835K					ubiquitination factor E4B									p.E951K(1)|p.E1080K(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCTCAGGATGAGCGTGTGTC	0.587																																						uc001aqs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(3238-3240)GAG>AAG		ubiquitination factor E4B isoform 1							106.0	85.0	92.0					1																	10228233		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10228233G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2851G>A	1.37:g.10228233G>A	ENSP00000253251:p.Glu951Lys					UBE4B_uc001aqr.3_Missense_Mutation_p.E951K|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.E535K|UBE4B_uc001aqu.2_5'Flank	p.E1080K	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	24	3951	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1080						Missense_Mutation	SNP	ENST00000253251.8	37	c.3238G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512715	0.96402	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.46063	0.88;0.88;0.88	5.2	5.2	0.72013	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.75020	0.985;0.831	T	0.65142	-0.6240	10	0.40728	T	0.16	-21.3458	18.7638	0.91864	0.0:0.0:1.0:0.0	.	1080;951	O95155;O95155-2	UBE4B_HUMAN;.	K	951;835;1080	ENSP00000253251:E951K;ENSP00000366362:E835K;ENSP00000343001:E1080K	ENSP00000253251:E951K	E	+	1	0	UBE4B	10150820	1.000000	0.71417	0.992000	0.48379	0.759000	0.43091	9.860000	0.99555	2.426000	0.82243	0.563000	0.77884	GAG		PASS	0.587	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		10	42	10	42	---	---	---	---
C1orf127	148345	broad.mit.edu	37	1	11015097	11015097	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:11015097T>C	ENST00000377008.4	-	8	870	c.424A>G	c.(424-426)Aag>Gag	p.K142E	C1orf127_ENST00000377004.4_Missense_Mutation_p.K309E			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	142								p.K309E(1)|p.K142E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAAAGTCCTTGTTCTCAGTC	0.557																																						uc010oao.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(478-480)AAG>GAG		hypothetical protein LOC148345							101.0	94.0	97.0					1																	11015097		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11015097T>C	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.424A>G	1.37:g.11015097T>C	ENSP00000366207:p.Lys142Glu					C1orf127_uc001arr.1_Missense_Mutation_p.K142E|C1orf127_uc001ars.1_Missense_Mutation_p.K160E	p.K160E	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	5	483	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	160					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.478A>G		.	.	.	.	.	.	.	.	.	.	T	15.22	2.768504	0.49680	.	.	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.27256	1.68;1.68	4.69	0.86	0.19042	.	0.538297	0.14700	N	0.303617	T	0.12987	0.0315	N	0.14661	0.345	0.09310	N	1	B;B;B	0.29552	0.248;0.248;0.248	B;B;B	0.28991	0.097;0.097;0.097	T	0.19353	-1.0308	10	0.59425	D	0.04	-4.7893	4.9904	0.14211	0.0:0.176:0.156:0.668	.	160;160;142	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	E	309;142	ENSP00000366203:K309E;ENSP00000366207:K142E	ENSP00000366203:K309E	K	-	1	0	C1orf127	10937684	0.010000	0.17322	0.002000	0.10522	0.043000	0.13939	0.258000	0.18387	-0.107000	0.12088	0.459000	0.35465	AAG		PASS	0.557	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		21	26	21	26	---	---	---	---
CELA2A	63036	broad.mit.edu	37	1	15792535	15792535	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:15792535C>G	ENST00000359621.4	+	6	560	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.L179V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGCCGGTTGCTGGTTGTGGA	0.572																																						uc001awk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(535-537)CTG>GTG		elastase 2A preproprotein							157.0	153.0	154.0					1																	15792535		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15792535C>G		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.535C>G	1.37:g.15792535C>G	ENSP00000352639:p.Leu179Val						p.L179V	NM_033440	NP_254275	P08217	CEL2A_HUMAN			6	561	+			179			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.535C>G	CCDS157.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793066	0.50102	.	.	ENSG00000142615	ENST00000359621	D	0.88201	-2.35	3.61	3.61	0.41365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44688	U	0.000427	D	0.84097	0.5397	N	0.17764	0.52	0.80722	D	1	P	0.39782	0.688	B	0.44278	0.445	D	0.86615	0.1875	10	0.72032	D	0.01	.	14.0214	0.64558	0.0:1.0:0.0:0.0	.	179	P08217	CEL2A_HUMAN	V	179	ENSP00000352639:L179V	ENSP00000352639:L179V	L	+	1	2	CELA2A	15665122	1.000000	0.71417	0.937000	0.37676	0.771000	0.43674	4.517000	0.60503	1.859000	0.53934	0.461000	0.40582	CTG		PASS	0.572	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		116	76	116	76	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19491316	19491316	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:19491316G>T	ENST00000375254.3	-	32	4515	c.4488C>A	c.(4486-4488)acC>acA	p.T1496T	UBR4_ENST00000375226.2_Silent_p.T1496T|UBR4_ENST00000375217.2_Silent_p.T1496T|UBR4_ENST00000375267.2_Silent_p.T1496T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1496					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1496T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAATGTATGTGGTCAGTAACT	0.488																																						uc001bbi.2																			1	Substitution - coding silent(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4486-4488)ACC>ACA		retinoblastoma-associated factor 600							115.0	113.0	114.0					1																	19491316		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19491316G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4488C>A	1.37:g.19491316G>T						UBR4_uc001bbm.1_Silent_p.T707T	p.T1496T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	32	4492	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1496					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.4488C>A	CCDS189.1																																																																																				PASS	0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		7	121	7	121	---	---	---	---
ECE1	1889	broad.mit.edu	37	1	21571587	21571587	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:21571587G>A	ENST00000374893.6	-	10	1247	c.1173C>T	c.(1171-1173)aaC>aaT	p.N391N	ECE1_ENST00000357071.4_Silent_p.N379N|ECE1_ENST00000436918.2_Silent_p.N391N|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000264205.6_Silent_p.N388N|ECE1_ENST00000415912.2_Silent_p.N375N	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	391					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.N391N(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCATGTAGTTGTTGAGCAGGC	0.592											OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1171-1173)AAC>AAT		endothelin converting enzyme 1 isoform 1							98.0	81.0	86.0					1																	21571587		2203	4300	6503	SO:0001819	synonymous_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21571587G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1173C>T	1.37:g.21571587G>A			OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ECE1_uc001bem.2_Silent_p.N375N|ECE1_uc001bej.2_Silent_p.N379N|ECE1_uc001bei.2_Silent_p.N388N|ECE1_uc010odl.1_Silent_p.N391N|ECE1_uc009vqa.1_Silent_p.N391N	p.N391N	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	10	1248	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	391			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.1173C>T	CCDS215.1																																																																																				PASS	0.592	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		5	23	5	23	---	---	---	---
CELA3A	10136	broad.mit.edu	37	1	22336303	22336303	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:22336303C>T	ENST00000290122.3	+	7	767	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.P250S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATCTGGAAGCCCACGGTGTT	0.607																																						uc001bfl.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(748-750)CCC>TCC		elastase 3A, pancreatic preproprotein							78.0	70.0	73.0					1																	22336303		2203	4300	6503	SO:0001583	missense	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22336303C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.748C>T	1.37:g.22336303C>T	ENSP00000290122:p.Pro250Ser						p.P250S	NM_005747	NP_005738	P09093	CEL3A_HUMAN			7	767	+			250			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.748C>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823170	0.50739	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.91464	-2.85;-2.85	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95322	0.8482	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95834	0.8860	9	0.87932	D	0	-59.8241	12.8948	0.58093	0.0:1.0:0.0:0.0	.	250	P09093	CEL3A_HUMAN	S	250;58	ENSP00000290122:P250S;ENSP00000383130:P58S	ENSP00000290122:P250S	P	+	1	0	CELA3A	22208890	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	7.417000	0.80156	1.856000	0.53863	0.455000	0.32223	CCC		PASS	0.607	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		10	27	10	27	---	---	---	---
OPRD1	4985	broad.mit.edu	37	1	29189343	29189343	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:29189343G>A	ENST00000234961.2	+	3	909	c.667G>A	c.(667-669)Gtg>Atg	p.V223M		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	223					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.V223M(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTTCGCCTTCGTGGTGCCCAT	0.647																																						uc001brf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(667-669)GTG>ATG		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						149.0	107.0	121.0					1																	29189343		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189343G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.667G>A	1.37:g.29189343G>A	ENSP00000234961:p.Val223Met						p.V223M	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	909	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	223			Helical; Name=5; (Potential).		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.667G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613749	0.46631	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.74106	-0.81	4.16	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.073236	0.56097	D	0.000027	T	0.76919	0.4055	M	0.74389	2.26	0.52099	D	0.999949	P	0.47545	0.897	P	0.48425	0.577	T	0.76846	-0.2808	10	0.48119	T	0.1	.	10.637	0.45571	0.0:0.0:0.8066:0.1934	.	223	P41143	OPRD_HUMAN	M	223	ENSP00000234961:V223M	ENSP00000234961:V223M	V	+	1	0	OPRD1	29061930	1.000000	0.71417	0.949000	0.38748	0.972000	0.66771	2.639000	0.46570	0.909000	0.36697	0.462000	0.41574	GTG		PASS	0.647	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		14	10	14	10	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36509055	36509055	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:36509055G>T	ENST00000373191.4	+	17	2529	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I	AGO3_ENST00000246314.6_Missense_Mutation_p.R493I|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	727	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.R727I(1)									TAGGTTGGAAGAAGTGGCAAT	0.353																																						uc001bzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2179-2181)AGA>ATA		eukaryotic translation initiation factor 2C, 3							109.0	102.0	105.0					1																	36509055		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36509055G>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2180G>T	1.37:g.36509055G>T	ENSP00000362287:p.Arg727Ile					EIF2C3_uc001bzq.2_Missense_Mutation_p.R493I	p.R727I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			17	2436	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	727			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2180G>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182436	0.94885	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.31510	1.49;1.49	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	H	0.94503	3.545	0.80722	D	1	P	0.37525	0.598	P	0.45577	0.486	T	0.69250	-0.5194	10	0.87932	D	0	-4.8426	19.8405	0.96681	0.0:0.0:1.0:0.0	.	727	Q9H9G7	AGO3_HUMAN	I	727;493	ENSP00000362287:R727I;ENSP00000246314:R493I	ENSP00000246314:R493I	R	+	2	0	EIF2C3	36281642	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.652000	0.83633	2.692000	0.91855	0.655000	0.94253	AGA		PASS	0.353	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		6	47	6	47	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36509093	36509093	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:36509093G>T	ENST00000373191.4	+	17	2567	c.2218G>T	c.(2218-2220)Gac>Tac	p.D740Y	AGO3_ENST00000246314.6_Missense_Mutation_p.D506Y|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	740	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.D740Y(1)									AGTTGATACAGACATTACACA	0.353																																						uc001bzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2218-2220)GAC>TAC		eukaryotic translation initiation factor 2C, 3							134.0	124.0	128.0					1																	36509093		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36509093G>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2218G>T	1.37:g.36509093G>T	ENSP00000362287:p.Asp740Tyr					EIF2C3_uc001bzq.2_Missense_Mutation_p.D506Y	p.D740Y	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			17	2474	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	740			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2218G>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543009	0.86022	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.29917	1.55;1.55	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.41236	1.265	0.80722	D	1	P	0.34909	0.475	P	0.53266	0.722	T	0.40627	-0.9553	10	0.62326	D	0.03	-42.0809	19.8405	0.96681	0.0:0.0:1.0:0.0	.	740	Q9H9G7	AGO3_HUMAN	Y	740;506	ENSP00000362287:D740Y;ENSP00000246314:D506Y	ENSP00000246314:D506Y	D	+	1	0	EIF2C3	36281680	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.652000	0.83633	2.692000	0.91855	0.655000	0.94253	GAC		PASS	0.353	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		12	51	12	51	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36509117	36509117	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:36509117G>A	ENST00000373191.4	+	17	2591	c.2242G>A	c.(2242-2244)Gat>Aat	p.D748N	AGO3_ENST00000246314.6_Missense_Mutation_p.D514N|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	748	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.D748N(1)									ATATGAGTTCGATTTTTACCT	0.353																																						uc001bzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2242-2244)GAT>AAT		eukaryotic translation initiation factor 2C, 3							124.0	115.0	118.0					1																	36509117		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36509117G>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2242G>A	1.37:g.36509117G>A	ENSP00000362287:p.Asp748Asn					EIF2C3_uc001bzq.2_Missense_Mutation_p.D514N	p.D748N	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			17	2498	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	748			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2242G>A	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679283	0.96774	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.35789	1.29;1.29	5.85	5.85	0.93711	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	H	0.94183	3.505	0.80722	D	1	P	0.45634	0.863	P	0.54401	0.751	T	0.76375	-0.2982	10	0.87932	D	0	-0.4886	20.1634	0.98142	0.0:0.0:1.0:0.0	.	748	Q9H9G7	AGO3_HUMAN	N	748;514	ENSP00000362287:D748N;ENSP00000246314:D514N	ENSP00000246314:D514N	D	+	1	0	EIF2C3	36281704	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.773000	0.95371	0.655000	0.94253	GAT		PASS	0.353	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		9	54	9	54	---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38171130	38171130	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:38171130G>A	ENST00000373055.1	+	8	875	c.602G>A	c.(601-603)gGc>gAc	p.G201D	CDCA8_ENST00000327331.2_Missense_Mutation_p.G201D	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	201					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.G201D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGACCCCTGGCCTGCGTACT	0.507																																						uc001cbr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(601-603)GGC>GAC		cell division cycle associated 8							81.0	78.0	79.0					1																	38171130		2203	4300	6503	SO:0001583	missense	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38171130G>A	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.602G>A	1.37:g.38171130G>A	ENSP00000362146:p.Gly201Asp					CDCA8_uc001cbs.2_Missense_Mutation_p.G201D|CDCA8_uc010oih.1_Missense_Mutation_p.G134D	p.G201D	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN			9	709	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	201					D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	37	c.602G>A	CCDS424.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194572	0.78902	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.50548	0.74;0.74	5.77	5.77	0.91146	.	0.048538	0.85682	D	0.000000	T	0.64427	0.2597	L	0.57536	1.79	0.44595	D	0.997567	D	0.89917	1.0	D	0.87578	0.998	T	0.65869	-0.6063	10	0.87932	D	0	-22.0484	13.1209	0.59325	0.0:0.1607:0.8393:0.0	.	201	Q53HL2	BOREA_HUMAN	D	201	ENSP00000362146:G201D;ENSP00000316121:G201D	ENSP00000316121:G201D	G	+	2	0	CDCA8	37943717	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.076000	0.57591	2.721000	0.93114	0.655000	0.94253	GGC		PASS	0.507	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		30	63	30	63	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46488582	46488582	+	Splice_Site	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:46488582A>G	ENST00000361297.2	+	13	1707	c.1424A>G	c.(1423-1425)gAa>gGa	p.E475G	MAST2_ENST00000372009.2_Splice_Site_p.E405G	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.E475G(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTGTTTCCAGAAATGGCCCAG	0.473																																						uc001cov.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(1423-1425)GAA>GGA		microtubule associated serine/threonine kinase							144.0	140.0	141.0					1																	46488582		2052	4200	6252	SO:0001630	splice_region_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46488582A>G	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1424-1A>G	1.37:g.46488582A>G						MAST2_uc001cow.2_Missense_Mutation_p.E475G|MAST2_uc001coy.1_Missense_Mutation_p.E149G|MAST2_uc001coz.1_Missense_Mutation_p.E360G|MAST2_uc009vya.2_Missense_Mutation_p.E397G|MAST2_uc001cpa.2_RNA	p.E475G	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			13	1707	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		475						Missense_Mutation	SNP	ENST00000361297.2	37	c.1424A>G	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.000359	0.74818	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.37752	1.18;1.18;1.18	6.17	5.04	0.67666	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.104536	0.64402	D	0.000005	T	0.32734	0.0839	L	0.47716	1.5	0.58432	D	0.999998	B;B;B;B;B	0.25235	0.01;0.002;0.01;0.121;0.104	B;B;B;B;B	0.28465	0.044;0.003;0.044;0.069;0.09	T	0.06041	-1.0849	9	.	.	.	.	12.4759	0.55814	0.935:0.0:0.065:0.0	.	149;405;149;405;475	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	G	475;405;149;360	ENSP00000354671:E475G;ENSP00000361079:E405G;ENSP00000361078:E360G	.	E	+	2	0	MAST2	46261169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.069000	0.93967	1.144000	0.42321	0.533000	0.62120	GAA		PASS	0.473	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	Missense_Mutation	8	79	8	79	---	---	---	---
PGM1	5236	broad.mit.edu	37	1	64097450	64097450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:64097450G>T	ENST00000371084.3	+	4	892	c.679G>T	c.(679-681)Gga>Tga	p.G227*	PGM1_ENST00000540265.1_Nonsense_Mutation_p.G30*|PGM1_ENST00000371083.4_Nonsense_Mutation_p.G245*	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	227					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)	p.G245*(1)|p.G227*(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCTATGCATGGAGGTATACA	0.413																																						uc001dbh.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(679-681)GGA>TGA		phosphoglucomutase 1							179.0	154.0	162.0					1																	64097450		2203	4300	6503	SO:0001587	stop_gained	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64097450G>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.679G>T	1.37:g.64097450G>T	ENSP00000360125:p.Gly227*					PGM1_uc010ooy.1_Nonsense_Mutation_p.G30*|PGM1_uc010ooz.1_Nonsense_Mutation_p.G245*	p.G227*	NM_002633	NP_002624	P36871	PGM1_HUMAN			4	892	+			227					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Nonsense_Mutation	SNP	ENST00000371084.3	37	c.679G>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	G	40	8.428632	0.98808	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.8725	20.327	0.98704	0.0:0.0:1.0:0.0	.	.	.	.	X	203;227;30;245	.	ENSP00000360124:G245X	G	+	1	0	PGM1	63870038	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.823000	0.99369	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.413	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		42	106	42	106	---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64644214	64644214	+	Silent	SNP	G	G	A	rs146764088		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:64644214G>A	ENST00000371079.1	+	9	2865	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A	ROR1_ENST00000545203.1_Silent_p.A281A	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	830	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.A830A(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GATATGCAGCGTTTCCAGCTG	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		19047	0.0		0.001	False		,,,				2504	0.0					uc001dbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(2488-2490)GCG>GCA		receptor tyrosine kinase-like orphan receptor 1		A		3,4403	6.2+/-15.9	0,3,2200	73.0	66.0	68.0		2490	-12.3	0.0	1	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ROR1	NM_005012.2		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		830/938	64644214	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64644214G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2490G>A	1.37:g.64644214G>A						uc001dbm.2_5'Flank	p.A830A	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2889	+			830			Cytoplasmic (Potential).|Pro-rich.		Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	c.2490G>A	CCDS626.1																																																																																				PASS	0.562	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		17	37	17	37	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74929215	74929215	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:74929215G>A	ENST00000370899.3	+	23	2442	c.2405G>A	c.(2404-2406)gGg>gAg	p.G802E	TNNI3K_ENST00000370891.2_Missense_Mutation_p.G802E|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G701E|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G815E	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.G701E(1)									CTGATACGAGGGTGGAACGCA	0.443																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2101-2103)GGG>GAG		TNNI3 interacting kinase isoform b							146.0	131.0	136.0					1																	74929215		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74929215G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2405G>A	1.37:g.74929215G>A	ENSP00000359936:p.Gly802Glu					TNNI3K_uc001dgd.2_Missense_Mutation_p.G802E|TNNI3K_uc001dge.1_Missense_Mutation_p.G802E	p.G701E	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			21	2153	+			701			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.2102G>A		.	.	.	.	.	.	.	.	.	.	G	21.8	4.199342	0.79015	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.62	4.71	0.59529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	L	0.37697	1.125	0.58432	D	0.999998	D;D;D	0.63880	0.979;0.993;0.974	P;P;P	0.59889	0.815;0.865;0.719	T	0.82898	-0.0229	10	0.54805	T	0.06	.	13.9906	0.64364	0.0734:0.0:0.9266:0.0	.	701;802;802	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	E	802;802;802;701	ENSP00000359936:G802E;ENSP00000450895:G802E;ENSP00000359928:G802E;ENSP00000322251:G701E	ENSP00000322251:G701E	G	+	2	0	RP11-653A5.2;AC093158.1	74701803	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.286000	0.78671	1.367000	0.46095	0.655000	0.94253	GGG		PASS	0.443	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			31	84	31	84	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75065437	75065437	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:75065437G>T	ENST00000326665.5	-	11	1886	c.1668C>A	c.(1666-1668)gaC>gaA	p.D556E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D359E	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		556	Glu-rich.							p.D556E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTCACATTGTCACGGGCAT	0.413																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1666-1668)GAC>GAA		hypothetical protein LOC127254							269.0	242.0	252.0					1																	75065437		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065437G>T																												ENST00000326665.5:c.1668C>A	1.37:g.75065437G>T	ENSP00000322609:p.Asp556Glu					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D350E	p.D556E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	1887	-			556			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1668C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	2.313	-0.357485	0.05138	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19250	2.61;2.16	6.05	1.57	0.23409	.	.	.	.	.	T	0.06142	0.0159	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.27997	0.197;0.069	B;B	0.27887	0.062;0.084	T	0.32640	-0.9899	9	0.40728	T	0.16	-23.0756	6.7529	0.23497	0.0692:0.1127:0.5866:0.2315	.	359;556	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	556;359	ENSP00000322609:D556E;ENSP00000398581:D359E	ENSP00000322609:D556E	D	-	3	2	C1orf173	74838025	0.982000	0.34865	0.148000	0.22405	0.000000	0.00434	1.295000	0.33377	0.853000	0.35312	-0.133000	0.14855	GAC		PASS	0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			51	112	51	112	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510258	77510258	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:77510258C>A	ENST00000477717.1	+	3	866	c.631C>A	c.(631-633)Cag>Aag	p.Q211K		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	211					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.Q211K(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAAGATGCTGCAGTTTGATGA	0.567																																						uc001dhi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	pancreas(1)|skin(1)	2						c.(631-633)CAG>AAG		sialyltransferase 7E							117.0	118.0	118.0					1																	77510258		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510258C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.631C>A	1.37:g.77510258C>A	ENSP00000417583:p.Gln211Lys					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.Q211K	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	806	+			211			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.631C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	5.766	0.325713	0.10900	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.28666	1.6	5.46	5.46	0.80206	.	0.208574	0.51477	D	0.000096	T	0.12347	0.0300	N	0.16307	0.4	0.58432	D	0.999998	B	0.06786	0.001	B	0.17722	0.019	T	0.05500	-1.0881	10	0.29301	T	0.29	-36.9101	19.307	0.94167	0.0:1.0:0.0:0.0	.	211	Q9BVH7	SIA7E_HUMAN	K	211;121	ENSP00000417583:Q211K	ENSP00000436263:Q211K	Q	+	1	0	ST6GALNAC5	77282846	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.947000	0.70242	2.543000	0.85770	0.655000	0.94253	CAG		PASS	0.567	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		55	92	55	92	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89652027	89652027	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:89652027G>C	ENST00000355754.6	-	10	1793	c.1696C>G	c.(1696-1698)Cac>Gac	p.H566D	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	566						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.H566D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TTCAGCTTGTGTTTTAGCAGC	0.478																																						uc001dnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1696-1698)CAC>GAC		guanylate binding protein 4							187.0	142.0	157.0					1																	89652027		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652027G>C	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1696C>G	1.37:g.89652027G>C	ENSP00000359490:p.His566Asp						p.H566D	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	10	1812	-			566			Potential.		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1696C>G	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237733	0.39598	.	.	ENSG00000162654	ENST00000355754	T	0.02050	4.48	4.49	3.49	0.39957	Guanylate-binding protein, C-terminal (3);	0.238481	0.36555	N	0.002527	T	0.05364	0.0142	M	0.91140	3.18	0.09310	N	1	D	0.59357	0.985	D	0.66497	0.944	T	0.38045	-0.9679	10	0.19147	T	0.46	.	7.2021	0.25887	0.0:0.1837:0.6263:0.19	.	566	Q96PP9	GBP4_HUMAN	D	566	ENSP00000359490:H566D	ENSP00000359490:H566D	H	-	1	0	GBP4	89424615	0.000000	0.05858	0.792000	0.32020	0.043000	0.13939	0.288000	0.18939	2.462000	0.83206	0.561000	0.74099	CAC		PASS	0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		6	78	6	78	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98165061	98165061	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:98165061G>A	ENST00000370192.3	-	6	626	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	176					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.L176L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGGGGAGGCAGCGAAGGATTT	0.413																																						uc001drv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(526-528)CTG>TTG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						146.0	147.0	147.0					1																	98165061		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98165061G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.526C>T	1.37:g.98165061G>A						DPYD_uc010oub.1_RNA	p.L176L	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	663	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	176					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.526C>T	CCDS30777.1																																																																																				PASS	0.413	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		18	66	18	66	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114340245	114340245	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:114340245G>T	ENST00000261441.5	-	2	1180	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	373						nucleus (GO:0005634)		p.L373I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGCATGAAGGACAAGAGCA	0.368																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)CTT>ATT		round spermatid basic protein 1							47.0	45.0	46.0					1																	114340245		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114340245G>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1117C>A	1.37:g.114340245G>T	ENSP00000261441:p.Leu373Ile					RSBN1_uc001edr.2_RNA	p.L373I	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1153	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	373					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1117C>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026348	0.35701	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	N	0.24115	0.695	0.48696	D	0.999696	D	0.54964	0.969	P	0.55011	0.766	T	0.39603	-0.9606	9	0.28530	T	0.3	-9.3397	20.1346	0.98019	0.0:0.0:1.0:0.0	.	373	Q5VWQ0	RSBN1_HUMAN	I	373	.	ENSP00000261441:L373I	L	-	1	0	RSBN1	114141768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.149000	0.50655	2.765000	0.95021	0.655000	0.94253	CTT		PASS	0.368	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	32	4	32	---	---	---	---
DENND2C	163259	broad.mit.edu	37	1	115137122	115137122	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:115137122G>C	ENST00000393274.1	-	18	3028	c.2403C>G	c.(2401-2403)atC>atG	p.I801M	DENND2C_ENST00000393276.3_Missense_Mutation_p.I744M|DENND2C_ENST00000393277.1_Missense_Mutation_p.I689M|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	801					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I744M(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGAGTCAAGATTTCATTTC	0.383																																						uc001efd.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2401-2403)ATC>ATG		DENN/MADD domain containing 2C							154.0	148.0	150.0					1																	115137122		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115137122G>C		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2403C>G	1.37:g.115137122G>C	ENSP00000376955:p.Ile801Met					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.I744M	p.I801M	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3105	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	801					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2403C>G	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578181	0.65878	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.09255	3.65;3.58;3.0	5.91	0.857	0.19025	.	0.162251	0.53938	D	0.000047	T	0.09992	0.0245	L	0.59436	1.845	0.25412	N	0.988344	D;B	0.55172	0.97;0.054	P;B	0.61201	0.885;0.253	T	0.08126	-1.0737	10	0.72032	D	0.01	.	6.6251	0.22824	0.2488:0.0:0.6357:0.1156	.	801;744	Q68D51;Q68D51-3	DEN2C_HUMAN;.	M	744;801;801;689	ENSP00000376957:I744M;ENSP00000376955:I801M;ENSP00000376958:I689M	ENSP00000358553:I801M	I	-	3	3	DENND2C	114938645	1.000000	0.71417	0.936000	0.37596	0.983000	0.72400	0.560000	0.23500	-0.069000	0.12931	0.558000	0.71614	ATC		PASS	0.383	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		14	27	14	27	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118003163	118003163	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:118003163G>A	ENST00000356554.3	+	7	1738	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	335					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E335K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CATTCTGGCTGAATTTGGTAC	0.448																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GAA>AAA		mannosidase, alpha, class 1A, member 2							159.0	150.0	153.0					1																	118003163		2203	4300	6503	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118003163G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1003G>A	1.37:g.118003163G>A	ENSP00000348959:p.Glu335Lys					MAN1A2_uc009whg.1_Missense_Mutation_p.E125K	p.E335K	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	7	1724	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	335			Lumenal (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.1003G>A	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	35	5.452625	0.96223	.	.	ENSG00000198162	ENST00000356554;ENST00000369450	T	0.74209	-0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.931;0.996	D	0.93827	0.7124	10	0.87932	D	0	-10.4413	15.9761	0.80066	0.0:0.0:1.0:0.0	.	99;335	A6NLR2;O60476	.;MA1A2_HUMAN	K	335;99	ENSP00000348959:E335K	ENSP00000348959:E335K	E	+	1	0	MAN1A2	117804686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.724000	0.98775	2.354000	0.79902	0.655000	0.94253	GAA		PASS	0.448	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		20	35	20	35	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149906927	149906927	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:149906927C>A	ENST00000439741.2	-	5	670	c.420G>T	c.(418-420)ctG>ctT	p.L140L	MTMR11_ENST00000361405.6_Silent_p.L140L|MTMR11_ENST00000369140.3_Silent_p.L68L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.L112L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	140							phosphatase activity (GO:0016791)	p.L140L(1)|p.L68L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAACTCTGAGCAGCCGGAAGT	0.557																																						uc001etl.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(418-420)CTG>CTT		myotubularin related protein 11 isoform a							41.0	45.0	44.0					1																	149906927		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149906927C>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.420G>T	1.37:g.149906927C>A						MTMR11_uc001etm.1_Silent_p.L68L|MTMR11_uc010pbm.1_Silent_p.L112L|MTMR11_uc010pbn.1_5'UTR	p.L140L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	671	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		140					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.420G>T	CCDS53360.1																																																																																				PASS	0.557	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		32	30	32	30	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279085	152279085	+	Silent	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:152279085A>G	ENST00000368799.1	-	3	8312	c.8277T>C	c.(8275-8277)acT>acC	p.T2759T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2759	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T2759T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTCCTCTAGTGCTGGGCC	0.582									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8275-8277)ACT>ACC		filaggrin							95.0	131.0	119.0					1																	152279085		2196	4294	6490	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279085A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8277T>C	1.37:g.152279085A>G							p.T2759T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8313	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2759			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8277T>C	CCDS30860.1																																																																																				PASS	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	184	12	184	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732698	152732698	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:152732698C>T	ENST00000606109.1	+	1	662	c.634C>T	c.(634-636)Cct>Tct	p.P212S	KPRP_ENST00000368773.1_Missense_Mutation_p.P212S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	212						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P212S(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTTGAGGCCTTCCTACAG	0.567																																						uc001fal.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(634-636)CCT>TCT		keratinocyte proline-rich protein							159.0	158.0	158.0					1																	152732698		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732698C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.634C>T	1.37:g.152732698C>T	ENSP00000475216:p.Pro212Ser						p.P212S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	692	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		212						Missense_Mutation	SNP	ENST00000606109.1	37	c.634C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157514	0.06544	.	.	ENSG00000203786	ENST00000368773	T	0.11604	2.76	4.43	-6.93	0.01638	.	1.601850	0.04009	N	0.297884	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.20780	0.048	B	0.16289	0.015	T	0.43829	-0.9367	10	0.62326	D	0.03	0.708	2.1092	0.03698	0.3896:0.3271:0.1722:0.1111	.	212	Q5T749	KPRP_HUMAN	S	212	ENSP00000357762:P212S	ENSP00000357762:P212S	P	+	1	0	KPRP	150999322	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.060000	0.11712	-0.791000	0.04486	-0.211000	0.12701	CCT		PASS	0.567	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		13	115	13	115	---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155006051	155006051	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:155006051G>A	ENST00000368424.3	-	1	185	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Silent_p.L43L|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	43						integral component of membrane (GO:0016021)		p.L43L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTAGCTCCAGAAGCCCGTAG	0.632																																						uc001fgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(127-129)CTG>TTG		DC-STAMP domain containing 2							67.0	67.0	67.0					1																	155006051		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155006051G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.127C>T	1.37:g.155006051G>A						DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	p.L43L	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	207	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		43			Helical; (Potential).		Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.127C>T	CCDS1082.2																																																																																				PASS	0.632	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		8	44	8	44	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158614993	158614993	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:158614993C>A	ENST00000368147.4	-	29	4359	c.4179G>T	c.(4177-4179)caG>caT	p.Q1393H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1393					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1393H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTCCAGGCACTGGTCTAGGA	0.433																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4177-4179)CAG>CAT		spectrin, alpha, erythrocytic 1							174.0	158.0	163.0					1																	158614993		1918	4128	6046	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614993C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4179G>T	1.37:g.158614993C>A	ENSP00000357129:p.Gln1393His						p.Q1393H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4378	-	all_hematologic(112;0.0378)		1393			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4179G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562193	0.45590	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	5.03	-4.31	0.03698	.	0.000000	0.30723	N	0.009006	T	0.47135	0.1429	M	0.86651	2.83	0.42107	D	0.991361	D	0.56521	0.976	P	0.62435	0.902	T	0.65434	-0.6169	10	0.59425	D	0.04	.	15.9465	0.79799	0.0:0.7242:0.0:0.2758	.	1393	P02549	SPTA1_HUMAN	H	1393	ENSP00000357130:Q1393H;ENSP00000357129:Q1393H	ENSP00000357129:Q1393H	Q	-	3	2	SPTA1	156881617	0.999000	0.42202	0.910000	0.35882	0.484000	0.33280	0.598000	0.24074	-0.881000	0.03992	-0.806000	0.03193	CAG		PASS	0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		24	91	24	91	---	---	---	---
TAGLN2	8407	broad.mit.edu	37	1	159889626	159889626	+	Splice_Site	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:159889626C>A	ENST00000368097.4	-	3	491		c.e3-1		TAGLN2_ENST00000478033.1_Splice_Site|TAGLN2_ENST00000320307.4_Splice_Site|TAGLN2_ENST00000368096.1_Splice_Site	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2						epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)		p.?(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACATAGCACCTGGATGAGGA	0.552																																						uc001fum.1																			1	Unknown(1)		lung(1)		0						c.e2-1		transgelin 2							143.0	131.0	135.0					1																	159889626		2203	4300	6503	SO:0001630	splice_region_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889626C>A	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.181-1G>T	1.37:g.159889626C>A						CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Splice_Site_p.V61_splice|TAGLN2_uc001fuo.1_Splice_Site_p.V61_splice|TAGLN2_uc010piy.1_3'UTR	p.V61_splice	NM_003564	NP_003555	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	231	-	all_hematologic(112;0.0597)							E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Splice_Site	SNP	ENST00000368097.4	37	c.181_splice	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751068	0.69533	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3498	0.83199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAGLN2	158156250	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.393000	0.79851	2.525000	0.85131	0.655000	0.94253	.		PASS	0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564	Intron	6	102	6	102	---	---	---	---
CD244	51744	broad.mit.edu	37	1	160801188	160801188	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:160801188G>C	ENST00000368033.3	-	9	1144	c.1062C>G	c.(1060-1062)aaC>aaG	p.N354K	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.N349K|CD244_ENST00000322302.7_Missense_Mutation_p.N257K			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	354					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N354K(1)|p.N349K(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATCGAGCAGGGTTCTGGGCTT	0.463																																						uc009wtq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1060-1062)AAC>AAG		CD244 natural killer cell receptor 2B4							137.0	133.0	134.0					1																	160801188		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160801188G>C	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.1062C>G	1.37:g.160801188G>C	ENSP00000357012:p.Asn354Lys					CD244_uc001fxa.2_Missense_Mutation_p.N349K|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.N257K	p.N354K	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		9	1240	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		354			Cytoplasmic (Potential).		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.1062C>G	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227178	0.39399	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302	T;T;T	0.37752	3.05;2.44;1.18	3.83	1.97	0.26223	.	0.702860	0.13221	N	0.404349	T	0.25419	0.0618	L	0.34521	1.04	0.09310	N	1	D;P;P	0.63046	0.992;0.911;0.946	P;B;P	0.62740	0.906;0.433;0.637	T	0.04065	-1.0980	10	0.72032	D	0.01	-24.2556	5.9821	0.19413	0.2269:0.0:0.7731:0.0	.	257;354;349	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	K	349;354;257	ENSP00000357013:N349K;ENSP00000357012:N354K;ENSP00000313619:N257K	ENSP00000313619:N257K	N	-	3	2	CD244	159067812	0.993000	0.37304	0.069000	0.20011	0.026000	0.11368	1.521000	0.35910	0.601000	0.29879	0.563000	0.77884	AAC		PASS	0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		49	87	49	87	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161132464	161132464	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:161132464A>T	ENST00000289865.8	+	5	1062	c.841A>T	c.(841-843)Act>Tct	p.T281S	USP21_ENST00000368001.1_Missense_Mutation_p.T281S|USP21_ENST00000368002.3_Missense_Mutation_p.T281S	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	281	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T281S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGTGAATCCTACTCGATTCCG	0.532																																						uc010pke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(841-843)ACT>TCT		ubiquitin-specific protease 21							55.0	52.0	53.0					1																	161132464		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161132464A>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.841A>T	1.37:g.161132464A>T	ENSP00000289865:p.Thr281Ser					USP21_uc010pkc.1_Missense_Mutation_p.T281S|USP21_uc010pkd.1_Missense_Mutation_p.T281S|USP21_uc010pkf.1_Missense_Mutation_p.T281S	p.T281S	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	1218	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		281					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.841A>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.462374	0.26248	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.30981	1.51;1.51;1.51	5.05	5.05	0.67936	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.273813	0.34932	N	0.003576	T	0.02888	0.0086	N	0.02225	-0.63	0.26161	N	0.980001	B	0.11235	0.004	B	0.12837	0.008	T	0.40346	-0.9568	10	0.02654	T	1	.	8.5526	0.33460	0.9134:0.0:0.0866:0.0	.	281	Q9UK80	UBP21_HUMAN	S	281	ENSP00000356981:T281S;ENSP00000289865:T281S;ENSP00000356980:T281S	ENSP00000289865:T281S	T	+	1	0	USP21	159399088	0.915000	0.31059	1.000000	0.80357	0.997000	0.91878	1.845000	0.39279	2.116000	0.64780	0.454000	0.30748	ACT		PASS	0.532	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			9	24	9	24	---	---	---	---
ALDH9A1	223	broad.mit.edu	37	1	165667753	165667753	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:165667753G>A	ENST00000354775.4	-	1	347	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	ALDH9A1_ENST00000538148.1_5'Flank|RP11-466F5.6_ENST00000400982.2_RNA|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	0					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.R15C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CGAAGACTGCGAAGAAGCGGG	0.731																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)CGC>TGC		aldehyde dehydrogenase 9A1	NADH(DB00157)						13.0	18.0	17.0					1																	165667753		2187	4256	6443	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165667753G>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.43C>T	1.37:g.165667753G>A	ENSP00000346827:p.Arg15Cys					uc001gdi.2_5'Flank|ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Missense_Mutation_p.R15C|ALDH9A1_uc010pla.1_5'UTR	p.R15C	NM_000696	NP_000687	P49189	AL9A1_HUMAN			1	148	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		Error:Variant_position_missing_in_P49189_after_alignment					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.43C>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259182	0.39995	.	.	ENSG00000143149	ENST00000354775	T	0.76709	-1.04	4.69	2.78	0.32641	.	1.683040	0.03587	N	0.231135	T	0.37785	0.1016	N	0.08118	0	0.31391	N	0.6778489999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13415	-1.0510	9	0.36615	T	0.2	.	5.9191	0.19072	0.1002:0.0:0.7117:0.1881	.	15;15	B4DX14;B9EKV4	.;.	C	15	ENSP00000346827:R15C	ENSP00000346827:R15C	R	-	1	0	ALDH9A1	163934377	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.805000	0.27112	0.385000	0.24970	-0.140000	0.14226	CGC		PASS	0.731	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			4	4	4	4	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171227315	171227315	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:171227315G>A	ENST00000354841.4	+	1	220	c.89G>A	c.(88-90)tGc>tAc	p.C30Y	FMO1_ENST00000402921.2_Missense_Mutation_p.C30Y|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.C30Y	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	30					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.C30Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAGCCCACCTGCTTTGAGAGG	0.557																																						uc009wvz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(88-90)TGC>TAC		flavin containing monooxygenase 1							105.0	102.0	103.0					1																	171227315		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171227315G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.89G>A	1.37:g.171227315G>A	ENSP00000346901:p.Cys30Tyr					FMO1_uc010pme.1_Missense_Mutation_p.C30Y|FMO1_uc001ghl.2_Missense_Mutation_p.C30Y|FMO1_uc001ghm.2_Missense_Mutation_p.C30Y|FMO1_uc001ghn.2_Missense_Mutation_p.C30Y	p.C30Y	NM_002021	NP_002012	Q01740	FMO1_HUMAN			2	225	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		30					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.89G>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531841	0.85706	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.64991	-0.13;-0.13;0.35;-0.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	H	0.96691	3.865	0.50039	D	0.99984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89856	0.4013	10	0.87932	D	0	-0.9428	18.3074	0.90187	0.0:0.0:1.0:0.0	.	30;30;30	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	Y	30	ENSP00000356724:C30Y;ENSP00000406982:C30Y;ENSP00000385543:C30Y;ENSP00000346901:C30Y	ENSP00000346901:C30Y	C	+	2	0	FMO1	169493939	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.518000	0.98022	2.609000	0.88269	0.655000	0.94253	TGC		PASS	0.557	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		33	73	33	73	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	176153775	176153775	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:176153775C>T	ENST00000367669.3	-	2	975	c.461G>A	c.(460-462)aGc>aAc	p.S154N	RFWD2_ENST00000308769.8_Missense_Mutation_p.S154N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	154					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.S154N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTACCAAAAGCTGTGGCCACA	0.284																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)AGC>AAC		ring finger and WD repeat domain 2 isoform a							107.0	120.0	115.0					1																	176153775		2202	4295	6497	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176153775C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.461G>A	1.37:g.176153775C>T	ENSP00000356641:p.Ser154Asn					RFWD2_uc001gkv.1_Missense_Mutation_p.S154N|RFWD2_uc001gkw.1_5'UTR|RFWD2_uc001gkt.1_Missense_Mutation_p.S13N	p.S154N	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			2	717	-			154			RING-type.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.461G>A	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371130	0.82573	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;D;T;D	0.85088	2.25;-1.94;2.25;-1.94	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	L	0.34521	1.04	0.80722	D	1	D;D;P	0.59357	0.969;0.985;0.705	P;D;P	0.69824	0.785;0.966;0.846	D	0.89420	0.3709	10	0.62326	D	0.03	-12.8788	18.2882	0.90121	0.0:1.0:0.0:0.0	.	154;154;154	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	N	154;9;154;13;154	ENSP00000356641:S154N;ENSP00000356638:S9N;ENSP00000310943:S154N;ENSP00000433810:S13N	ENSP00000310943:S154N	S	-	2	0	RFWD2	174420398	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.804000	0.75186	2.683000	0.91414	0.563000	0.77884	AGC		PASS	0.284	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		11	173	11	173	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176918373	176918373	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:176918373T>A	ENST00000367654.3	-	12	2237	c.2026A>T	c.(2026-2028)Atg>Ttg	p.M676L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M668L|ASTN1_ENST00000367657.3_Missense_Mutation_p.M668L|ASTN1_ENST00000361833.2_Missense_Mutation_p.M668L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	676	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.M668L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGGGCGCCATCTGCTGGAGG	0.617											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2002-2004)ATG>TTG		astrotactin isoform 1							73.0	71.0	72.0					1																	176918373		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176918373T>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2026A>T	1.37:g.176918373T>A	ENSP00000356626:p.Met676Leu		OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	ASTN1_uc001glb.1_Missense_Mutation_p.M668L|ASTN1_uc001gld.1_Missense_Mutation_p.M668L|ASTN1_uc009wwx.1_Missense_Mutation_p.M668L	p.M668L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			12	2214	-			676			EGF-like 3.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2002A>T		.	.	.	.	.	.	.	.	.	.	T	10.15	1.270032	0.23221	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.3	2.97	0.34412	.	0.268407	0.46145	D	0.000307	D	0.86058	0.5842	N	0.02539	-0.55	0.39079	D	0.960863	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.75886	-0.3159	10	0.15952	T	0.53	-20.4559	7.9695	0.30119	0.0:0.2292:0.0:0.7708	.	676;668;668	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	668;668;676;668;668	ENSP00000356629:M668L;ENSP00000354536:M668L;ENSP00000356626:M676L;ENSP00000395041:M668L	ENSP00000354536:M668L	M	-	1	0	ASTN1	175184996	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.040000	0.57333	0.333000	0.23563	-0.290000	0.09829	ATG		PASS	0.617	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	43	7	43	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176934344	176934344	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:176934344C>A	ENST00000367654.3	-	9	1788	c.1577G>T	c.(1576-1578)gGc>gTc	p.G526V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G518V|ASTN1_ENST00000367657.3_Missense_Mutation_p.G518V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G518V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	526					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G518V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGTCAAAGCCTCGCTGAAA	0.418																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1552-1554)GGC>GTC		astrotactin isoform 1							129.0	132.0	131.0					1																	176934344		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176934344C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1577G>T	1.37:g.176934344C>A	ENSP00000356626:p.Gly526Val					ASTN1_uc001glb.1_Missense_Mutation_p.G518V|ASTN1_uc001gld.1_Missense_Mutation_p.G518V|ASTN1_uc009wwx.1_Missense_Mutation_p.G518V	p.G518V	NM_004319	NP_004310	O14525	ASTN1_HUMAN			9	1765	-			526					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1553G>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427156	0.83667	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;D;T	0.86865	1.38;1.78;-2.18;1.39	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.91724	0.5391	10	0.87932	D	0	-23.0235	18.2806	0.90097	0.0:1.0:0.0:0.0	.	526;518;518	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	518;518;526;518;518	ENSP00000356629:G518V;ENSP00000354536:G518V;ENSP00000356626:G526V;ENSP00000395041:G518V	ENSP00000354536:G518V	G	-	2	0	ASTN1	175200967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.025000	0.76449	2.469000	0.83416	0.555000	0.69702	GGC		PASS	0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		64	61	64	61	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181765947	181765947	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:181765947C>A	ENST00000367573.2	+	47	6352	c.6352C>A	c.(6352-6354)Caa>Aaa	p.Q2118K	CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1682K|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q2056K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q2099K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q2075K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q2007K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q2069K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2118					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.Q2075K(1)|p.Q2118K(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGCGCCGTCAATCCAGGTC	0.592																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6223-6225)CAA>AAA		calcium channel, voltage-dependent, R type,							24.0	26.0	26.0					1																	181765947		2028	4190	6218	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181765947C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6352C>A	1.37:g.181765947C>A	ENSP00000356545:p.Gln2118Lys					CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1963K|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1344K	p.Q2075K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			46	6388	+			2118			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6223C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	8.599	0.886297	0.17540	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.84;-3.84;-3.84;-3.84;-3.91;-3.84;-3.84	5.91	3.99	0.46301	.	0.700185	0.14975	N	0.287565	D	0.90960	0.7158	L	0.34521	1.04	0.21220	N	0.99975	B;B	0.17465	0.009;0.022	B;B	0.18871	0.008;0.023	T	0.71404	-0.4603	10	0.02654	T	1	.	16.2411	0.82409	0.0:0.7489:0.2511:0.0	.	2056;2075	Q15878-2;Q15878-3	.;.	K	2075;2056;2069;2007;1682;2099;2118	ENSP00000356542:Q2075K;ENSP00000434814:Q2056K;ENSP00000350183:Q2069K;ENSP00000351101:Q2007K;ENSP00000356539:Q1682K;ENSP00000353222:Q2099K;ENSP00000356545:Q2118K	ENSP00000350183:Q2069K	Q	+	1	0	CACNA1E	180032570	0.569000	0.26643	0.294000	0.24946	0.936000	0.57629	2.441000	0.44864	0.792000	0.33850	0.655000	0.94253	CAA		PASS	0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	11	4	11	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183617486	183617486	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:183617486G>A	ENST00000308641.4	-	2	702	c.431C>T	c.(430-432)aCg>aTg	p.T144M	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	144					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.T144M(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCCTGGATACGTAATCAGGAA	0.428																																						uc001gqn.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(430-432)ACG>ATG		apolipoprotein B							129.0	133.0	132.0					1																	183617486		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617486G>A	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.431C>T	1.37:g.183617486G>A	ENSP00000310622:p.Thr144Met					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.T144M	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	703	-			144					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.431C>T	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	1.474	-0.559069	0.03967	.	.	ENSG00000173627	ENST00000308641	T	0.65178	-0.14	5.02	-10.0	0.00425	APOBEC-like, N-terminal (1);	1.115830	0.06921	N	0.809404	T	0.34193	0.0889	N	0.12182	0.205	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.26087	-1.0113	10	0.45353	T	0.12	-6.0617	6.2176	0.20663	0.1145:0.0822:0.5568:0.2464	.	144	Q8WW27	ABEC4_HUMAN	M	144	ENSP00000310622:T144M	ENSP00000310622:T144M	T	-	2	0	APOBEC4	181884109	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.445000	0.01011	-1.576000	0.01652	-0.345000	0.07892	ACG		PASS	0.428	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		15	105	15	105	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186291483	186291483	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:186291483G>T	ENST00000367478.4	-	45	6724	c.6428C>A	c.(6427-6429)cCa>cAa	p.P2143Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2143					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.P2130Q(1)|p.P2143Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AGTACGATGTGGCACCACAAG	0.338			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(6427-6429)CCA>CAA		nuclear pore complex-associated protein TPR							109.0	102.0	104.0					1																	186291483		1867	4107	5974	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186291483G>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6428C>A	1.37:g.186291483G>T	ENSP00000356448:p.Pro2143Gln						p.P2143Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	45	6725	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2143					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6428C>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005665	0.93287	.	.	ENSG00000047410	ENST00000367478	D	0.89681	-2.55	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94672	0.7857	10	0.87932	D	0	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	2143	P12270	TPR_HUMAN	Q	2143	ENSP00000356448:P2143Q	ENSP00000356448:P2143Q	P	-	2	0	TPR	184558106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.653000	0.90120	0.650000	0.86243	CCA		PASS	0.338	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		5	49	5	49	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202568477	202568477	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:202568477G>C	ENST00000367267.1	-	8	1114	c.922C>G	c.(922-924)Ccg>Gcg	p.P308A	SYT2_ENST00000367268.4_Missense_Mutation_p.P308A	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	308	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|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.P308A(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)	TTCACGTACGGGTCTGCGGAG	0.557																																						uc001gye.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(922-924)CCG>GCG		synaptotagmin II	Botulinum Toxin Type B(DB00042)						209.0	200.0	203.0					1																	202568477		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202568477G>C	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.922C>G	1.37:g.202568477G>C	ENSP00000356236:p.Pro308Ala					SYT2_uc010pqb.1_Missense_Mutation_p.P308A|SYT2_uc009xaf.2_Missense_Mutation_p.P138A	p.P308A	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		8	1115	-			308			Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.922C>G	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341212	0.81911	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.76448	-1.02;-1.02	5.02	5.02	0.67125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.054583	0.85682	D	0.000000	D	0.89476	0.6726	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.90927	0.4787	10	0.56958	D	0.05	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	308	Q8N9I0	SYT2_HUMAN	A	308	ENSP00000356237:P308A;ENSP00000356236:P308A	ENSP00000356236:P308A	P	-	1	0	SYT2	200835100	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.686000	0.98664	2.314000	0.78098	0.563000	0.77884	CCG		PASS	0.557	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		25	61	25	61	---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206230826	206230826	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:206230826T>A	ENST00000367126.4	+	2	1424	c.959T>A	c.(958-960)tTc>tAc	p.F320Y		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	320					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.F320Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	AATGTGGCTTTCACCATCTCT	0.557																																						uc001hds.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(958-960)TTC>TAC		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						61.0	53.0	56.0					1																	206230826		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206230826T>A	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.959T>A	1.37:g.206230826T>A	ENSP00000356094:p.Phe320Tyr						p.F320Y	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		2	1117	+			320			Extracellular (Potential).		B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.959T>A	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195566	0.78902	.	.	ENSG00000198049	ENST00000367126	T	0.71817	-0.6	5.7	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.366329	0.29266	N	0.012657	T	0.76535	0.4001	L	0.56396	1.775	0.36147	D	0.847221	P	0.36110	0.537	P	0.53313	0.723	T	0.75997	-0.3120	10	0.22706	T	0.39	-28.2753	10.9251	0.47187	0.0:0.075:0.0:0.925	.	320	P47901	V1BR_HUMAN	Y	320	ENSP00000356094:F320Y	ENSP00000356094:F320Y	F	+	2	0	AVPR1B	204397449	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.044000	0.57361	0.985000	0.38656	-0.400000	0.06385	TTC		PASS	0.557	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		4	9	4	9	---	---	---	---
IL10	3586	broad.mit.edu	37	1	206944738	206944738	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:206944738T>C	ENST00000423557.1	-	2	246	c.188A>G	c.(187-189)aAc>aGc	p.N63S	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	63					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.N63S(1)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TAACAACAAGTtgtccagctg	0.483																																						uc001hen.1																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)AAC>AGC		interleukin 10 precursor							52.0	46.0	48.0					1																	206944738		2203	4299	6502	SO:0001583	missense	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944738T>C	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.188A>G	1.37:g.206944738T>C	ENSP00000412237:p.Asn63Ser						p.N63S	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		2	247	-	Breast(84;0.183)		63						Missense_Mutation	SNP	ENST00000423557.1	37	c.188A>G	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.693488	0.00731	.	.	ENSG00000136634	ENST00000423557	T	0.63580	-0.05	5.2	-10.4	0.00318	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.050170	0.07276	N	0.870006	T	0.35038	0.0918	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48375	-0.9041	10	0.07325	T	0.83	-6.5039	16.7089	0.85380	0.0:0.7224:0.1243:0.1533	.	63	P22301	IL10_HUMAN	S	63	ENSP00000412237:N63S	ENSP00000412237:N63S	N	-	2	0	IL10	205011361	0.023000	0.18921	0.002000	0.10522	0.118000	0.20060	-0.571000	0.05889	-2.249000	0.00702	-1.145000	0.01858	AAC		PASS	0.483	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		4	15	4	15	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208270171	208270171	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:208270171C>A	ENST00000367033.3	-	7	2546	c.1789G>T	c.(1789-1791)Ggg>Tgg	p.G597W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	597					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.G597W(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)		GTCAGGTTCCCAAAGGCACAG	0.567																																						uc001hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1789-1791)GGG>TGG		plexin A2 precursor							73.0	59.0	64.0					1																	208270171		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208270171C>A	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.1789G>T	1.37:g.208270171C>A	ENSP00000356000:p.Gly597Trp						p.G597W	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	7	2547	-			597			Extracellular (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1789G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595273	0.86953	.	.	ENSG00000076356	ENST00000367033	T	0.01106	5.33	4.92	4.92	0.64577	.	.	.	.	.	T	0.07593	0.0191	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.01829	-1.1265	9	0.72032	D	0.01	.	18.3153	0.90218	0.0:1.0:0.0:0.0	.	597	O75051	PLXA2_HUMAN	W	597	ENSP00000356000:G597W	ENSP00000356000:G597W	G	-	1	0	PLXNA2	206336794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.018000	0.76406	2.563000	0.86464	0.655000	0.94253	GGG		PASS	0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		13	22	13	22	---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221879746	221879746	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:221879746C>G	ENST00000366899.3	-	3	1112	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	292					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E292Q(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCGGCACTCTTGGAGCTGG	0.567																																						uc001hmy.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(874-876)GAG>CAG		dual specificity phosphatase 10 isoform a							47.0	57.0	54.0					1																	221879746		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879746C>G	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.874G>C	1.37:g.221879746C>G	ENSP00000355866:p.Glu292Gln					DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	p.E292Q	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1056	-			292					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.874G>C	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791806	0.50102	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.02579	4.24	5.44	5.44	0.79542	.	0.056975	0.64402	D	0.000002	T	0.03220	0.0094	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57435	-0.7812	10	0.21540	T	0.41	.	19.622	0.95660	0.0:1.0:0.0:0.0	.	292	Q9Y6W6	DUS10_HUMAN	Q	292;237	ENSP00000355866:E292Q	ENSP00000355866:E292Q	E	-	1	0	DUSP10	219946369	0.990000	0.36364	0.988000	0.46212	0.995000	0.86356	4.616000	0.61197	2.702000	0.92279	0.591000	0.81541	GAG		PASS	0.567	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		21	33	21	33	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223568431	223568431	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:223568431G>A	ENST00000366875.3	+	1	1717	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		538								p.L538L(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCAACCACCTGAGGGAGAAAA	0.542																																						uc001hoa.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1612-1614)CTG>CTA		hypothetical protein LOC164127							92.0	99.0	96.0					1																	223568431		2203	4300	6503	SO:0001819	synonymous_variant	164127							g.chr1:223568431G>A																												ENST00000366875.3:c.1614G>A	1.37:g.223568431G>A							p.L538L	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1717	+			538			Potential.		Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.1614G>A	CCDS1537.1																																																																																				PASS	0.542	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			22	48	22	48	---	---	---	---
CAPN2	824	broad.mit.edu	37	1	223949944	223949944	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:223949944G>C	ENST00000295006.5	+	14	1932	c.1623G>C	c.(1621-1623)ttG>ttC	p.L541F	CAPN2_ENST00000433674.2_Missense_Mutation_p.L463F|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	541	Domain IV.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.L541F(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGCCCAGTTGGCAGGAGAGG	0.483																																						uc001hob.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|skin(1)	5						c.(1621-1623)TTG>TTC		calpain 2 isoform 1							181.0	132.0	149.0					1																	223949944		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223949944G>C	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1623G>C	1.37:g.223949944G>C	ENSP00000295006:p.Leu541Phe					CAPN2_uc010puy.1_Missense_Mutation_p.L463F|CAPN2_uc001hoc.2_Missense_Mutation_p.L122F	p.L541F	NM_001748	NP_001739	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	14	1847	+			541			Domain IV.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1623G>C	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335447	0.60853	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	T;T	0.28255	1.62;1.62	5.63	4.7	0.59300	EF-hand-like domain (1);	0.142691	0.48767	D	0.000165	T	0.49864	0.1582	L	0.57536	1.79	0.80722	D	1	B;D;D	0.65815	0.117;0.995;0.992	B;D;D	0.65140	0.021;0.925;0.932	T	0.50939	-0.8768	10	0.54805	T	0.06	.	15.1242	0.72469	0.0:0.1421:0.8579:0.0	.	463;124;541	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	F	463;541;570	ENSP00000413158:L463F;ENSP00000295006:L541F	ENSP00000295006:L541F	L	+	3	2	CAPN2	222016567	0.998000	0.40836	0.999000	0.59377	0.769000	0.43574	0.392000	0.20801	1.342000	0.45619	0.655000	0.94253	TTG		PASS	0.483	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		10	25	10	25	---	---	---	---
GNG4	2786	broad.mit.edu	37	1	235747056	235747056	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:235747056C>A	ENST00000366598.4	-	2	298	c.83G>T	c.(82-84)tGt>tTt	p.C28F	GNG4_ENST00000450593.1_Missense_Mutation_p.C28F|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000391854.2_Missense_Mutation_p.C28F|GNG4_ENST00000366597.1_Missense_Mutation_p.C28F			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	28					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.C28F(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CCTGTCCATACAGGCTTCCAT	0.522																																						uc001hxe.3																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)TGT>TTT		guanine nucleotide binding protein (G protein),							188.0	171.0	177.0					1																	235747056		2203	4300	6503	SO:0001583	missense	2786				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:235747056C>A	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.83G>T	1.37:g.235747056C>A	ENSP00000355557:p.Cys28Phe					GNG4_uc009xfz.2_Missense_Mutation_p.C28F|GNG4_uc001hxh.3_Missense_Mutation_p.C28F	p.C28F	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000882)		3	537	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	28						Missense_Mutation	SNP	ENST00000366598.4	37	c.83G>T	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655152	0.47467	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.52	5.52	0.82312	G-protein gamma domain (5);	0.064322	0.64402	D	0.000006	T	0.26629	0.0651	.	.	.	0.44834	D	0.997845	B	0.18741	0.03	B	0.21917	0.037	T	0.05500	-1.0881	9	0.59425	D	0.04	-14.6428	10.4471	0.44501	0.0:0.911:0.0:0.089	.	28	P50150	GBG4_HUMAN	F	28	ENSP00000398629:C28F;ENSP00000375727:C28F;ENSP00000355557:C28F;ENSP00000355556:C28F	ENSP00000355556:C28F	C	-	2	0	GNG4	233813679	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.800000	0.55537	2.580000	0.87095	0.655000	0.94253	TGT		PASS	0.522	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1	NM_004485		9	46	9	46	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237732496	237732496	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:237732496G>T	ENST00000366574.2	+	29	3792	c.3475G>T	c.(3475-3477)Ggc>Tgc	p.G1159C	RYR2_ENST00000542537.1_Missense_Mutation_p.G1143C|RYR2_ENST00000360064.6_Missense_Mutation_p.G1157C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1159	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1157C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGCAAGCAGGCGATGTCGT	0.493																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3475-3477)GGC>TGC		cardiac muscle ryanodine receptor							127.0	128.0	128.0					1																	237732496		2091	4226	6317	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237732496G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3475G>T	1.37:g.237732496G>T	ENSP00000355533:p.Gly1159Cys						p.G1159C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		29	3595	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1159			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3475G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120958	0.94385	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.66099	-0.19;-0.19;-0.19	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000005	D	0.87002	0.6069	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89602	0.3835	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1159	Q92736	RYR2_HUMAN	C	1159;1157;1143	ENSP00000355533:G1159C;ENSP00000353174:G1157C;ENSP00000443798:G1143C	ENSP00000353174:G1157C	G	+	1	0	RYR2	235799119	1.000000	0.71417	0.781000	0.31783	0.886000	0.51366	9.805000	0.99149	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	29	13	29	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240976973	240976974	+	Missense_Mutation	DNP	CA	CA	AG	rs534078799		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:240976973_240976974CA>AG	ENST00000407727.1	-	12	899_900	c.900_901TG>CT	c.(898-903)ccTGac>ccCTac	p.D301Y	RGS7_ENST00000331110.7_Missense_Mutation_p.D275Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D248Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D248Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D301Y|RGS7_ENST00000366565.1_Missense_Mutation_p.D301Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D301Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D301Y|RGS7_ENST00000446183.2_Missense_Mutation_p.D217Y			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	301	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D301Y(4)|p.P300P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTAGAAGGGTCAGGTGGCAAAA	0.426																																						uc001hyv.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(4)|skin(2)|kidney(1)	7						c.(901-903)GAC>TAC|c.(898-900)CCT>CCC		regulator of G-protein signaling 7																																				SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240976973C>A|g.chr1:240976974A>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.900_901delinsAG	1.37:g.240976973_240976974delinsAG	ENSP00000384428:p.Asp301Tyr					RGS7_uc010pyh.1_Missense_Mutation_p.D275Y|RGS7_uc010pyj.1_Missense_Mutation_p.D217Y|RGS7_uc001hyu.2_Missense_Mutation_p.D301Y|RGS7_uc009xgn.1_Missense_Mutation_p.D248Y|RGS7_uc001hyw.2_Missense_Mutation_p.D301Y|RGS7_uc001hyt.2_Missense_Mutation_p.D133Y|RGS7_uc010pyh.1_Silent_p.P274P|RGS7_uc010pyj.1_Silent_p.P216P|RGS7_uc001hyu.2_Silent_p.P300P|RGS7_uc009xgn.1_Silent_p.P247P|RGS7_uc001hyw.2_Silent_p.P300P|RGS7_uc001hyt.2_Silent_p.P132P	p.D301Y|p.P300P	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1231|1230	-		all_cancers(173;0.0131)	301|300			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation|Silent	SNP	ENST00000407727.1	37	c.901G>T|c.900T>C																																																																																					PASS	0.426	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	27|26	8	26	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242035469	242035469	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:242035469C>A	ENST00000366548.3	+	12	1996	c.1403C>A	c.(1402-1404)aCt>aAt	p.T468N	EXO1_ENST00000348581.5_Missense_Mutation_p.T468N|EXO1_ENST00000518483.1_Missense_Mutation_p.T468N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	468	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.T468N(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AATGGACCTACTAACAAAAAG	0.383								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1402-1404)ACT>AAT	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							82.0	82.0	82.0					1																	242035469		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242035469C>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1403C>A	1.37:g.242035469C>A	ENSP00000355506:p.Thr468Asn					EXO1_uc001hzi.2_Missense_Mutation_p.T468N|EXO1_uc001hzj.2_Missense_Mutation_p.T468N|EXO1_uc009xgq.2_Missense_Mutation_p.T467N	p.T468N	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	1943	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	468			Interaction with MLH1.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1403C>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	0.115	-1.133499	0.01756	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.33216	1.42;1.42;1.42	5.85	1.98	0.26296	.	1.139940	0.06337	N	0.707193	T	0.23886	0.0578	L	0.34521	1.04	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.31641	-0.9936	10	0.16896	T	0.51	-21.1506	9.9384	0.41565	0.0:0.6655:0.0:0.3345	.	467;468;468	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	468	ENSP00000355506:T468N;ENSP00000311873:T468N;ENSP00000430251:T468N	ENSP00000311873:T468N	T	+	2	0	EXO1	240102092	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.126000	0.15769	0.123000	0.18342	0.650000	0.86243	ACT		PASS	0.383	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		4	56	4	56	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242035547	242035547	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:242035547G>C	ENST00000366548.3	+	12	2074	c.1481G>C	c.(1480-1482)aGt>aCt	p.S494T	EXO1_ENST00000348581.5_Missense_Mutation_p.S494T|EXO1_ENST00000518483.1_Missense_Mutation_p.S494T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	494					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.S494T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AATGAAGAAAGTGGTGCAGTT	0.383								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1480-1482)AGT>ACT	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							119.0	121.0	120.0					1																	242035547		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242035547G>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1481G>C	1.37:g.242035547G>C	ENSP00000355506:p.Ser494Thr					EXO1_uc001hzi.2_Missense_Mutation_p.S494T|EXO1_uc001hzj.2_Missense_Mutation_p.S494T|EXO1_uc009xgq.2_Missense_Mutation_p.S493T	p.S494T	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	2021	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	494					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1481G>C	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520523	0.27211	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32272	1.46;1.46;1.46	5.94	4.0	0.46444	.	0.691549	0.15779	N	0.245011	T	0.23370	0.0565	L	0.48362	1.52	0.26921	N	0.966671	B;B;B	0.15473	0.008;0.013;0.008	B;B;B	0.15484	0.006;0.013;0.005	T	0.19877	-1.0292	10	0.15499	T	0.54	-2.3464	7.2805	0.26308	0.1657:0.1401:0.6942:0.0	.	493;494;494	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	494	ENSP00000355506:S494T;ENSP00000311873:S494T;ENSP00000430251:S494T	ENSP00000311873:S494T	S	+	2	0	EXO1	240102170	0.004000	0.15560	1.000000	0.80357	0.983000	0.72400	0.244000	0.18124	1.425000	0.47237	0.557000	0.71058	AGT		PASS	0.383	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		6	53	6	53	---	---	---	---
TFB2M	64216	broad.mit.edu	37	1	246704449	246704449	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:246704449C>T	ENST00000366514.4	-	8	1260	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	359					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.D359N(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ACTTTCTCATCCTCCTGTTTT	0.348																																						uc001ibn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)GAT>AAT		transcription factor B2, mitochondrial							128.0	110.0	116.0					1																	246704449		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246704449C>T	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1075G>A	1.37:g.246704449C>T	ENSP00000355471:p.Asp359Asn						p.D359N	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		8	1200	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		359					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.1075G>A	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828701	0.16749	.	.	ENSG00000162851	ENST00000366514	T	0.28895	1.59	5.23	-6.35	0.01975	.	1.214930	0.05554	N	0.568009	T	0.23014	0.0556	L	0.59436	1.845	0.09310	N	1	B	0.16166	0.016	B	0.19148	0.024	T	0.30001	-0.9993	10	0.17369	T	0.5	0.2662	5.1992	0.15254	0.1111:0.4999:0.2255:0.1636	.	359	Q9H5Q4	TFB2M_HUMAN	N	359	ENSP00000355471:D359N	ENSP00000355471:D359N	D	-	1	0	TFB2M	244771072	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.699000	0.05087	-0.690000	0.05142	-0.312000	0.09012	GAT		PASS	0.348	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		15	29	15	29	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004383	248004383	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:248004383C>G	ENST00000355784.2	-	1	871	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	272						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K272N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAAATGATCTTGTTGATTT	0.478																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(814-816)AAG>AAC		olfactory receptor, family 11, subfamily L,							110.0	104.0	106.0					1																	248004383		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004383C>G	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.816G>C	1.37:g.248004383C>G	ENSP00000348033:p.Lys272Asn						p.K272N	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	816	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		272			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.816G>C	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227784	0.39399	.	.	ENSG00000197591	ENST00000355784	T	0.00207	8.55	4.15	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32081	U	0.006616	T	0.00468	0.0015	M	0.77486	2.375	0.27384	N	0.955324	D	0.89917	1.0	D	0.91635	0.999	T	0.33548	-0.9864	10	0.87932	D	0	.	8.4388	0.32803	0.0:0.8178:0.0:0.1822	.	272	Q8NGX0	O11L1_HUMAN	N	272	ENSP00000348033:K272N	ENSP00000348033:K272N	K	-	3	2	OR11L1	246071006	0.000000	0.05858	0.853000	0.33588	0.577000	0.36160	-0.609000	0.05635	1.104000	0.41587	-0.300000	0.09419	AAG		PASS	0.478	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		21	35	21	35	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525278	248525278	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:248525278G>T	ENST00000366475.1	+	1	396	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q132H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GTGGGATGCAGATGTTCTTCT	0.522																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(394-396)CAG>CAT		olfactory receptor, family 2, subfamily T,							191.0	176.0	181.0					1																	248525278		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525278G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.396G>T	1.37:g.248525278G>T	ENSP00000355431:p.Gln132His						p.Q132H	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	396	+	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)		132			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.396G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006888	0.35415	.	.	ENSG00000196944	ENST00000366475	T	0.02121	4.44	3.48	-0.299	0.12808	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000451	T	0.14098	0.0341	M	0.93375	3.41	0.30234	N	0.795611	D	0.89917	1.0	D	0.91635	0.999	T	0.02053	-1.1222	10	0.87932	D	0	.	9.5374	0.39231	0.3077:0.0:0.6923:0.0	.	132	Q8NH00	OR2T4_HUMAN	H	132	ENSP00000355431:Q132H	ENSP00000355431:Q132H	Q	+	3	2	OR2T4	246591901	0.359000	0.24955	0.575000	0.28536	0.447000	0.32167	0.176000	0.16782	0.029000	0.15352	0.485000	0.47835	CAG		PASS	0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		43	55	43	55	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637397	248637397	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:248637397A>T	ENST00000359594.2	+	1	771	c.746A>T	c.(745-747)cAc>cTc	p.H249L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H249L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TGCTCCTCCCACATGATCATA	0.547																																						uc001iel.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(745-747)CAC>CTC		olfactory receptor, family 2, subfamily T,							213.0	187.0	196.0					1																	248637397		2203	4300	6503	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637397A>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.746A>T	1.37:g.248637397A>T	ENSP00000352604:p.His249Leu						p.H249L	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	746	+	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)		249			Helical; Name=6; (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.746A>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	17.60	3.430725	0.62844	.	.	ENSG00000196539	ENST00000359594	T	0.00307	8.17	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01287	0.0042	H	0.99475	4.585	0.29878	N	0.826308	D	0.89917	1.0	D	0.97110	1.0	T	0.08452	-1.0721	9	0.87932	D	0	.	8.2762	0.31874	1.0:0.0:0.0:0.0	.	249	Q8NH03	OR2T3_HUMAN	L	249	ENSP00000352604:H249L	ENSP00000352604:H249L	H	+	2	0	OR2T3	246704020	0.999000	0.42202	0.044000	0.18714	0.184000	0.23303	5.813000	0.69201	0.841000	0.35020	0.156000	0.16432	CAC		PASS	0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		36	121	36	121	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685501	248685501	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr1:248685501T>A	ENST00000343414.4	+	1	586	c.554T>A	c.(553-555)aTc>aAc	p.I185N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I185N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGTGCTCATCAAACTGGCC	0.502																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(553-555)ATC>AAC		olfactory receptor, family 2, subfamily G,							122.0	117.0	119.0					1																	248685501		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685501T>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.554T>A	1.37:g.248685501T>A	ENSP00000341291:p.Ile185Asn						p.I185N	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	554	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	185			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.554T>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	16.24	3.066885	0.55539	.	.	ENSG00000188558	ENST00000343414	T	0.00188	8.59	3.68	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	U	0.000414	T	0.00552	0.0018	M	0.90309	3.105	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.31138	-0.9954	10	0.87932	D	0	.	8.2192	0.31530	0.0:0.0:0.2031:0.7969	.	185	Q5TZ20	OR2G6_HUMAN	N	185	ENSP00000341291:I185N	ENSP00000341291:I185N	I	+	2	0	OR2G6	246752124	0.006000	0.16342	0.975000	0.42487	0.923000	0.55619	1.595000	0.36708	0.461000	0.27071	0.329000	0.21502	ATC		PASS	0.502	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	41	4	41	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232830	21232830	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:21232830T>C	ENST00000233242.1	-	26	7037	c.6910A>G	c.(6910-6912)Aca>Gca	p.T2304A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2304					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T2304A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGAAATTGTAGTTCCCAAT	0.338																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6910-6912)ACA>GCA		apolipoprotein B precursor	Atorvastatin(DB01076)						132.0	135.0	134.0					2																	21232830		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232830T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6910A>G	2.37:g.21232830T>C	ENSP00000233242:p.Thr2304Ala						p.T2304A	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2304					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6910A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	0.215	-1.033305	0.02029	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00662	5.93	5.65	-1.55	0.08558	.	0.539313	0.18406	N	0.142197	T	0.00552	0.0018	N	0.25060	0.705	0.18873	N	0.999989	B	0.06786	0.001	B	0.04013	0.001	T	0.46289	-0.9202	10	0.18276	T	0.48	.	6.6667	0.23044	0.2198:0.4906:0.0:0.2896	.	2304	P04114	APOB_HUMAN	A	2304	ENSP00000233242:T2304A	ENSP00000233242:T2304A	T	-	1	0	APOB	21086335	0.002000	0.14202	0.995000	0.50966	0.137000	0.21094	-0.029000	0.12329	-0.119000	0.11830	0.459000	0.35465	ACA		PASS	0.338	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			12	101	12	101	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25062839	25062839	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:25062839C>T	ENST00000260600.5	-	6	2109	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	420					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.V420M(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642																																						uc002rfs.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1258-1260)GTG>ATG		adenylate cyclase 3							104.0	101.0	102.0					2																	25062839		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25062839C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1258G>A	2.37:g.25062839C>T	ENSP00000260600:p.Val420Met					ADCY3_uc002rfr.3_Missense_Mutation_p.V31M|ADCY3_uc010ykm.1_Missense_Mutation_p.V420M	p.V420M	NM_004036	NP_004027	O60266	ADCY3_HUMAN			6	1457	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		420			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1258G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169446	0.94768	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	5.05	5.05	0.67936	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.96518	3.835	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97905	1.0305	10	0.87932	D	0	.	17.9882	0.89161	0.0:1.0:0.0:0.0	.	420;420;31	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	M	420;31;395;46;176;370	ENSP00000260600:V420M;ENSP00000384484:V31M;ENSP00000410120:V46M;ENSP00000399275:V176M;ENSP00000389799:V370M	ENSP00000260600:V420M	V	-	1	0	ADCY3	24916343	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.811000	0.86092	2.325000	0.78763	0.549000	0.68633	GTG		PASS	0.642	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			14	30	14	30	---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26502980	26502980	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:26502980C>G	ENST00000317799.5	+	10	1034	c.930C>G	c.(928-930)ttC>ttG	p.F310L	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.F187L|HADHB_ENST00000545822.1_Missense_Mutation_p.F288L|HADHB_ENST00000537713.1_Missense_Mutation_p.F295L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	310					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.F310L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTTCTTTCTTGGTAACTG	0.383																																						uc002rgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(928-930)TTC>TTG		mitochondrial trifunctional protein, beta							134.0	119.0	124.0					2																	26502980		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26502980C>G		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.930C>G	2.37:g.26502980C>G	ENSP00000325136:p.Phe310Leu					HADHB_uc010ykv.1_Missense_Mutation_p.F288L|HADHB_uc010ykw.1_Missense_Mutation_p.F295L|HADHB_uc002rha.2_Missense_Mutation_p.F187L|HADHB_uc010ykx.1_Missense_Mutation_p.F236L	p.F310L	NM_000183	NP_000174	P55084	ECHB_HUMAN			10	1181	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		310					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.930C>G	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172093	0.38315	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.92965	-2.2;-3.14;-2.2;-2.2	5.43	2.64	0.31445	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.94371	0.8190	M	0.79011	2.435	0.80722	D	1	B;B;D;B	0.63046	0.185;0.091;0.992;0.222	B;B;D;B	0.76071	0.139;0.139;0.987;0.139	D	0.91745	0.5407	10	0.16896	T	0.51	-12.0026	10.042	0.42164	0.0:0.7401:0.0:0.2599	.	295;288;187;310	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	310;187;295;288	ENSP00000325136:F310L;ENSP00000385411:F187L;ENSP00000444295:F295L;ENSP00000442665:F288L	ENSP00000325136:F310L	F	+	3	2	HADHB	26356484	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.142000	0.31540	0.782000	0.33613	0.650000	0.86243	TTC		PASS	0.383	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		58	38	58	38	---	---	---	---
AL133247.2	0	broad.mit.edu	37	2	31754473	31754473	+	RNA	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:31754473C>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							ATAGCCGATCCATTCAATGAT	0.473																																						uc002rnw.1																			0					0						c.(601-603)TGG>TAG		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						75.0	74.0	74.0					2																	31754473		1954	4145	6099			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754473C>T																													2.37:g.31754473C>T							p.W201*	NM_000348	NP_000339	P31213	S5A2_HUMAN			5	673	-	Acute lymphoblastic leukemia(172;0.155)		201						Nonsense_Mutation	SNP	ENST00000435713.1	37	c.602G>A																																																																																					PASS	0.473	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			51	28	51	28	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43547631	43547631	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:43547631G>C	ENST00000405006.4	-	31	4743	c.4392C>G	c.(4390-4392)ttC>ttG	p.F1464L	THADA_ENST00000415080.2_Missense_Mutation_p.F1145L|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.F1464L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1464								p.F1464L(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAGTCAATAGGAAGAGAATAT	0.368																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4390-4392)TTC>TTG		thyroid adenoma associated							134.0	129.0	131.0					2																	43547631		1870	4102	5972	SO:0001583	missense	63892						binding	g.chr2:43547631G>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4392C>G	2.37:g.43547631G>C	ENSP00000385995:p.Phe1464Leu					THADA_uc010far.2_Missense_Mutation_p.F659L|THADA_uc002rsx.3_Missense_Mutation_p.F1464L|THADA_uc002rsy.3_RNA	p.F1464L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			31	4744	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1464					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4392C>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.634230|1.634230	0.29068|0.29068	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.11063|.	3.01;2.81;3.01|.	5.37|5.37	4.48|4.48	0.54585|0.54585	.|.	0.720518|.	0.13561|.	N|.	0.378814|.	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.19112|0.19112	0.55|0.55	0.33588|0.33588	D|D	0.600754|0.600754	B;B|.	0.16802|.	0.019;0.001|.	B;B|.	0.17433|.	0.018;0.003|.	T|T	0.50541|0.50541	-0.8816|-0.8816	10|5	0.08599|.	T|.	0.76|.	-10.9525|-10.9525	12.6482|12.6482	0.56746|0.56746	0.0:0.3445:0.6554:0.0|0.0:0.3445:0.6554:0.0	.|.	1391;1464|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	L|C	1464;1391;1145;1464|704	ENSP00000386088:F1464L;ENSP00000416048:F1145L;ENSP00000385995:F1464L|.	ENSP00000349464:F1391L|.	F|S	-|-	3|2	2|0	THADA|THADA	43401135|43401135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.147000|1.147000	0.31602|0.31602	1.473000|1.473000	0.48159|0.48159	0.650000|0.650000	0.86243|0.86243	TTC|TCC		PASS	0.368	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		62	43	62	43	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64780367	64780367	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:64780367G>C	ENST00000422803.1	+	2	2073	c.1759G>C	c.(1759-1761)Gct>Cct	p.A587P	AFTPH_ENST00000238855.7_Missense_Mutation_p.A587P|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.A218P|AFTPH_ENST00000409933.1_Missense_Mutation_p.A587P|AFTPH_ENST00000238856.4_Missense_Mutation_p.A587P			Q6ULP2	AFTIN_HUMAN	aftiphilin	587					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.A587P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTCTTGGGCTGCTTTTGGAGA	0.438																																						uc002sdc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1759-1761)GCT>CCT		aftiphilin protein isoform a							79.0	77.0	78.0					2																	64780367		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780367G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1759G>C	2.37:g.64780367G>C	ENSP00000397726:p.Ala587Pro					AFTPH_uc002scz.2_Missense_Mutation_p.A587P|AFTPH_uc002sda.2_Missense_Mutation_p.A587P|AFTPH_uc002sdb.2_Missense_Mutation_p.A587P	p.A587P	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1791	+			587					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1759G>C		.	.	.	.	.	.	.	.	.	.	G	15.99	2.996467	0.54147	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.54866	1.53;1.54;1.54;1.54;0.55	6.16	4.37	0.52481	.	0.123452	0.52532	D	0.000068	T	0.65821	0.2728	L	0.57536	1.79	0.50313	D	0.999867	D;D;D;D	0.89917	0.996;0.996;0.999;1.0	D;D;D;D	0.87578	0.925;0.925;0.994;0.998	T	0.61347	-0.7081	10	0.21540	T	0.41	-5.9242	13.1048	0.59241	0.1294:0.0:0.8706:0.0	.	587;587;587;587	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	P	587;587;587;587;218	ENSP00000238856:A587P;ENSP00000397726:A587P;ENSP00000238855:A587P;ENSP00000387071:A587P;ENSP00000386913:A218P	ENSP00000238855:A587P	A	+	1	0	AFTPH	64633871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.644000	0.54381	0.930000	0.37217	0.650000	0.86243	GCT		PASS	0.438	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		28	20	28	20	---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73466796	73466796	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:73466796A>G	ENST00000258091.5	+	2	173	c.32A>G	c.(31-33)gAg>gGg	p.E11G	CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000539919.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	11					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.E11G(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CTATTGAAAGAGGGGACTGAT	0.473																																						uc002siz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GAG>GGG		chaperonin containing TCP1, subunit 7 isoform a							47.0	47.0	47.0					2																	73466796		1862	4095	5957	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73466796A>G	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.32A>G	2.37:g.73466796A>G	ENSP00000258091:p.Glu11Gly					CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.E11G|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	p.E11G	NM_006429	NP_006420	Q99832	TCPH_HUMAN			2	134	+			11					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.32A>G	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648257	0.87958	.	.	ENSG00000135624	ENST00000258091;ENST00000409081	T	0.60548	0.18	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	H	0.97214	3.96	0.80722	D	1	D;D	0.63880	0.991;0.993	P;D	0.64506	0.906;0.926	D	0.88926	0.3369	10	0.87932	D	0	-30.6987	14.3038	0.66373	1.0:0.0:0.0:0.0	.	11;11	B8ZZC9;Q99832	.;TCPH_HUMAN	G	11	ENSP00000258091:E11G	ENSP00000258091:E11G	E	+	2	0	CCT7	73320304	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.984000	0.93482	2.302000	0.77476	0.533000	0.62120	GAG		PASS	0.473	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			3	28	3	28	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79878772	79878772	+	Silent	SNP	A	A	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:79878772A>C	ENST00000402739.4	+	1	95	c.90A>C	c.(88-90)ccA>ccC	p.P30P	MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000409266.1_Silent_p.P30P|CTNNA2_ENST00000361291.4_Silent_p.P64P|CTNNA2_ENST00000466387.1_Silent_p.P30P|CTNNA2_ENST00000540488.1_Silent_p.P30P|CTNNA2_ENST00000496558.1_Silent_p.P30P|CTNNA2_ENST00000541047.1_Silent_p.P30P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	30					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.P30P(4)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTTGGAGCCACTTGTTACAC	0.413																																						uc010ysh.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(88-90)CCA>CCC		catenin, alpha 2 isoform 1							78.0	76.0	77.0					2																	79878772		1864	4103	5967	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79878772A>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.90A>C	2.37:g.79878772A>C						CTNNA2_uc010yse.1_Silent_p.P30P|CTNNA2_uc010ysf.1_Silent_p.P30P|CTNNA2_uc010ysg.1_Silent_p.P30P|hsa-mir-4264|MI0015877_5'Flank	p.P30P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			1	95	+			30					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.90A>C																																																																																					PASS	0.413	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		31	20	31	20	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102475492	102475492	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:102475492G>C	ENST00000347699.4	+	14	1430	c.1430G>C	c.(1429-1431)cGg>cCg	p.R477P	MAP4K4_ENST00000324219.4_Missense_Mutation_p.R477P|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R457P|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R477P|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R477P|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R477P|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R330P|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R330P	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	477					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R477Q(2)|p.R477P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGGAGCAGCGGCACTTGGAA	0.507																																						uc002tbg.2																			3	Substitution - Missense(3)		lung(3)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1429-1431)CGG>CCG		mitogen-activated protein kinase kinase kinase							99.0	104.0	102.0					2																	102475492		1979	4172	6151	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102475492G>C	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1430G>C	2.37:g.102475492G>C	ENSP00000314363:p.Arg477Pro					MAP4K4_uc002tbc.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbd.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbe.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbf.2_Missense_Mutation_p.R477P|MAP4K4_uc010yvy.1_Missense_Mutation_p.R477P|MAP4K4_uc002tbh.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbi.2_Missense_Mutation_p.R330P|MAP4K4_uc010yvz.1_Missense_Mutation_p.R457P|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.R373P	p.R477P	NM_145687	NP_663720	O95819	M4K4_HUMAN			14	1485	+			477					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.1430G>C	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928907	0.52759	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878;ENST00000418101	T;T;T;T;T;T;T;T;T;T	0.73789	2.22;0.59;0.78;0.59;0.78;0.59;0.59;2.22;-0.78;0.59	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	D	0.85570	0.5727	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.71674	0.996;0.996;0.996;0.996;0.998;0.996;0.996;0.998;0.998;0.998	D;D;D;D;D;D;D;D;D;D	0.78314	0.979;0.979;0.979;0.979;0.991;0.979;0.979;0.991;0.991;0.991	T	0.83196	-0.0081	10	0.38643	T	0.18	.	20.127	0.97984	0.0:0.0:1.0:0.0	.	457;477;457;330;477;477;477;477;477;477	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	P	477;477;477;330;477;330;477;439;457;66	ENSP00000392830:R477P;ENSP00000313644:R477P;ENSP00000281111:R477P;ENSP00000303600:R330P;ENSP00000389752:R477P;ENSP00000387370:R330P;ENSP00000314363:R477P;ENSP00000409720:R439P;ENSP00000343658:R457P;ENSP00000414766:R66P	ENSP00000303600:R330P	R	+	2	0	MAP4K4	101841924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.775000	0.95449	0.585000	0.79938	CGG		PASS	0.507	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		11	44	11	44	---	---	---	---
UXS1	80146	broad.mit.edu	37	2	106761715	106761715	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:106761715C>G	ENST00000409501.3	-	6	445	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	UXS1_ENST00000283148.7_Missense_Mutation_p.E135Q|UXS1_ENST00000540130.1_Missense_Mutation_p.E73Q|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	130					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.E130Q(1)|p.E135Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATCCAGTGCTCCACGTTTCTC	0.517																																						uc002tdm.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(388-390)GAG>CAG		UDP-glucuronate decarboxylase 1							105.0	105.0	105.0					2																	106761715		2022	4166	6188	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106761715C>G	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.388G>C	2.37:g.106761715C>G	ENSP00000387019:p.Glu130Gln					UXS1_uc002tdn.2_Missense_Mutation_p.E135Q|UXS1_uc002tdo.2_Missense_Mutation_p.E73Q|UXS1_uc010ywh.1_Intron	p.E130Q	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			6	486	-			130			NAD.|Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.388G>C	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925298	0.73213	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	L	0.31926	0.97	0.80722	D	1	B;B	0.30361	0.234;0.277	B;B	0.30316	0.07;0.114	D	0.86438	0.1765	10	0.26408	T	0.33	-10.8348	20.1381	0.98040	0.0:1.0:0.0:0.0	.	135;130	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	Q	135;73;130;73	ENSP00000283148:E135Q;ENSP00000438265:E73Q;ENSP00000387019:E130Q;ENSP00000399316:E73Q	ENSP00000283148:E135Q	E	-	1	0	UXS1	106128147	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GAG		PASS	0.517	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		16	28	16	28	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133539570	133539570	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:133539570C>A	ENST00000409261.1	-	14	5187	c.4814G>T	c.(4813-4815)aGa>aTa	p.R1605I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1605I|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1605								p.R1605I(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGGCTGTGTCTATTCCTTGG	0.443																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4813-4815)AGA>ATA		Nck-associated protein 5 isoform 1							270.0	236.0	247.0					2																	133539570		1922	4139	6061	SO:0001583	missense	344148						protein binding	g.chr2:133539570C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4814G>T	2.37:g.133539570C>A	ENSP00000387128:p.Arg1605Ile					NCKAP5_uc002ttq.2_Intron	p.R1605I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	5188	-			1605					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4814G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719682	0.30503	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10382	2.88;2.88	5.3	3.47	0.39725	.	0.342477	0.15168	U	0.276832	T	0.14614	0.0353	L	0.27053	0.805	0.47123	D	0.999321	D	0.57571	0.98	P	0.58331	0.837	T	0.05599	-1.0875	10	0.38643	T	0.18	.	7.882	0.29627	0.0:0.7415:0.0:0.2585	.	1605	O14513	NCKP5_HUMAN	I	1605	ENSP00000387128:R1605I;ENSP00000380603:R1605I	ENSP00000380603:R1605I	R	-	2	0	NCKAP5	133256040	0.871000	0.30034	0.717000	0.30585	0.402000	0.30811	1.195000	0.32186	0.784000	0.33661	0.585000	0.79938	AGA		PASS	0.443	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		14	76	14	76	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135185973	135185973	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:135185973G>C	ENST00000409645.1	+	15	2084	c.1832G>C	c.(1831-1833)gGg>gCg	p.G611A	MGAT5_ENST00000281923.2_Missense_Mutation_p.G611A			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	611					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.G611A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ACGTGCGAGGGGATGCTACAG	0.453																																						uc002ttv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1831-1833)GGG>GCG		N-acetylglucosaminyltransferase V							224.0	189.0	201.0					2																	135185973		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135185973G>C	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1832G>C	2.37:g.135185973G>C	ENSP00000386377:p.Gly611Ala						p.G611A	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	14	1977	+			611			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1832G>C	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895167	0.91962	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.82056	2.57	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83381	0.0012	9	0.54805	T	0.06	-19.0785	19.3915	0.94584	0.0:0.0:1.0:0.0	.	611	Q09328	MGT5A_HUMAN	A	611	.	ENSP00000281923:G611A	G	+	2	0	MGAT5	134902443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.477000	0.90424	2.876000	0.98609	0.644000	0.83932	GGG		PASS	0.453	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		8	37	8	37	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136555694	136555694	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:136555694C>A	ENST00000264162.2	-	13	4891	c.4881G>T	c.(4879-4881)tgG>tgT	p.W1627C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1627	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.W1627C(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GATGTGCAAACCAGCCTCCCA	0.567											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(4879-4881)TGG>TGT		lactase-phlorizin hydrolase preproprotein							95.0	87.0	89.0					2																	136555694		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136555694C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4881G>T	2.37:g.136555694C>A	ENSP00000264162:p.Trp1627Cys		OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626		p.W1627C	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	13	4892	-			1627			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.4881G>T	CCDS2178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.416603|3.416603	0.62511|0.62511	.|.	.|.	ENSG00000115850|ENSG00000115850	ENST00000455227|ENST00000264162	.|T	.|0.37411	.|1.2	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74329|0.74329	0.3702|0.3702	H|H	0.97051|0.97051	3.93|3.93	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.69654	.|0.965	T|T	0.83072|0.83072	-0.0142|-0.0142	6|10	0.59425|0.87932	D|D	0.04|0	-11.1587|-11.1587	19.976|19.976	0.97309|0.97309	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1627	.|P09848	.|LPH_HUMAN	F|C	992|1627	.|ENSP00000264162:W1627C	ENSP00000391231:V992F|ENSP00000264162:W1627C	V|W	-|-	1|3	0|0	LCT|LCT	136272164|136272164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.810000|7.810000	0.86072|0.86072	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GTT|TGG		PASS	0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		11	29	11	29	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137814061	137814061	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:137814061G>C	ENST00000409968.1	+	3	389	c.211G>C	c.(211-213)Gtt>Ctt	p.V71L	THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.V71L|THSD7B_ENST00000413152.2_Missense_Mutation_p.V40L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	71	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.V71L(1)|p.V40L(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)		GTGTTTTCATGTTGACGGGTG	0.512																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(118-120)GTT>CTT		thrombospondin, type I, domain containing 7B							77.0	83.0	81.0					2																	137814061		2018	4199	6217	SO:0001583	missense	80731							g.chr2:137814061G>C			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.211G>C	2.37:g.137814061G>C	ENSP00000387145:p.Val71Leu					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.V40L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	118	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.118G>C		.	.	.	.	.	.	.	.	.	.	G	11.91	1.779517	0.31502	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.59906	0.23;0.23;0.23	5.89	-0.287	0.12858	.	1.118710	0.07106	U	0.841341	T	0.37461	0.1004	L	0.27053	0.805	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.26408	T	0.33	.	1.7675	0.03005	0.3217:0.0884:0.3584:0.2315	.	40	C9JKN6	.	L	71;71;40	ENSP00000387145:V71L;ENSP00000272643:V71L;ENSP00000413841:V40L	ENSP00000272643:V71L	V	+	1	0	THSD7B	137530531	0.000000	0.05858	0.956000	0.39512	0.997000	0.91878	-0.142000	0.10311	-0.004000	0.14419	0.585000	0.79938	GTT		PASS	0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		12	21	12	21	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137852667	137852667	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:137852667G>T	ENST00000409968.1	+	4	1353	c.1175G>T	c.(1174-1176)gGa>gTa	p.G392V	THSD7B_ENST00000543459.1_Missense_Mutation_p.G251V|THSD7B_ENST00000272643.3_Missense_Mutation_p.G392V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G361V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	392	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.G361V(1)|p.G392V(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)		ATTGTTGAAGGAGAACTTCTG	0.448																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1081-1083)GGA>GTA		thrombospondin, type I, domain containing 7B							83.0	93.0	89.0					2																	137852667		1973	4159	6132	SO:0001583	missense	80731							g.chr2:137852667G>T			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.1175G>T	2.37:g.137852667G>T	ENSP00000387145:p.Gly392Val					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.G251V	p.G361V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	3	1082	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1082G>T		.	.	.	.	.	.	.	.	.	.	G	14.15	2.449156	0.43531	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.25749	2.4;2.27;1.88;1.78	5.37	3.58	0.41010	.	0.048755	0.85682	D	0.000000	T	0.45756	0.1358	M	0.73962	2.25	0.80722	D	1	D;P	0.55800	0.973;0.943	D;P	0.65874	0.939;0.796	T	0.29822	-0.9999	10	0.27082	T	0.32	.	11.6906	0.51514	0.1463:0.0:0.8537:0.0	.	392;361	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	392;392;361;251	ENSP00000387145:G392V;ENSP00000272643:G392V;ENSP00000413841:G361V;ENSP00000443370:G251V	ENSP00000272643:G392V	G	+	2	0	THSD7B	137569137	1.000000	0.71417	0.990000	0.47175	0.181000	0.23173	4.127000	0.57944	0.645000	0.30675	-0.157000	0.13467	GGA		PASS	0.448	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		15	38	15	38	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137917791	137917791	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:137917791C>A	ENST00000409968.1	+	6	1556	c.1378C>A	c.(1378-1380)Cct>Act	p.P460T	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P460T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P429T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	460	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.P460T(1)|p.P429T(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)		AGTCTCTAGACCTGTGGAAAA	0.488																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1285-1287)CCT>ACT		thrombospondin, type I, domain containing 7B							151.0	151.0	151.0					2																	137917791		1997	4156	6153	SO:0001583	missense	80731							g.chr2:137917791C>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.1378C>A	2.37:g.137917791C>A	ENSP00000387145:p.Pro460Thr					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.P319T	p.P429T	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	5	1285	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1285C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.122442	0.77436	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60040	0.22;0.22;0.22	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.71721	-0.4507	10	0.41790	T	0.15	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	460;429	Q9C0I4;C9JKN6	THS7B_HUMAN;.	T	460;460;429	ENSP00000387145:P460T;ENSP00000272643:P460T;ENSP00000413841:P429T	ENSP00000272643:P460T	P	+	1	0	THSD7B	137634261	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	6.042000	0.70996	2.831000	0.97527	0.650000	0.86243	CCT		PASS	0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		17	52	17	52	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165952979	165952979	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:165952979C>G	ENST00000360093.3	-	24	4782	c.4291G>C	c.(4291-4293)Gat>Cat	p.D1431H	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1431H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1382H|SCN3A_ENST00000540861.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1431					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1382H(1)|p.D1431H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATACTTACATCTCGTGAATCA	0.284																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4291-4293)GAT>CAT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						85.0	86.0	86.0					2																	165952979		2202	4290	6492	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952979C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4291G>C	2.37:g.165952979C>G	ENSP00000353206:p.Asp1431His					SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.D1382H|SCN3A_uc002ucz.2_Missense_Mutation_p.D1382H	p.D1431H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			24	4783	-			1431					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4291G>C		.	.	.	.	.	.	.	.	.	.	C	16.27	3.074957	0.55646	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96365	-3.99;-3.99;-3.94	5.47	5.47	0.80525	.	0.239012	0.38959	N	0.001511	D	0.96889	0.8984	L	0.58669	1.825	0.80722	D	1	B;B;D	0.56968	0.126;0.126;0.978	B;B;D	0.64237	0.262;0.262;0.923	D	0.96352	0.9259	10	0.62326	D	0.03	.	11.1866	0.48660	0.0:0.8571:0.0:0.1429	.	1382;1382;1431	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	1431;1431;1382	ENSP00000353206:D1431H;ENSP00000283254:D1431H;ENSP00000386726:D1382H	ENSP00000283254:D1431H	D	-	1	0	SCN3A	165661225	0.969000	0.33509	1.000000	0.80357	0.997000	0.91878	0.589000	0.23939	2.737000	0.93849	0.561000	0.74099	GAT		PASS	0.284	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		11	29	11	29	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171902795	171902795	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:171902795G>C	ENST00000431350.2	-	11	1462	c.1058C>G	c.(1057-1059)aCa>aGa	p.T353R	TLK1_ENST00000360843.3_Missense_Mutation_p.T374R|TLK1_ENST00000442919.2_Missense_Mutation_p.T305R|TLK1_ENST00000434911.2_Missense_Mutation_p.T257R|TLK1_ENST00000521943.1_Missense_Mutation_p.T305R			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	353					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T305R(1)|p.T353R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTATTAGCTGTGGGAGGTTT	0.388																																						uc002ugn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1057-1059)ACA>AGA		tousled-like kinase 1 isoform 1							222.0	205.0	211.0					2																	171902795		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171902795G>C	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1058C>G	2.37:g.171902795G>C	ENSP00000411099:p.Thr353Arg					TLK1_uc002ugo.2_Missense_Mutation_p.T374R|TLK1_uc002ugp.2_Missense_Mutation_p.T305R|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.T257R|TLK1_uc002ugr.1_Missense_Mutation_p.T136R	p.T353R	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			11	1530	-			353					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1058C>G	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163922	0.57476	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.61980	0.08;0.06;0.06;0.08;0.06	5.33	5.33	0.75918	.	0.116020	0.64402	D	0.000011	T	0.52075	0.1712	N	0.19112	0.55	0.44702	D	0.997691	B;B;B	0.33549	0.19;0.162;0.417	B;B;B	0.34779	0.067;0.189;0.063	T	0.53865	-0.8378	10	0.46703	T	0.11	-19.1719	19.3879	0.94565	0.0:0.0:1.0:0.0	.	257;374;353	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	R	305;353;374;305;257	ENSP00000402165:T305R;ENSP00000411099:T353R;ENSP00000354089:T374R;ENSP00000428113:T305R;ENSP00000409222:T257R	ENSP00000354089:T374R	T	-	2	0	TLK1	171611041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.009000	0.88606	2.652000	0.90054	0.591000	0.81541	ACA		PASS	0.388	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		22	37	22	37	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179436183	179436183	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:179436183A>T	ENST00000591111.1	-	276	69977	c.69753T>A	c.(69751-69753)agT>agA	p.S23251R	TTN_ENST00000359218.5_Missense_Mutation_p.S15952R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15827R|TTN_ENST00000342175.6_Missense_Mutation_p.S16019R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22324R|TTN_ENST00000589042.1_Missense_Mutation_p.S24892R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23251	Fibronectin type-III 68. {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.S22324R(1)|p.S22322R(1)|p.S15952R(1)|p.S16019R(1)|p.S15827R(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)			TGAGGTAGGTACTCTTCCCAT	0.458																																						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.(66970-66972)AGT>AGA		titin isoform N2-A							105.0	94.0	98.0					2																	179436183		1909	4132	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436183A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69753T>A	2.37:g.179436183A>T	ENSP00000465570:p.Ser23251Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S16019R|TTN_uc010zfi.1_Missense_Mutation_p.S15952R|TTN_uc010zfj.1_Missense_Mutation_p.S15827R	p.S22324R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67196	-			23251					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.66972T>A		.	.	.	.	.	.	.	.	.	.	A	9.214	1.031771	0.19590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.63	-2.54	0.06307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82038	0.4950	H	0.98466	4.24	0.30126	N	0.805239	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	D;D;D;P	0.64877	0.93;0.93;0.93;0.9	T	0.79638	-0.1720	9	0.87932	D	0	.	12.825	0.57714	0.5857:0.0:0.4143:0.0	.	15827;15952;16019;23251	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	22324;15827;16019;15952;15825	ENSP00000343764:S22324R;ENSP00000434586:S15827R;ENSP00000340554:S16019R;ENSP00000352154:S15952R	ENSP00000340554:S16019R	S	-	3	2	TTN	179144429	0.742000	0.28228	0.967000	0.41034	0.977000	0.68977	0.100000	0.15231	-0.606000	0.05746	-0.256000	0.11100	AGT		PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	27	20	27	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179516472	179516472	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:179516472G>T	ENST00000591111.1	-	161	35087	c.34863C>A	c.(34861-34863)acC>acA	p.T11621T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.T10694T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.T13128T			Q8WZ42	TITIN_HUMAN	titin	11621	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T10694T(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)			TAGGTGGTACGGTCACTAAAG	0.438																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(32080-32082)ACC>ACA		titin isoform N2-A							91.0	83.0	85.0					2																	179516472		1878	4108	5986	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516472G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34863C>A	2.37:g.179516472G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	p.T10694T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		160	32306	-			11621					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.32082C>A																																																																																					PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	22	10	22	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597774	179597774	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:179597774C>A	ENST00000591111.1	-	53	15402	c.15178G>T	c.(15178-15180)Gac>Tac	p.D5060Y	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4133Y|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D5377Y			Q8WZ42	TITIN_HUMAN	titin	12433	Ig-like 31.				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.D4133Y(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)			ATTTTGCAGTCCAGTCTGCAG	0.468																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12397-12399)GAC>TAC		titin isoform N2-A							68.0	63.0	65.0					2																	179597774		1935	4144	6079	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597774C>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.15178G>T	2.37:g.179597774C>A	ENSP00000465570:p.Asp5060Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D794Y	p.D4133Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		52	12621	-			5060					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.12397G>T		.	.	.	.	.	.	.	.	.	.	C	14.78	2.638158	0.47153	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80465	0.4628	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.79722	-0.1684	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5060	Q8WZ42	TITIN_HUMAN	Y	4133	ENSP00000343764:D4133Y	ENSP00000343764:D4133Y	D	-	1	0	TTN	179306019	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	22	19	22	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616631	179616631	+	Intron	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:179616631G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P3499H|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATATTCAGGCCAGGAGCT	0.378																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10495-10497)CCT>CAT		titin isoform novex-3							119.0	132.0	128.0					2																	179616631		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616631G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1219C>A	2.37:g.179616631G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P3499H	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10720	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10496C>A		.	.	.	.	.	.	.	.	.	.	G	17.80	3.478837	0.63849	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.61742	0.08	5.86	5.86	0.93980	.	.	.	.	.	T	0.66327	0.2778	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.65335	-0.6193	9	0.45353	T	0.12	.	19.7753	0.96389	0.0:0.0:1.0:0.0	.	3499	Q8WZ42-6	.	H	3499;104	ENSP00000354117:P3499H	ENSP00000354117:P3499H	P	-	2	0	TTN	179324876	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	5.151000	0.64875	2.777000	0.95525	0.655000	0.94253	CCT		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	112	32	112	---	---	---	---
CFLAR	8837	broad.mit.edu	37	2	202025610	202025610	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:202025610C>A	ENST00000309955.3	+	9	1764	c.1249C>A	c.(1249-1251)Cac>Aac	p.H417N	CFLAR_ENST00000423241.2_Missense_Mutation_p.H417N|CFLAR_ENST00000340870.5_Missense_Mutation_p.H417N|CFLAR_ENST00000479953.2_Missense_Mutation_p.H321N|CFLAR_ENST00000443227.1_Missense_Mutation_p.H321N|CFLAR_ENST00000341582.6_Missense_Mutation_p.H382N|CFLAR_ENST00000457277.1_Missense_Mutation_p.H417N|CFLAR_ENST00000355558.4_Intron	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	417	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.H417N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GGAGCAGTCTCACAGCTCACC	0.557																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1249-1251)CAC>AAC		CASP8 and FADD-like apoptosis regulator isoform							47.0	45.0	45.0					2																	202025610		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025610C>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1249C>A	2.37:g.202025610C>A	ENSP00000312455:p.His417Asn					CFLAR_uc010zhk.1_Missense_Mutation_p.H321N|CFLAR_uc002uxc.3_Missense_Mutation_p.H382N|CFLAR_uc010zhl.1_Missense_Mutation_p.H321N|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.H417N|CFLAR_uc002uxf.2_Missense_Mutation_p.H417N|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.H321N|CFLAR_uc010fsz.2_Missense_Mutation_p.H172N|CFLAR_uc002uxg.2_Missense_Mutation_p.H172N	p.H417N	NM_003879	NP_003870	O15519	CFLAR_HUMAN			9	1701	+			417			Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.1249C>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983321	0.35036	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	5.61	-9.56	0.00566	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.256280	0.04965	N	0.462763	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18013	0.003;0.025;0.001;0.012	B;B;B;B	0.11329	0.002;0.005;0.0;0.006	T	0.30268	-0.9984	10	0.33940	T	0.23	3.1405	11.5161	0.50522	0.1036:0.6827:0.104:0.1096	.	321;417;382;417	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	N	417;321;417;303;382;417;417	ENSP00000312455:H417N;ENSP00000413270:H321N;ENSP00000339326:H417N;ENSP00000345807:H382N;ENSP00000399420:H417N;ENSP00000411535:H417N	ENSP00000312455:H417N	H	+	1	0	CFLAR	201733855	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.067000	0.03451	-1.733000	0.01357	-0.351000	0.07748	CAC		PASS	0.557	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		11	36	11	36	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209136333	209136333	+	Silent	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:209136333T>C	ENST00000264380.4	+	2	248	c.90T>C	c.(88-90)ttT>ttC	p.F30F	PIKFYVE_ENST00000407449.1_Silent_p.F30F|PIKFYVE_ENST00000308862.6_Silent_p.F30F|PIKFYVE_ENST00000392202.3_Silent_p.F30F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	30					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.F30F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCACACACTTTAAACCTTTGA	0.388																																						uc002vcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(88-90)TTT>TTC		phosphatidylinositol-3-phosphate 5-kinase type							219.0	207.0	211.0					2																	209136333		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209136333T>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.90T>C	2.37:g.209136333T>C						PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.F30F|PIKFYVE_uc002vcv.2_Silent_p.F30F|PIKFYVE_uc002vcw.2_Silent_p.F30F|PIKFYVE_uc002vcx.2_Silent_p.F30F	p.F30F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			2	248	+			30					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.90T>C	CCDS2382.1																																																																																				PASS	0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		46	76	46	76	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220404600	220404600	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:220404600G>A	ENST00000243776.6	-	4	2081	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	CHPF_ENST00000535926.1_Silent_p.F449F	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	611					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.F611F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGCCAGCAGGAACAGTGTGT	0.637																																						uc002vmc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1831-1833)TTC>TTT		chondroitin polymerizing factor							78.0	84.0	82.0					2																	220404600		2200	4298	6498	SO:0001819	synonymous_variant	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404600G>A	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1833C>T	2.37:g.220404600G>A						CHPF_uc010zlh.1_Silent_p.F449F	p.F611F	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2060	-		Renal(207;0.0183)	611			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	c.1833C>T	CCDS2443.1																																																																																				PASS	0.637	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		28	34	28	34	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240960628	240960628	+	Missense_Mutation	SNP	T	T	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:240960628T>G	ENST00000252711.2	-	3	546	c.446A>C	c.(445-447)cAc>cCc	p.H149P	NDUFA10_ENST00000307300.4_Missense_Mutation_p.H149P|NDUFA10_ENST00000407129.3_Missense_Mutation_p.H149P|NDUFA10_ENST00000404554.1_Missense_Mutation_p.H149P	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	149					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.H149P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		GGTCAGCAAGTGCTCCAAGGC	0.473											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vyn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(445-447)CAC>CCC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						73.0	63.0	66.0					2																	240960628		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240960628T>G	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.446A>C	2.37:g.240960628T>G	ENSP00000252711:p.His149Pro		OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_uc010fzc.1_Missense_Mutation_p.H149P|NDUFA10_uc002vyo.1_Missense_Mutation_p.H149P|NDUFA10_uc002vyp.2_Missense_Mutation_p.H149P	p.H149P	NM_004544	NP_004535	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	3	526	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	149					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.446A>C	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132330	0.56828	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.96231	0.8771	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.998;1.0	D	0.96736	0.9543	10	0.87932	D	0	-30.4083	12.3192	0.54975	0.0:0.0:0.0:1.0	.	149;149;154;149	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	P	149	ENSP00000252711:H149P;ENSP00000385697:H149P;ENSP00000411527:H149P;ENSP00000302321:H149P;ENSP00000383975:H149P	ENSP00000252711:H149P	H	-	2	0	NDUFA10	240609301	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	4.545000	0.60698	1.865000	0.54081	0.460000	0.39030	CAC		PASS	0.473	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		3	22	3	22	---	---	---	---
BTD	686	broad.mit.edu	37	3	15643402	15643402	+	Splice_Site	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:15643402G>A	ENST00000303498.5	+	1	153		c.e1+1		HACL1_ENST00000451445.2_5'Flank|BTD_ENST00000437172.1_Splice_Site|HACL1_ENST00000457447.2_5'Flank|BTD_ENST00000449107.1_Intron|HACL1_ENST00000456194.2_5'Flank|BTD_ENST00000383778.4_5'Flank|HACL1_ENST00000435217.2_5'Flank|HACL1_ENST00000321169.5_5'Flank	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase						biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.?(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTAAGAGCAGGTACGGAGGGG	0.677																																						uc003cah.2																			1	Unknown(1)		lung(1)		0						c.e1+1		biotinidase precursor							32.0	36.0	34.0					3																	15643402		2203	4300	6503	SO:0001630	splice_region_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15643402G>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.44+1G>A	3.37:g.15643402G>A						HACL1_uc011avr.1_5'Flank|HACL1_uc011avs.1_5'Flank|HACL1_uc011avt.1_5'Flank|HACL1_uc003cag.2_5'Flank|HACL1_uc011avu.1_5'Flank|HACL1_uc010hep.2_5'Flank|HACL1_uc003caf.2_5'Flank|BTD_uc011avv.1_Intron|BTD_uc011avw.1_Splice_Site|BTD_uc011avx.1_5'Flank	p.R15_splice	NM_000060	NP_000051	P43251	BTD_HUMAN			1	147	+								A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Splice_Site	SNP	ENST00000303498.5	37	c.44_splice	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	G	7.468	0.646145	0.14451	.	.	ENSG00000169814	ENST00000303498	.	.	.	3.57	0.601	0.17529	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9724	0.03409	0.1174:0.2024:0.4722:0.2081	.	.	.	.	.	-1	.	.	.	+	.	.	BTD	15618406	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.206000	0.17375	0.107000	0.17824	0.462000	0.41574	.		PASS	0.677	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060	Intron	3	5	3	5	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38798202	38798202	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:38798202A>T	ENST00000449082.2	-	9	1252	c.1253T>A	c.(1252-1254)tTc>tAc	p.F418Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	418					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F418Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGCCTCCTGGAACTTCTTCTC	0.493																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1252-1254)TTC>TAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						150.0	143.0	146.0					3																	38798202		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798202A>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1253T>A	3.37:g.38798202A>T	ENSP00000390600:p.Phe418Tyr						p.F418Y	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1253	-			418					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1253T>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455660	0.63401	.	.	ENSG00000185313	ENST00000449082	D	0.96716	-4.1	5.21	5.21	0.72293	.	0.049603	0.85682	D	0.000000	D	0.93963	0.8067	L	0.43923	1.385	0.41720	D	0.989507	B	0.13594	0.008	B	0.12156	0.007	D	0.91584	0.5281	10	0.59425	D	0.04	.	15.5441	0.76081	1.0:0.0:0.0:0.0	.	418	Q9Y5Y9	SCNAA_HUMAN	Y	418	ENSP00000390600:F418Y	ENSP00000390600:F418Y	F	-	2	0	SCN10A	38773206	1.000000	0.71417	0.980000	0.43619	0.281000	0.26958	7.091000	0.76923	2.317000	0.78254	0.459000	0.35465	TTC		PASS	0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		50	39	50	39	---	---	---	---
XCR1	2829	broad.mit.edu	37	3	46063247	46063247	+	Missense_Mutation	SNP	G	G	A	rs201298985		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:46063247G>A	ENST00000309285.3	-	2	549	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	XCR1_ENST00000542109.1_Missense_Mutation_p.L65F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	65					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.L65F(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATGTTGGTGAGGGACTCCAGG	0.587																																						uc003cpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)CTC>TTC		XC chemokine receptor 1							137.0	132.0	134.0					3																	46063247		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063247G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.193C>T	3.37:g.46063247G>A	ENSP00000310405:p.Leu65Phe					uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.L65F	p.L65F	NM_005283	NP_005274	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	3	417	-			65			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000309285.3	37	c.193C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564043	0.65651	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.37915	1.17;1.17	5.24	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.145674	0.42172	D	0.000745	T	0.55657	0.1934	M	0.82193	2.58	0.47276	D	0.999372	D	0.71674	0.998	D	0.74348	0.983	T	0.57814	-0.7746	10	0.87932	D	0	.	4.7991	0.13287	0.2165:0.0:0.6132:0.1703	.	65	P46094	XCR1_HUMAN	F	65	ENSP00000310405:L65F;ENSP00000438119:L65F	ENSP00000310405:L65F	L	-	1	0	XCR1	46038251	0.998000	0.40836	0.993000	0.49108	0.974000	0.67602	2.575000	0.46025	1.209000	0.43321	0.650000	0.86243	CTC		PASS	0.587	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			12	11	12	11	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89528545	89528545	+	Splice_Site	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:89528545A>T	ENST00000336596.2	+	17	3071		c.e17-1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.?(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTTTTTTACAGTGACATGAA	0.383										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Unknown(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.e17-2		ephrin receptor EphA3 isoform a precursor							60.0	58.0	58.0					3																	89528545		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89528545A>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2847-1A>T	3.37:g.89528545A>T		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_Splice_Site	p.D949_splice	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	17	3072	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	c.2847_splice	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501666	0.64298	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2962	0.82776	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89611235	1.000000	0.71417	0.987000	0.45799	0.685000	0.39939	8.910000	0.92685	2.304000	0.77564	0.528000	0.53228	.		PASS	0.383	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	16	11	16	11	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108363257	108363257	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:108363257A>T	ENST00000361582.3	+	14	1618	c.1388A>T	c.(1387-1389)aAa>aTa	p.K463I	DZIP3_ENST00000463306.1_Missense_Mutation_p.K463I	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	463					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K463I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCGCAATCCAAACAGTTTGAC	0.423																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1387-1389)AAA>ATA		DAZ interacting protein 3, zinc finger							154.0	147.0	149.0					3																	108363257		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363257A>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1388A>T	3.37:g.108363257A>T	ENSP00000355028:p.Lys463Ile					DZIP3_uc003dxf.1_Missense_Mutation_p.K463I|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.K463I|DZIP3_uc003dxg.1_Missense_Mutation_p.K186I	p.K463I	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			14	1810	+			463					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1388A>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310999	0.60414	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.20738	2.05;2.05	4.39	3.25	0.37280	.	0.109029	0.41097	D	0.000951	T	0.23965	0.0580	L	0.27053	0.805	0.32396	N	0.552645	D;P	0.55385	0.971;0.952	P;P	0.58454	0.839;0.694	T	0.21930	-1.0231	10	0.87932	D	0	-16.2931	6.5371	0.22361	0.8936:0.0:0.1064:0.0	.	463;463	C9J9M8;Q86Y13	.;DZIP3_HUMAN	I	463	ENSP00000355028:K463I;ENSP00000419981:K463I	ENSP00000355028:K463I	K	+	2	0	DZIP3	109845947	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.228000	0.42981	1.023000	0.39654	0.533000	0.62120	AAA		PASS	0.423	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		73	72	73	72	---	---	---	---
FSTL1	11167	broad.mit.edu	37	3	120121721	120121721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:120121721C>A	ENST00000295633.3	-	9	1095	c.739G>T	c.(739-741)Gag>Tag	p.E247*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.E212*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	247	VWFC.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E247*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CAGTCCACCTCGGTCTCAGCT	0.532																																						uc003eds.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(739-741)GAG>TAG		follistatin-like 1 precursor							202.0	168.0	179.0					3																	120121721		2203	4300	6503	SO:0001587	stop_gained	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120121721C>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.739G>T	3.37:g.120121721C>A	ENSP00000295633:p.Glu247*					FSTL1_uc011bjh.1_Nonsense_Mutation_p.E212*	p.E247*	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	9	914	-			247			VWFC.		A8K523|B4DTT5|D3DN90|Q549Z0	Nonsense_Mutation	SNP	ENST00000295633.3	37	c.739G>T	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	40	7.950031	0.98577	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	.	.	.	5.67	3.75	0.43078	.	0.047258	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-25.6771	10.3757	0.44081	0.0:0.674:0.2433:0.0827	.	.	.	.	X	247;190;212	.	ENSP00000295633:E247X	E	-	1	0	FSTL1	121604411	1.000000	0.71417	0.927000	0.36925	0.715000	0.41141	4.629000	0.61290	1.544000	0.49359	0.655000	0.94253	GAG		PASS	0.532	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		5	95	5	95	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124431836	124431836	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:124431836G>T	ENST00000291478.5	+	25	3202	c.3039G>T	c.(3037-3039)gtG>gtT	p.V1013V	KALRN_ENST00000428018.2_Silent_p.V981V|KALRN_ENST00000360013.3_Silent_p.V2710V	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2709					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2710V(1)|p.V1013V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAAAGATGTGGCTGTGAAAT	0.438																																						uc003ehg.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8128-8130)GTG>GTT		kalirin, RhoGEF kinase isoform 1							71.0	75.0	74.0					3																	124431836		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124431836G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3039G>T	3.37:g.124431836G>T						KALRN_uc003ehk.2_Silent_p.V1013V	p.V2710V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			58	8257	+			2709			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.8130G>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767178	0.15983	.	.	ENSG00000160145	ENST00000354186	.	.	.	4.82	-9.63	0.00544	.	.	.	.	.	T	0.49830	0.1580	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61811	-0.6986	4	.	.	.	.	11.0186	0.47705	0.0:0.1557:0.4313:0.413	.	.	.	.	L	2679	.	.	W	+	2	0	KALRN	125914526	0.000000	0.05858	0.526000	0.27913	0.985000	0.73830	-3.042000	0.00632	-2.422000	0.00563	0.558000	0.71614	TGG		PASS	0.438	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		27	31	27	31	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124724179	124724179	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:124724179C>G	ENST00000311127.4	-	9	3294	c.3227G>C	c.(3226-3228)aGa>aCa	p.R1076T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1076					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R1076T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAGAAAAGTTCTCTTTAATTT	0.353																																						uc003ehs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3226-3228)AGA>ACA		HEG homolog 1 precursor							71.0	69.0	70.0					3																	124724179		1829	4091	5920	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124724179C>G	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3227G>C	3.37:g.124724179C>G	ENSP00000311502:p.Arg1076Thr					HEG1_uc011bke.1_Missense_Mutation_p.R1176T	p.R1076T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			9	3295	-			1076			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3227G>C	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289447	0.40494	.	.	ENSG00000173706	ENST00000311127	D	0.87887	-2.31	5.08	3.94	0.45596	.	0.249016	0.20408	U	0.092908	T	0.66336	0.2779	N	0.08118	0	0.24492	N	0.994297	P	0.39250	0.665	B	0.27170	0.077	T	0.58301	-0.7660	10	0.27082	T	0.32	.	5.9661	0.19326	0.0:0.1248:0.0:0.8752	.	1076	Q9ULI3	HEG1_HUMAN	T	1076	ENSP00000311502:R1076T	ENSP00000311502:R1076T	R	-	2	0	HEG1	126206869	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.232000	0.32636	0.975000	0.38392	0.563000	0.77884	AGA		PASS	0.353	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		11	19	11	19	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129389574	129389574	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:129389574T>A	ENST00000393238.3	-	4	1450	c.1110A>T	c.(1108-1110)agA>agT	p.R370S	TMCC1_ENST00000432054.2_Missense_Mutation_p.R46S|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256S|TMCC1_ENST00000329333.5_Missense_Mutation_p.R191S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R370S(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGCAATCTCTCTGGGCTTTG	0.532																																						uc003emz.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1108-1110)AGA>AGT		transmembrane and coiled-coil domain family 1							71.0	68.0	69.0					3																	129389574		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389574T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1110A>T	3.37:g.129389574T>A	ENSP00000376930:p.Arg370Ser					TMCC1_uc003emy.3_Missense_Mutation_p.R46S|TMCC1_uc011blc.1_Missense_Mutation_p.R191S|TMCC1_uc010htg.2_Missense_Mutation_p.R256S	p.R370S	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1611	-			370					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1110A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643179	0.67244	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.21	0.267	0.15622	.	0.048689	0.85682	D	0.000000	T	0.57592	0.2064	M	0.71581	2.175	0.54753	D	0.999989	P;P	0.49862	0.929;0.77	P;B	0.59012	0.85;0.422	T	0.54899	-0.8224	10	0.40728	T	0.16	-24.3516	9.6659	0.39983	0.0:0.3694:0.0:0.6306	.	191;370	B4DE04;O94876	.;TMCC1_HUMAN	S	46;370;256;191	ENSP00000404711:R46S;ENSP00000376930:R370S;ENSP00000389892:R256S;ENSP00000327349:R191S	ENSP00000327349:R191S	R	-	3	2	TMCC1	130872264	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	0.406000	0.21032	0.089000	0.17243	0.482000	0.46254	AGA		PASS	0.532	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		40	35	40	35	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130287403	130287403	+	Missense_Mutation	SNP	C	C	A	rs556475574		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:130287403C>A	ENST00000358511.6	+	5	2387	c.2356C>A	c.(2356-2358)Cgc>Agc	p.R786S	COL6A6_ENST00000453409.2_Missense_Mutation_p.R786S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	786	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.R786C(1)|p.R786S(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						CATTCTGCAGCGCATTGAAGA	0.458																																						uc010htl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2356-2358)CGC>AGC		collagen type VI alpha 6 precursor							121.0	120.0	120.0					3																	130287403		1883	4106	5989	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287403C>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.2356C>A	3.37:g.130287403C>A	ENSP00000351310:p.Arg786Ser						p.R786S	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	2387	+			786			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2356C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	0.931	-0.712669	0.03206	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82526	-1.62;-1.62	5.47	4.6	0.57074	von Willebrand factor, type A (3);	0.433344	0.21860	N	0.068056	T	0.59770	0.2218	N	0.03268	-0.37	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44406	-0.9330	10	0.08837	T	0.75	.	8.9774	0.35944	0.2968:0.5595:0.1437:0.0	.	786	A6NMZ7	CO6A6_HUMAN	S	786	ENSP00000351310:R786S;ENSP00000399236:R786S	ENSP00000351310:R786S	R	+	1	0	COL6A6	131770093	0.023000	0.18921	0.986000	0.45419	0.649000	0.38597	0.352000	0.20113	1.318000	0.45170	-0.218000	0.12543	CGC		PASS	0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		39	48	39	48	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130452690	130452690	+	Silent	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:130452690G>C	ENST00000356763.3	-	4	1709	c.1152C>G	c.(1150-1152)tcC>tcG	p.S384S		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	384					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S384S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCTGTAGGCAGGATGTTATAA	0.408																																						uc003enj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1150-1152)TCC>TCG		phosphoinositide-3-kinase, regulatory subunit 4							144.0	141.0	142.0					3																	130452690		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452690G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1152C>G	3.37:g.130452690G>C							p.S384S	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	1733	-			384					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.1152C>G	CCDS3067.1																																																																																				PASS	0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		38	141	38	141	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130715610	130715610	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:130715610A>G	ENST00000510168.1	+	24	2763	c.2213A>G	c.(2212-2214)aAt>aGt	p.N738S	ATP2C1_ENST00000533801.2_Missense_Mutation_p.N733S|ATP2C1_ENST00000359644.3_Missense_Mutation_p.N738S|ATP2C1_ENST00000504948.1_Missense_Mutation_p.N722S|ATP2C1_ENST00000507488.2_Missense_Mutation_p.N722S|ATP2C1_ENST00000422190.2_Missense_Mutation_p.N738S|ATP2C1_ENST00000513801.1_Missense_Mutation_p.N722S|ATP2C1_ENST00000393221.4_Missense_Mutation_p.N772S|ATP2C1_ENST00000504381.1_Missense_Mutation_p.N683S|ATP2C1_ENST00000428331.2_Missense_Mutation_p.N738S|ATP2C1_ENST00000505330.1_Missense_Mutation_p.N722S|ATP2C1_ENST00000508532.1_Missense_Mutation_p.N738S|ATP2C1_ENST00000328560.8_Missense_Mutation_p.N738S			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	738					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.N738S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGTGGATCAATATTATTATG	0.363									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2212-2214)AAT>AGT		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						133.0	131.0	132.0					3																	130715610		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130715610A>G	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2213A>G	3.37:g.130715610A>G	ENSP00000427461:p.Asn738Ser					ATP2C1_uc011blg.1_Missense_Mutation_p.N772S|ATP2C1_uc011blh.1_Missense_Mutation_p.N733S|ATP2C1_uc011bli.1_Missense_Mutation_p.N772S|ATP2C1_uc003enk.2_Missense_Mutation_p.N722S|ATP2C1_uc003enm.2_Missense_Mutation_p.N738S|ATP2C1_uc003enn.2_Missense_Mutation_p.N722S|ATP2C1_uc003eno.2_Missense_Mutation_p.N738S|ATP2C1_uc003enp.2_Missense_Mutation_p.N738S|ATP2C1_uc003enq.2_Missense_Mutation_p.N738S|ATP2C1_uc003enr.2_Missense_Mutation_p.N738S|ATP2C1_uc003ens.2_Missense_Mutation_p.N738S|ATP2C1_uc003ent.2_Missense_Mutation_p.N738S|ATP2C1_uc003enu.2_Missense_Mutation_p.N416S	p.N738S	NM_014382	NP_055197	P98194	AT2C1_HUMAN			24	2435	+			738			Helical; Name=6; (By similarity).	Calcium 2 (By similarity).	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.2213A>G	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.8|27.8	4.861994|4.861994	0.91433|0.91433	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97529	.|-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	5.73|5.73	5.73|5.73	0.89815|0.89815	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99187|0.99187	0.9718|0.9718	H|H	0.98849|0.98849	4.35|4.35	0.80722|0.80722	D|D	1|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	.|1.0;1.0;0.999;1.0;0.999;1.0;1.0	D|D	0.98818|0.98818	1.0746|1.0746	5|10	.|0.87932	.|D	.|0	.|.	16.0152|16.0152	0.80434|0.80434	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|772;733;772;738;772;738;738	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	V|S	692;256|722;683;722;772;733;738;738;722;722;738;738;738;738;737	.|ENSP00000423774:N722S;ENSP00000425320:N683S;ENSP00000421326:N722S;ENSP00000376914:N772S;ENSP00000432956:N733S;ENSP00000427461:N738S;ENSP00000424783:N738S;ENSP00000423330:N722S;ENSP00000422872:N722S;ENSP00000329664:N738S;ENSP00000395809:N738S;ENSP00000352665:N738S;ENSP00000402677:N738S	.|ENSP00000329664:N738S	I|N	+|+	1|2	0|0	ATP2C1|ATP2C1	132198300|132198300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.339000|9.339000	0.96797|0.96797	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	ATA|AAT		PASS	0.363	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		26	67	26	67	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133327499	133327499	+	Silent	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:133327499T>A	ENST00000260810.5	-	27	4436	c.4305A>T	c.(4303-4305)acA>acT	p.T1435T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1435	BRCT 8. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.T1348T(1)|p.T1435T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAAAAGATGTGTGGCCTCTT	0.388								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(4303-4305)ACA>ACT	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							85.0	76.0	79.0					3																	133327499		1832	4104	5936	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133327499T>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4305A>T	3.37:g.133327499T>A							p.T1435T	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			27	4437	-			1435			BRCT 8.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.4305A>T	CCDS46919.1																																																																																				PASS	0.388	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		11	64	11	64	---	---	---	---
KY	339855	broad.mit.edu	37	3	134339655	134339655	+	Silent	SNP	G	G	C	rs571652553		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:134339655G>C	ENST00000423778.2	-	7	589	c.528C>G	c.(526-528)ctC>ctG	p.L176L	KY_ENST00000508956.1_Silent_p.L155L|KY_ENST00000503669.1_Silent_p.L176L|KY_ENST00000508041.1_5'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	176					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.L176L(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGGCCTCCTGGAGCAGGTCAC	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19028	0.0		0.0	False		,,,				2504	0.0					uc010hty.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(526-528)CTC>CTG		kyphoscoliosis peptidase							58.0	65.0	63.0					3																	134339655		2001	4192	6193	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134339655G>C	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.528C>G	3.37:g.134339655G>C						KY_uc011blw.1_Silent_p.L176L|KY_uc011blx.1_Silent_p.L155L|KY_uc003eqr.1_5'UTR	p.L176L	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			7	590	-			176					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.528C>G	CCDS46920.1																																																																																				PASS	0.602	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		9	19	9	19	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136068095	136068095	+	Missense_Mutation	SNP	T	T	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:136068095T>G	ENST00000383202.2	-	29	3432	c.3176A>C	c.(3175-3177)gAt>gCt	p.D1059A	STAG1_ENST00000236698.5_Missense_Mutation_p.D1059A|STAG1_ENST00000434713.2_Missense_Mutation_p.D799A|STAG1_ENST00000536929.1_Missense_Mutation_p.D643A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1059					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D1059A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGACATTCTATCATCTTCACC	0.428																																						uc003era.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3175-3177)GAT>GCT		stromal antigen 1							142.0	128.0	133.0					3																	136068095		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136068095T>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3176A>C	3.37:g.136068095T>G	ENSP00000372689:p.Asp1059Ala					STAG1_uc003erb.1_Missense_Mutation_p.D1059A	p.D1059A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			29	3468	-			1059					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3176A>C	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506098	0.85282	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.39056	1.48;1.61;1.46;1.1	6.17	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.84326	2.69	0.80722	D	1	D;B	0.54964	0.969;0.25	P;B	0.52424	0.698;0.024	T	0.61058	-0.7139	10	0.41790	T	0.15	.	12.9591	0.58447	0.1209:0.0:0.0:0.8791	.	1059;1059	Q6P275;Q8WVM7	.;STAG1_HUMAN	A	1059;1059;799;643	ENSP00000372689:D1059A;ENSP00000236698:D1059A;ENSP00000404396:D799A;ENSP00000445787:D643A	ENSP00000236698:D1059A	D	-	2	0	STAG1	137550785	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		PASS	0.428	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		42	62	42	62	---	---	---	---
SLC35G2	80723	broad.mit.edu	37	3	136573495	136573495	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:136573495G>A	ENST00000446465.2	+	2	821	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.G65R|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.G65R(1)									GAAAAAAAAAGGGAGAGCTTT	0.403																																						uc003erf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)GGG>AGG		transmembrane protein 22							84.0	94.0	91.0					3																	136573495		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573495G>A	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.193G>A	3.37:g.136573495G>A	ENSP00000400839:p.Gly65Arg					TMEM22_uc003erg.3_Missense_Mutation_p.G65R|TMEM22_uc010hub.2_Missense_Mutation_p.G65R	p.G65R	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN			2	407	+			65						Missense_Mutation	SNP	ENST00000446465.2	37	c.193G>A	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068706	0.36470	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.24908	1.83;1.83	5.33	5.33	0.75918	.	0.377447	0.28527	N	0.015037	T	0.26991	0.0661	L	0.56769	1.78	0.54753	D	0.999983	P	0.44877	0.845	B	0.36845	0.234	T	0.05784	-1.0864	10	0.36615	T	0.2	.	17.5903	0.87994	0.0:0.0:1.0:0.0	.	65	Q8TBE7	TMM22_HUMAN	R	65	ENSP00000400839:G65R;ENSP00000376794:G65R	ENSP00000376794:G65R	G	+	1	0	TMEM22	138056185	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.083000	0.71326	2.496000	0.84212	0.491000	0.48974	GGG		PASS	0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		25	94	25	94	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147130317	147130317	+	Missense_Mutation	SNP	T	T	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:147130317T>G	ENST00000282928.4	+	2	1724	c.995T>G	c.(994-996)tTc>tGc	p.F332C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	332					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F332C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GAGAAGCCCTTCAAGTGCGAG	0.473																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(994-996)TTC>TGC		zinc finger protein of the cerebellum 1							71.0	67.0	68.0					3																	147130317		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130317T>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.995T>G	3.37:g.147130317T>G	ENSP00000282928:p.Phe332Cys						p.F332C	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1714	+			332			C2H2-type 4.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.995T>G	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.174926|4.174926	0.78564|0.78564	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000282928|ENST00000488404	T|.	0.24908|.	1.83|.	3.89|3.89	3.89|3.89	0.44902|0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.70928|0.70928	0.3280|0.3280	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.71715|0.71715	-0.4509|-0.4509	10|5	0.87932|.	D|.	0|.	.|.	12.8771|12.8771	0.57996|0.57996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	332|.	Q15915|.	ZIC1_HUMAN|.	C|A	332|21	ENSP00000282928:F332C|.	ENSP00000282928:F332C|.	F|S	+|+	2|1	0|0	ZIC1|ZIC1	148613007|148613007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.762000|7.762000	0.85270|0.85270	1.629000|1.629000	0.50426|0.50426	0.379000|0.379000	0.24179|0.24179	TTC|TCA		PASS	0.473	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		10	71	10	71	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153909148	153909148	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:153909148A>G	ENST00000356448.4	+	8	1995	c.1711A>G	c.(1711-1713)Atg>Gtg	p.M571V	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.M571V|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	571	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M571V(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GAACTTACCCATGATCTCTTT	0.463																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(1711-1713)ATG>GTG		Src homology 3 domain-containing guanine							115.0	105.0	108.0					3																	153909148		1927	4150	6077	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153909148A>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1711A>G	3.37:g.153909148A>G	ENSP00000348828:p.Met571Val					SGEF_uc011boh.1_Missense_Mutation_p.M571V	p.M571V	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		8	1922	+			571			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1711A>G	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211439	0.79240	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.28454	1.61;1.61	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.82056	2.57	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.76071	0.933;0.987	T	0.63937	-0.6524	10	0.66056	D	0.02	-40.6783	15.4105	0.74914	1.0:0.0:0.0:0.0	.	571;571	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	V	571	ENSP00000348828:M571V;ENSP00000423418:M571V	ENSP00000348828:M571V	M	+	1	0	ARHGEF26	155391838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.722000	0.91452	2.100000	0.63781	0.533000	0.62120	ATG		PASS	0.463	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		16	33	16	33	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154139080	154139080	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:154139080G>T	ENST00000389740.2	-	3	1470	c.1371C>A	c.(1369-1371)agC>agA	p.S457R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	457					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S457R(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGGCGTGGTGCTGATTTCTA	0.408																																						uc003faa.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1369-1371)AGC>AGA		G protein-coupled receptor 149							262.0	251.0	255.0					3																	154139080		1965	4137	6102	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154139080G>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1371C>A	3.37:g.154139080G>T	ENSP00000374390:p.Ser457Arg						p.S457R	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1471	-			457			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1371C>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070212	0.55539	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.15	3.3	0.37823	.	0.162448	0.64402	D	0.000003	T	0.50633	0.1627	M	0.68952	2.095	0.42457	D	0.992776	P	0.36599	0.56	B	0.31547	0.132	T	0.58154	-0.7686	9	0.87932	D	0	-9.8425	9.4935	0.38974	0.0758:0.0:0.78:0.1442	.	457	Q86SP6	GP149_HUMAN	R	457	.	ENSP00000374390:S457R	S	-	3	2	GPR149	155621774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.964000	0.56780	1.294000	0.44707	0.454000	0.30748	AGC		PASS	0.408	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		13	206	13	206	---	---	---	---
MME	4311	broad.mit.edu	37	3	154859822	154859822	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:154859822G>T	ENST00000460393.1	+	11	1120	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	MME_ENST00000492661.1_Missense_Mutation_p.V334L|MME_ENST00000462745.1_Missense_Mutation_p.V334L|MME_ENST00000493237.1_Missense_Mutation_p.V334L|MME_ENST00000360490.2_Missense_Mutation_p.V334L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	334					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V334L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CATGTCAACTGTGAATATTAG	0.363																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1000-1002)GTG>TTG		membrane metallo-endopeptidase	Candoxatril(DB00616)						95.0	98.0	97.0					3																	154859822		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154859822G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1000G>T	3.37:g.154859822G>T	ENSP00000418525:p.Val334Leu					MME_uc003fab.1_Missense_Mutation_p.V334L|MME_uc003fac.1_Missense_Mutation_p.V334L|MME_uc003fad.1_Missense_Mutation_p.V334L|MME_uc003fae.1_Missense_Mutation_p.V334L	p.V334L	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		11	1211	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	334			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1000G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606762	0.87157	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	6.02	6.02	0.97574	Peptidase M13 (1);	0.059085	0.64402	D	0.000002	D	0.87293	0.6141	L	0.39147	1.195	0.58432	D	0.999999	D	0.57899	0.981	P	0.61397	0.888	D	0.85283	0.1063	10	0.40728	T	0.16	-23.2372	20.5269	0.99230	0.0:0.0:1.0:0.0	.	334	P08473	NEP_HUMAN	L	334	ENSP00000420389:V334L;ENSP00000418525:V334L;ENSP00000419653:V334L;ENSP00000417079:V334L;ENSP00000353679:V334L	ENSP00000353679:V334L	V	+	1	0	MME	156342516	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.353000	0.90077	2.859000	0.98148	0.591000	0.81541	GTG		PASS	0.363	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		54	57	54	57	---	---	---	---
MFSD1	64747	broad.mit.edu	37	3	158541245	158541245	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:158541245T>C	ENST00000264266.8	+	12	1168	c.1106T>C	c.(1105-1107)cTt>cCt	p.L369P	MFSD1_ENST00000415822.2_Missense_Mutation_p.L418P|MFSD1_ENST00000392813.4_Missense_Mutation_p.L379P			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	369					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L418P(1)|p.L369P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACTCATTGCTTGCCTGTGCA	0.428																																					Pancreas(62;1186 1654 36636 37908)	uc003fcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1105-1107)CTT>CCT		major facilitator superfamily domain containing							322.0	284.0	297.0					3																	158541245		2203	4300	6503	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158541245T>C	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.1106T>C	3.37:g.158541245T>C	ENSP00000264266:p.Leu369Pro					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.L272P|MFSD1_uc011bow.1_Missense_Mutation_p.L330P|MFSD1_uc011box.1_Missense_Mutation_p.L296P	p.L369P	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	1136	+			369			Helical; (Potential).		B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.1106T>C		.	.	.	.	.	.	.	.	.	.	T	26.2	4.717060	0.89205	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000477743	T;T;T;D	0.81579	0.28;0.28;0.28;-1.51	5.78	5.78	0.91487	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.134831	0.49916	D	0.000138	D	0.91408	0.7289	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92373	0.5907	10	0.51188	T	0.08	.	16.1169	0.81309	0.0:0.0:0.0:1.0	.	379;369	C9JS94;Q9H3U5	.;MFSD1_HUMAN	P	418;379;369;184	ENSP00000403117:L418P;ENSP00000376560:L379P;ENSP00000264266:L369P;ENSP00000417163:L184P	ENSP00000264266:L369P	L	+	2	0	MFSD1	160023939	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.847000	0.86896	2.199000	0.70637	0.519000	0.50382	CTT		PASS	0.428	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		30	103	30	103	---	---	---	---
SI	6476	broad.mit.edu	37	3	164750383	164750383	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:164750383G>T	ENST00000264382.3	-	24	2725	c.2663C>A	c.(2662-2664)aCa>aAa	p.T888K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	888	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.T888K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTAACTTCTGTAACACTGTC	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2662-2664)ACA>AAA		sucrase-isomaltase	Acarbose(DB00284)						147.0	138.0	141.0					3																	164750383		2202	4299	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164750383G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2663C>A	3.37:g.164750383G>T	ENSP00000264382:p.Thr888Lys	HNSCC(35;0.089)					p.T888K	NM_001041	NP_001032	P14410	SUIS_HUMAN			24	2725	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	888			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2663C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113485	0.37339	.	.	ENSG00000090402	ENST00000264382	T	0.13657	2.57	4.88	0.981	0.19756	.	0.513560	0.20815	N	0.085168	T	0.10465	0.0256	L	0.48935	1.535	0.09310	N	0.999997	B	0.21309	0.054	B	0.11329	0.006	T	0.25467	-1.0131	10	0.32370	T	0.25	.	6.4281	0.21780	0.1596:0.2791:0.5613:0.0	.	888	P14410	SUIS_HUMAN	K	888	ENSP00000264382:T888K	ENSP00000264382:T888K	T	-	2	0	SI	166233077	0.902000	0.30710	0.020000	0.16555	0.608000	0.37181	1.032000	0.30178	0.055000	0.16094	0.655000	0.94253	ACA		PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		24	37	24	37	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179501871	179501871	+	Nonsense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:179501871C>G	ENST00000263966.3	+	21	3005	c.2534C>G	c.(2533-2535)tCa>tGa	p.S845*	USP13_ENST00000496897.1_Nonsense_Mutation_p.S780*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	845	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S845*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GTTTGTGCCTCAGAAAGGCCC	0.398																																						uc003fkh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2533-2535)TCA>TGA		ubiquitin thiolesterase 13							141.0	147.0	145.0					3																	179501871		2203	4300	6503	SO:0001587	stop_gained	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179501871C>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2534C>G	3.37:g.179501871C>G	ENSP00000263966:p.Ser845*						p.S845*	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		21	2615	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		845					A8K2S3|B4DYF3|D3DNS2|Q96B25	Nonsense_Mutation	SNP	ENST00000263966.3	37	c.2534C>G	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	44	10.635063	0.99441	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	.	.	.	5.99	5.99	0.97316	.	0.147221	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.8625	20.4488	0.99124	0.0:1.0:0.0:0.0	.	.	.	.	X	845;780	.	ENSP00000263966:S845X	S	+	2	0	USP13	180984565	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.843000	0.97960	0.655000	0.94253	TCA		PASS	0.398	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			58	176	58	176	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186445035	186445035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:186445035G>T	ENST00000265023.4	+	5	786	c.574G>T	c.(574-576)Gga>Tga	p.G192*	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Nonsense_Mutation_p.G192*|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	192	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G192*(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GGTGGTGGCTGGATTGAACTT	0.368																																						uc011bsa.1																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(574-576)GGA>TGA		kininogen 1 isoform 1	Ouabain(DB01092)						95.0	96.0	96.0					3																	186445035		2203	4300	6503	SO:0001587	stop_gained	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186445035G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.574G>T	3.37:g.186445035G>T	ENSP00000265023:p.Gly192*					KNG1_uc003fqr.2_Nonsense_Mutation_p.G192*	p.G192*	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	5	786	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		192			Cystatin 2.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Nonsense_Mutation	SNP	ENST00000265023.4	37	c.574G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527691	0.96446	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000432028	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4658	14.4947	0.67678	0.0:0.0:1.0:0.0	.	.	.	.	X	192;192;180	.	ENSP00000265023:G192X	G	+	1	0	KNG1	187927729	1.000000	0.71417	0.990000	0.47175	0.306000	0.27790	5.029000	0.64121	2.700000	0.92200	0.650000	0.86243	GGA		PASS	0.368	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		6	61	6	61	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427648	197427648	+	Missense_Mutation	SNP	G	G	A	rs533433095		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr3:197427648G>A	ENST00000296343.5	-	7	1096	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	KIAA0226_ENST00000449205.1_Missense_Mutation_p.A366V|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Missense_Mutation_p.A366V|KIAA0226_ENST00000273582.5_Missense_Mutation_p.A306V	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	366	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.A366V(1)|p.A306V(1)|p.A199V(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TAAGGAAGAGGCAGCAGAATC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18618	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1096-1098)GCC>GTC		hypothetical protein LOC9711 isoform 2.							50.0	55.0	54.0					3																	197427648		2006	4184	6190	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427648G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1097C>T	3.37:g.197427648G>A	ENSP00000296343:p.Ala366Val					KIAA0226_uc003fyd.3_Missense_Mutation_p.A306V|KIAA0226_uc003fye.1_Missense_Mutation_p.A73V|KIAA0226_uc003fyf.2_Missense_Mutation_p.A199V|KIAA0226_uc003fyg.2_Missense_Mutation_p.A359V	p.A366V	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1280	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		366			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1097C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.133378|3.133378	0.56828|0.56828	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000415452	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.335279|.	0.27917|.	N|.	0.017339|.	T|T	0.45776|0.45776	0.1359|0.1359	L|L	0.27053|0.27053	0.805|0.805	0.28886|0.28886	N|N	0.894119|0.894119	P;P;B;B;B|.	0.40431|.	0.717;0.702;0.376;0.383;0.376|.	B;B;B;B;B|.	0.40165|.	0.166;0.321;0.117;0.079;0.079|.	T|T	0.39742|0.39742	-0.9599|-0.9599	9|5	0.27082|.	T|.	0.32|.	.|.	17.6611|17.6611	0.88193|0.88193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	366;199;366;306;366|.	E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;.;RUBIC_HUMAN|.	V|S	306;366;366;366|125	.|.	ENSP00000273582:A306V|.	A|P	-|-	2|1	0|0	KIAA0226|KIAA0226	198912045|198912045	0.517000|0.517000	0.26226|0.26226	0.550000|0.550000	0.28217|0.28217	0.691000|0.691000	0.40173|0.40173	3.978000|3.978000	0.56881|0.56881	2.699000|2.699000	0.92147|0.92147	0.561000|0.561000	0.74099|0.74099	GCC|CCT		PASS	0.597	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		14	37	14	37	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	656969	656969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:656969C>A	ENST00000496514.1	+	15	1934	c.1913C>A	c.(1912-1914)tCg>tAg	p.S638*	PDE6B_ENST00000255622.6_Nonsense_Mutation_p.S638*|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Nonsense_Mutation_p.S359*			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	638					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.S638*(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TTCCTGCTCTCGGAGGAGGTT	0.617																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1912-1914)TCG>TAG		phosphodiesterase 6B isoform 1							119.0	103.0	109.0					4																	656969		2203	4300	6503	SO:0001587	stop_gained	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:656969C>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1913C>A	4.37:g.656969C>A	ENSP00000420295:p.Ser638*					PDE6B_uc003gao.3_Nonsense_Mutation_p.S638*|PDE6B_uc011buy.1_Nonsense_Mutation_p.S359*|PDE6B_uc011buz.1_Nonsense_Mutation_p.S70*	p.S638*	NM_000283	NP_000274	P35913	PDE6B_HUMAN			15	1966	+			638					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Nonsense_Mutation	SNP	ENST00000496514.1	37	c.1913C>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	37	6.197880	0.97367	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	.	.	.	4.19	4.19	0.49359	.	1.573410	0.03927	N	0.284615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.0267	0.64590	0.0:1.0:0.0:0.0	.	.	.	.	X	638;638;359	.	ENSP00000255622:S638X	S	+	2	0	PDE6B	646969	0.000000	0.05858	0.363000	0.25875	0.464000	0.32679	0.422000	0.21296	1.877000	0.54381	0.550000	0.68814	TCG		PASS	0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		3	21	3	21	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318706	3318706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:3318706C>A	ENST00000344733.5	+	2	1713	c.809C>A	c.(808-810)tCg>tAg	p.S270*	RGS12_ENST00000336727.3_Nonsense_Mutation_p.S270*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.S270*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.S270*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	270	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.S270*(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAATCCACTCGCTGGTGACC	0.617																																						uc003ggw.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(808-810)TCG>TAG		regulator of G-protein signalling 12 isoform 1							38.0	38.0	38.0					4																	3318706		2203	4300	6503	SO:0001587	stop_gained	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318706C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.809C>A	4.37:g.3318706C>A	ENSP00000339381:p.Ser270*					RGS12_uc003ggu.2_Nonsense_Mutation_p.S270*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.S270*|RGS12_uc003ggx.1_Nonsense_Mutation_p.S270*	p.S270*	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1713	+			270			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	ENST00000344733.5	37	c.809C>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	39	7.494954	0.98319	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-19.6864	15.8026	0.78468	0.0:1.0:0.0:0.0	.	.	.	.	X	270	.	ENSP00000338509:S270X	S	+	2	0	RGS12	3288504	1.000000	0.71417	0.924000	0.36721	0.950000	0.60333	5.811000	0.69187	1.952000	0.56665	0.491000	0.48974	TCG		PASS	0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	27	3	27	---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964609	15964609	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:15964609G>C	ENST00000259989.6	-	1	250	c.144C>G	c.(142-144)agC>agG	p.S48R	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	48						extracellular region (GO:0005576)		p.S48R(1)		central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCAAGCTGCTGGGACGCA	0.592																																						uc003gon.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)AGC>AGG		killer-specific secretory protein of 37 kDa							66.0	56.0	60.0					4																	15964609		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964609G>C	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.144C>G	4.37:g.15964609G>C	ENSP00000259989:p.Ser48Arg						p.S48R	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN			1	251	-			48						Missense_Mutation	SNP	ENST00000259989.6	37	c.144C>G	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676580	0.29783	.	.	ENSG00000137441	ENST00000259989	T	0.15952	2.38	2.72	-0.482	0.12078	.	0.154838	0.41823	U	0.000807	T	0.13628	0.0330	L	0.29908	0.895	0.09310	N	1	P	0.41313	0.745	P	0.47346	0.544	T	0.11916	-1.0568	10	0.72032	D	0.01	-4.9261	4.0113	0.09624	0.3737:0.1786:0.4477:0.0	.	48	Q9BYJ0	FGFP2_HUMAN	R	48	ENSP00000259989:S48R	ENSP00000259989:S48R	S	-	3	2	FGFBP2	15573707	0.007000	0.16637	0.002000	0.10522	0.011000	0.07611	0.322000	0.19576	-0.262000	0.09392	-0.157000	0.13467	AGC		PASS	0.592	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		11	32	11	32	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20533630	20533630	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:20533630C>T	ENST00000504154.1	+	17	1889	c.1637C>T	c.(1636-1638)aCc>aTc	p.T546I	SLIT2_ENST00000503823.1_Missense_Mutation_p.T538I|SLIT2_ENST00000503837.1_Missense_Mutation_p.T542I|SLIT2_ENST00000273739.5_Missense_Mutation_p.T550I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	546					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.T546I(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATGAATTTACCGTGTTGGAA	0.299																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1636-1638)ACC>ATC		slit homolog 2 precursor							48.0	48.0	48.0					4																	20533630		2203	4294	6497	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20533630C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1637C>T	4.37:g.20533630C>T	ENSP00000422591:p.Thr546Ile					SLIT2_uc003gps.1_Missense_Mutation_p.T538I	p.T546I	NM_004787	NP_004778	O94813	SLIT2_HUMAN			17	1841	+			546			LRR 12.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1637C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520098	0.64747	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.7	5.7	0.88788	.	0.044863	0.85682	D	0.000000	T	0.62134	0.2403	M	0.74647	2.275	0.80722	D	1	B;B	0.24368	0.102;0.061	B;B	0.18561	0.022;0.016	T	0.61347	-0.7081	10	0.62326	D	0.03	.	19.8481	0.96728	0.0:1.0:0.0:0.0	.	538;546	O94813-3;O94813	.;SLIT2_HUMAN	I	538;546;550;542;542	ENSP00000427548:T538I;ENSP00000422591:T546I;ENSP00000273739:T550I;ENSP00000422261:T542I	ENSP00000273739:T550I	T	+	2	0	SLIT2	20142728	1.000000	0.71417	0.984000	0.44739	0.757000	0.42996	5.593000	0.67550	2.705000	0.92388	0.650000	0.86243	ACC		PASS	0.299	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			14	31	14	31	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25821452	25821452	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:25821452G>A	ENST00000399878.3	-	8	1523	c.1401C>T	c.(1399-1401)caC>caT	p.H467H	SEL1L3_ENST00000264868.5_Silent_p.H432H|SEL1L3_ENST00000502949.1_Silent_p.H314H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	467						integral component of membrane (GO:0016021)		p.H467H(1)|p.H314H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCGCCCCCGTGCTTTGCTG	0.433																																						uc003gru.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1399-1401)CAC>CAT		sel-1 suppressor of lin-12-like 3							67.0	64.0	65.0					4																	25821452		1975	4148	6123	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25821452G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1401C>T	4.37:g.25821452G>A							p.H467H	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			8	1553	-			467					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.1401C>T	CCDS47037.1																																																																																				PASS	0.433	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		12	33	12	33	---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54327114	54327114	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:54327114A>G	ENST00000263925.7	-	11	2461	c.2147T>C	c.(2146-2148)aTt>aCt	p.I716T	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.I620T	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	716	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I620T(1)|p.I716T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTTAGAGTAATTCTTCCTTT	0.363																																						uc003hag.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(2146-2148)ATT>ACT		ligand of numb-protein X 1 isoform a							112.0	115.0	114.0					4																	54327114		2203	4298	6501	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54327114A>G	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.2147T>C	4.37:g.54327114A>G	ENSP00000263925:p.Ile716Thr					PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.I620T|LNX1_uc003hah.3_RNA	p.I716T	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		11	2403	-	all_neural(26;0.153)		716			PDZ 4.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.2147T>C	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616374	0.46736	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.33438	1.41;1.41	4.82	4.82	0.62117	PDZ/DHR/GLGF (4);	0.049557	0.85682	D	0.000000	T	0.51753	0.1693	M	0.78285	2.405	0.58432	D	0.999998	D;P	0.60575	0.988;0.891	P;P	0.57846	0.828;0.691	T	0.59231	-0.7493	10	0.87932	D	0	.	14.8265	0.70117	1.0:0.0:0.0:0.0	.	716;620	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	T	620;554;716	ENSP00000302879:I620T;ENSP00000263925:I716T	ENSP00000263925:I716T	I	-	2	0	LNX1	54021871	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	8.426000	0.90273	2.147000	0.66899	0.377000	0.23210	ATT		PASS	0.363	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			27	54	27	54	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57261688	57261688	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:57261688C>T	ENST00000264220.2	-	11	1521	c.1384G>A	c.(1384-1386)Gta>Ata	p.V462I	RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	462					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.V462I(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AGTCCTTCTACTGACAGATAC	0.343																																						uc003hbr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1384-1386)GTA>ATA		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						85.0	79.0	81.0					4																	57261688		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57261688C>T		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1384G>A	4.37:g.57261688C>T	ENSP00000264220:p.Val462Ile						p.V462I	NM_002703	NP_002694	Q06203	PUR1_HUMAN			11	1586	-	Glioma(25;0.08)|all_neural(26;0.101)		462						Missense_Mutation	SNP	ENST00000264220.2	37	c.1384G>A	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794325	0.50102	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.28	5.28	0.74379	.	0.059039	0.64402	D	0.000003	T	0.51787	0.1695	N	0.26130	0.795	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.41840	-0.9486	9	0.25106	T	0.35	-29.2839	19.2596	0.93962	0.0:1.0:0.0:0.0	.	462	Q06203	PUR1_HUMAN	I	462	.	ENSP00000264220:V462I	V	-	1	0	PPAT	56956445	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.712000	0.68407	2.628000	0.89032	0.650000	0.86243	GTA		PASS	0.343	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		16	36	16	36	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328018	80328018	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:80328018A>G	ENST00000358842.3	-	1	1354	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.V446A(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GGGTTTTATTACTGGAATATG	0.473																																						uc003hlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1336-1338)GTA>GCA		glycerol kinase 2							96.0	96.0	96.0					4																	80328018		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328018A>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1337T>C	4.37:g.80328018A>G	ENSP00000351706:p.Val446Ala						p.V446A	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1355	-			446					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1337T>C	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927173	0.34002	.	.	ENSG00000196475	ENST00000358842	D	0.92199	-2.99	4.21	4.21	0.49690	Carbohydrate kinase, FGGY, C-terminal (1);	0.062120	0.64402	D	0.000005	D	0.97620	0.9220	H	0.99169	4.455	0.53688	D	0.999976	P	0.45827	0.867	D	0.65684	0.937	D	0.98117	1.0423	10	0.87932	D	0	-14.9074	11.894	0.52646	1.0:0.0:0.0:0.0	.	446	Q14410	GLPK2_HUMAN	A	446	ENSP00000351706:V446A	ENSP00000351706:V446A	V	-	2	0	GK2	80547042	1.000000	0.71417	0.866000	0.34008	0.046000	0.14306	5.885000	0.69736	2.126000	0.65437	0.477000	0.44152	GTA		PASS	0.473	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		4	43	4	43	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96163623	96163623	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:96163623G>T	ENST00000453304.1	-	7	1413	c.1065C>A	c.(1063-1065)ctC>ctA	p.L355L	UNC5C_ENST00000506749.1_Silent_p.L355L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	355	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.L355L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGCAAGACGAGGCCGTCGC	0.552																																						uc003htp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1063-1065)CTC>CTA		unc5C precursor							62.0	52.0	55.0					4																	96163623		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163623G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1065C>A	4.37:g.96163623G>T						UNC5C_uc010ilc.1_Silent_p.L355L|UNC5C_uc003htq.2_Silent_p.L355L	p.L355L	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1219	-		Hepatocellular(203;0.114)	355			Extracellular (Potential).|TSP type-1 2.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1065C>A	CCDS3643.1																																																																																				PASS	0.552	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		15	11	15	11	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106888366	106888366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:106888366C>A	ENST00000379987.2	+	11	1583	c.1367C>A	c.(1366-1368)tCg>tAg	p.S456*	NPNT_ENST00000427316.2_Nonsense_Mutation_p.S486*|NPNT_ENST00000305572.8_Nonsense_Mutation_p.S427*|NPNT_ENST00000506666.1_Nonsense_Mutation_p.S457*|NPNT_ENST00000453617.2_Nonsense_Mutation_p.S473*|NPNT_ENST00000514622.1_Nonsense_Mutation_p.S427*	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	456	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.S456*(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CTGACAGTGTCGGCAGCCAAA	0.537																																						uc003hya.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1366-1368)TCG>TAG		nephronectin precursor							38.0	40.0	40.0					4																	106888366		2203	4300	6503	SO:0001587	stop_gained	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106888366C>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1367C>A	4.37:g.106888366C>A	ENSP00000369323:p.Ser456*					NPNT_uc011cfc.1_Nonsense_Mutation_p.S473*|NPNT_uc011cfd.1_Nonsense_Mutation_p.S486*|NPNT_uc011cfe.1_Nonsense_Mutation_p.S457*|NPNT_uc010ilt.1_Nonsense_Mutation_p.S427*|NPNT_uc011cff.1_Nonsense_Mutation_p.S427*|NPNT_uc010ilu.1_Intron	p.S456*	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	11	1572	+		Hepatocellular(203;0.217)	456			MAM.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Nonsense_Mutation	SNP	ENST00000379987.2	37	c.1367C>A	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977942	0.92982	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.	.	.	4.24	4.24	0.50183	.	0.416985	0.27245	N	0.020252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6734	0.45772	0.0:0.9107:0.0:0.0893	.	.	.	.	X	456;473;486;427;427;457;503	.	ENSP00000302557:S427X	S	+	2	0	NPNT	107107815	0.682000	0.27624	0.079000	0.20413	0.072000	0.16883	5.175000	0.65021	2.075000	0.62263	0.650000	0.86243	TCG		PASS	0.537	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		3	19	3	19	---	---	---	---
HPGD	3248	broad.mit.edu	37	4	175414319	175414319	+	Silent	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:175414319T>C	ENST00000296522.6	-	6	1091	c.645A>G	c.(643-645)aaA>aaG	p.K215K	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Silent_p.K94K|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Silent_p.K94K|HPGD_ENST00000422112.2_Silent_p.K147K	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	215					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.K215K(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		TTCCATAGTATTTAATCATAT	0.289																																						uc003itu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(643-645)AAA>AAG		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						59.0	58.0	58.0					4																	175414319		2202	4299	6501	SO:0001819	synonymous_variant	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175414319T>C		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.645A>G	4.37:g.175414319T>C						HPGD_uc003itt.2_Silent_p.K82K|HPGD_uc003itv.2_Intron|HPGD_uc011ckf.1_Silent_p.K94K|HPGD_uc010irp.2_Silent_p.K94K|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.K147K|HPGD_uc011ckh.1_Silent_p.K94K	p.K215K	NM_000860	NP_000851	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	6	835	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	215					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	ENST00000296522.6	37	c.645A>G	CCDS3821.1																																																																																				PASS	0.289	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			6	10	6	10	---	---	---	---
SPCS3	60559	broad.mit.edu	37	4	177241318	177241318	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:177241318G>C	ENST00000503362.1	+	1	204	c.91G>C	c.(91-93)Gcc>Ccc	p.A31P	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.A31P(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CATCACCACCGCCTTCAAAGA	0.677																																						uc003iur.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)GCC>CCC		signal peptidase complex subunit 3							50.0	58.0	55.0					4																	177241318		2027	4189	6216	SO:0001583	missense	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177241318G>C	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.91G>C	4.37:g.177241318G>C	ENSP00000427463:p.Ala31Pro						p.A31P	NM_021928	NP_068747	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	1	229	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	31			Helical; Signal-anchor for type II membrane protein; (Potential).		P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	c.91G>C	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995439	0.54147	.	.	ENSG00000129128	ENST00000503362	.	.	.	3.34	2.49	0.30216	.	0.060087	0.64402	D	0.000003	T	0.69611	0.3130	M	0.73962	2.25	0.58432	D	0.999991	D	0.54207	0.965	D	0.64237	0.923	T	0.68051	-0.5511	9	0.42905	T	0.14	-3.9773	9.6473	0.39875	0.1092:0.0:0.8908:0.0	.	31	P61009	SPCS3_HUMAN	P	31	.	ENSP00000427463:A31P	A	+	1	0	SPCS3	177478312	1.000000	0.71417	0.999000	0.59377	0.125000	0.20455	5.946000	0.70234	0.714000	0.32081	0.455000	0.32223	GCC		PASS	0.677	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		11	20	11	20	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183675635	183675635	+	Missense_Mutation	SNP	G	G	T	rs543878787	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr4:183675635G>T	ENST00000511685.1	+	22	4238	c.4115G>T	c.(4114-4116)cGt>cTt	p.R1372L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1372L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1372					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1372L(1)|p.R1372H(1)									ACTGAAAATCGTCAAGTTCGC	0.493																																						uc003ivd.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(4114-4116)CGT>CTT		odz, odd Oz/ten-m homolog 3							59.0	56.0	57.0					4																	183675635		1973	4175	6148	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183675635G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4115G>T	4.37:g.183675635G>T	ENSP00000424226:p.Arg1372Leu					ODZ3_uc003ive.1_Missense_Mutation_p.R785L	p.R1372L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	21	4152	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1372			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4115G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305974	0.40795	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90676	-2.71;-2.71	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.82641	0.5081	N	0.16602	0.42	0.39493	D	0.968086	B	0.23650	0.089	B	0.19666	0.026	T	0.78036	-0.2361	9	0.32370	T	0.25	.	13.0014	0.58679	0.0729:0.0:0.9271:0.0	.	1372	Q9P273	TEN3_HUMAN	L	1372	ENSP00000424226:R1372L;ENSP00000385276:R1372L	ENSP00000385276:R1372L	R	+	2	0	ODZ3	183912629	1.000000	0.71417	0.643000	0.29450	0.899000	0.52679	6.606000	0.74159	2.906000	0.99361	0.655000	0.94253	CGT		PASS	0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			13	9	13	9	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1432624	1432624	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:1432624C>A	ENST00000270349.9	-	4	735	c.608G>T	c.(607-609)gGc>gTc	p.G203V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G203V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	203					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.G203V(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)	GTCGTTGAGGCCCGAGCTGTC	0.612																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(607-609)GGC>GTC		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)						102.0	90.0	94.0					5																	1432624		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432624C>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.608G>T	5.37:g.1432624C>A	ENSP00000270349:p.Gly203Val						p.G203V	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	729	-			203			Extracellular (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.608G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484352	0.12641	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.73897	-0.79;-0.79;-0.79	4.34	1.19	0.21007	.	1.234620	0.05362	N	0.533777	T	0.51924	0.1703	N	0.08118	0	0.24034	N	0.996102	B	0.12013	0.005	B	0.15870	0.014	T	0.37056	-0.9722	10	0.16896	T	0.51	.	5.5568	0.17121	0.0:0.6175:0.1697:0.2128	.	203	Q01959	SC6A3_HUMAN	V	203;203;129	ENSP00000270349:G203V;ENSP00000399806:G203V;ENSP00000429101:G129V	ENSP00000270349:G203V	G	-	2	0	SLC6A3	1485624	0.057000	0.20700	0.007000	0.13788	0.114000	0.19823	1.007000	0.29860	0.426000	0.26116	0.591000	0.81541	GGC		PASS	0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	44	4	44	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13716740	13716740	+	Silent	SNP	G	G	A	rs561983296		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:13716740G>A	ENST00000265104.4	-	74	12869	c.12765C>T	c.(12763-12765)gtC>gtT	p.V4255V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4255					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.V4255V(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)					AGTCGTCAGTGACTCTGCCTC	0.388									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.001					uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12763-12765)GTC>GTT		dynein, axonemal, heavy chain 5							113.0	99.0	104.0					5																	13716740		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:13716740G>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.12765C>T	5.37:g.13716740G>A						DNAH5_uc003jfc.2_Silent_p.V423V	p.V4255V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			74	12807	-	Lung NSC(4;0.00476)		4255					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.12765C>T	CCDS3882.1																																																																																				PASS	0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	44	20	44	---	---	---	---
FAM134B	54463	broad.mit.edu	37	5	16475279	16475279	+	Silent	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:16475279A>G	ENST00000306320.9	-	9	1151	c.1065T>C	c.(1063-1065)aaT>aaC	p.N355N	FAM134B_ENST00000399793.2_Silent_p.N214N	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	355					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.N214N(1)|p.N355N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TTCCCATGCCATTTTCTAGAG	0.428																																						uc003jfs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(1063-1065)AAT>AAC		hypothetical protein LOC54463 isoform 1							95.0	88.0	90.0					5																	16475279		1862	4103	5965	SO:0001819	synonymous_variant	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16475279A>G	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1065T>C	5.37:g.16475279A>G						FAM134B_uc003jfr.2_Silent_p.N214N	p.N355N	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			9	1103	-			355					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	c.1065T>C	CCDS43304.1																																																																																				PASS	0.428	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		39	46	39	46	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23510030	23510030	+	Splice_Site	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:23510030T>C	ENST00000296682.3	+	4	377	c.195T>C	c.(193-195)ggT>ggC	p.G65G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	65	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.G65G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTTTTCAGGTCTCAGAGCCA	0.488										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(193-195)GGT>GGC		PR domain containing 9							66.0	63.0	64.0					5																	23510030		1874	4116	5990	SO:0001630	splice_region_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510030T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.194-1T>C	5.37:g.23510030T>C		HNSCC(3;0.000094)					p.G65G	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			4	377	+			65			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.195T>C	CCDS43307.1																																																																																				PASS	0.488	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	Silent	29	46	29	46	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23526702	23526702	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:23526702A>T	ENST00000296682.3	+	11	1687	c.1505A>T	c.(1504-1506)cAg>cTg	p.Q502L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	502					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Q502L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAACAGGCCAGAAAGTGAAT	0.453										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1504-1506)CAG>CTG		PR domain containing 9							72.0	71.0	71.0					5																	23526702		1985	4167	6152	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526702A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1505A>T	5.37:g.23526702A>T	ENSP00000296682:p.Gln502Leu	HNSCC(3;0.000094)					p.Q502L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1687	+			502					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1505A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068594	0.55539	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08984	3.03	2.71	1.52	0.23074	.	0.000000	0.34580	N	0.003842	T	0.14960	0.0361	L	0.58101	1.795	0.28880	N	0.894478	D	0.59357	0.985	P	0.55923	0.787	T	0.03008	-1.1083	10	0.87932	D	0	-0.8746	6.2582	0.20885	0.8627:0.0:0.1373:0.0	.	502	Q9NQV7	PRDM9_HUMAN	L	502;296	ENSP00000296682:Q502L	ENSP00000253473:Q296L	Q	+	2	0	PRDM9	23562459	0.524000	0.26282	0.046000	0.18839	0.230000	0.25150	1.553000	0.36255	0.420000	0.25954	0.413000	0.27773	CAG		PASS	0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		29	55	29	55	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31299570	31299570	+	Splice_Site	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:31299570G>T	ENST00000265071.2	+	5	908		c.e5-1		CDH6_ENST00000514738.1_Splice_Site	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACATCCACAGGTATTATCAA	0.408																																						uc003jhe.1																			1	Unknown(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.e5-1		cadherin 6, type 2 preproprotein							115.0	114.0	114.0					5																	31299570		2203	4300	6503	SO:0001630	splice_region_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31299570G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.644-1G>T	5.37:g.31299570G>T						CDH6_uc003jhd.1_Splice_Site_p.G215_splice	p.G215_splice	NM_004932	NP_004923	P55285	CADH6_HUMAN			5	970	+								A8K5H5|Q9BWS0	Splice_Site	SNP	ENST00000265071.2	37	c.644_splice	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403697	0.83230	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH6	31335327	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	9.793000	0.99091	2.885000	0.99019	0.655000	0.94253	.		PASS	0.408	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	Intron	6	102	6	102	---	---	---	---
HSPA9	3313	broad.mit.edu	37	5	137895598	137895598	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:137895598G>T	ENST00000297185.3	-	11	1490	c.1365C>A	c.(1363-1365)acC>acA	p.T455T	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	455					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.T455T(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAATAAGTTTGGTAAAGACAC	0.478																																						uc003ldf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1363-1365)ACC>ACA		heat shock 70kDa protein 9 precursor							68.0	73.0	71.0					5																	137895598		2203	4300	6503	SO:0001819	synonymous_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137895598G>T	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1365C>A	5.37:g.137895598G>T						HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Silent_p.T386T	p.T455T	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1473	-			455					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	c.1365C>A	CCDS4208.1																																																																																				PASS	0.478	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		4	29	4	29	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193044	139193044	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:139193044C>T	ENST00000274710.3	+	3	727	c.522C>T	c.(520-522)gtC>gtT	p.V174V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	174					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.V174V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCTGCGTCAGCTTCGAGG	0.652																																						uc003leu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(520-522)GTC>GTT		pleckstrin and Sec7 domain containing 2							40.0	42.0	42.0					5																	139193044		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193044C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.522C>T	5.37:g.139193044C>T							p.V174V	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	727	+			174					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.522C>T	CCDS4216.1																																																																																				PASS	0.652	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		13	6	13	6	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176083	140176083	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:140176083G>A	ENST00000526136.1	+	1	1534	c.1534G>A	c.(1534-1536)Gcg>Acg	p.A512T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A512T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A512T|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	512	Cadherin 5. {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.A512T(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTGCACGCGGAGAGCGG	0.697																																						uc003lhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1534-1536)GCG>ACG		protocadherin alpha 2 isoform 1 precursor							62.0	64.0	63.0					5																	140176083		2203	4298	6501	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176083G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1534G>A	5.37:g.140176083G>A	ENSP00000431748:p.Ala512Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A512T|PCDHA2_uc011czy.1_Missense_Mutation_p.A512T	p.A512T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1640	+			512			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1534G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	16.73	3.203258	0.58234	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.47869	0.83;0.83;0.83	3.88	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.445392	0.15820	U	0.243058	T	0.47116	0.1428	L	0.41906	1.305	0.23581	N	0.997369	P;P;P	0.44627	0.839;0.778;0.839	B;P;B	0.50270	0.301;0.636;0.301	T	0.31308	-0.9948	10	0.62326	D	0.03	.	9.3214	0.37966	0.0:0.1167:0.6567:0.2265	.	512;512;512	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	512	ENSP00000430584:A512T;ENSP00000367372:A512T;ENSP00000431748:A512T	ENSP00000367372:A512T	A	+	1	0	PCDHA2	140156267	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.497000	0.06428	1.903000	0.55091	0.644000	0.83932	GCG		PASS	0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		16	25	16	25	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156482466	156482466	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:156482466A>G	ENST00000339252.3	-	2	657	c.125T>C	c.(124-126)gTc>gCc	p.V42A	HAVCR1_ENST00000425854.1_Missense_Mutation_p.V42A|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V42A|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V42A|HAVCR1_ENST00000522693.1_Missense_Mutation_p.V42A	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.V42A(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGATGTGACAGCTCCACT	0.483																																						uc010jij.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)GTC>GCC		hepatitis A virus cellular receptor 1							84.0	80.0	81.0					5																	156482466		1979	4171	6150	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482466A>G	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.125T>C	5.37:g.156482466A>G	ENSP00000344844:p.Val42Ala					HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.V42A|HAVCR1_uc011ddm.1_Missense_Mutation_p.V42A	p.V42A	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	310	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	42			Extracellular (Potential).|Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.125T>C	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783479	0.49891	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.44	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.182450	0.05976	N	0.643298	T	0.61073	0.2318	L	0.28556	0.865	0.09310	N	1	P;P	0.47484	0.896;0.896	P;P	0.48368	0.575;0.575	T	0.54430	-0.8295	10	0.66056	D	0.02	-3.3376	11.2411	0.48970	0.8469:0.1531:0.0:0.0	.	42;42	F1CME6;Q96D42	.;HAVR1_HUMAN	A	42	ENSP00000428524:V42A;ENSP00000427898:V42A;ENSP00000344844:V42A;ENSP00000403333:V42A;ENSP00000440258:V42A;ENSP00000428422:V42A	ENSP00000344844:V42A	V	-	2	0	HAVCR1	156415044	0.827000	0.29292	0.034000	0.17996	0.204000	0.24138	1.973000	0.40550	2.057000	0.61298	0.528000	0.53228	GTC		PASS	0.483	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			6	4	6	4	---	---	---	---
HIST1H2BA	255626	broad.mit.edu	37	6	25727146	25727146	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:25727146G>A	ENST00000274764.2	+	1	10	c.10G>A	c.(10-12)Gtg>Atg	p.V4M	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	4					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V4M(1)		breast(1)|kidney(1)	2						TATGCCGGAGGTGTCATCTAA	0.473																																						uc003nfd.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(10-12)GTG>ATG		histone cluster 1, H2ba							439.0	363.0	389.0					6																	25727146		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727146G>A	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.10G>A	6.37:g.25727146G>A	ENSP00000274764:p.Val4Met					HIST1H2AA_uc003nfc.2_5'Flank	p.V4M	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN			1	10	+			4					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.10G>A	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	G	7.468	0.646054	0.14451	.	.	ENSG00000146047	ENST00000274764	T	0.18016	2.24	3.07	-6.15	0.02105	.	0.894600	0.09053	N	0.855522	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.16289	0.015	T	0.35549	-0.9784	10	0.45353	T	0.12	.	4.9602	0.14063	0.0878:0.5279:0.2754:0.109	.	4	Q96A08	H2B1A_HUMAN	M	4	ENSP00000274764:V4M	ENSP00000274764:V4M	V	+	1	0	HIST1H2BA	25835125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.978000	0.03778	-3.566000	0.00140	-1.411000	0.01122	GTG		PASS	0.473	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		25	36	25	36	---	---	---	---
SLC17A4	10050	broad.mit.edu	37	6	25770337	25770337	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:25770337C>G	ENST00000377905.4	+	4	459	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	114					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L114V(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGAATCATCCTCAGCTCCCT	0.458																																						uc003nfe.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(340-342)CTC>GTC		solute carrier family 17 (sodium phosphate),							195.0	190.0	192.0					6																	25770337		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25770337C>G	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.340C>G	6.37:g.25770337C>G	ENSP00000367137:p.Leu114Val					SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Missense_Mutation_p.L51V	p.L114V	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			4	459	+			114					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.340C>G	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664531	0.67700	.	.	ENSG00000146039	ENST00000377905	T	0.57752	0.38	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.48286	D	0.000199	T	0.77143	0.4087	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82596	-0.0379	10	0.56958	D	0.05	.	14.9478	0.71047	0.0:1.0:0.0:0.0	.	114	Q9Y2C5	S17A4_HUMAN	V	114	ENSP00000367137:L114V	ENSP00000367137:L114V	L	+	1	0	SLC17A4	25878316	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.338000	0.43957	2.677000	0.91161	0.563000	0.77884	CTC		PASS	0.458	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			37	77	37	77	---	---	---	---
DEF6	50619	broad.mit.edu	37	6	35280413	35280413	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:35280413G>T	ENST00000316637.5	+	5	676	c.671G>T	c.(670-672)tGg>tTg	p.W224L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.W224L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCTACCTGTGGAAGCGAGGG	0.612																																						uc003okk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)TGG>TTG		differentially expressed in FDCP 6 homolog							35.0	37.0	36.0					6																	35280413		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280413G>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.671G>T	6.37:g.35280413G>T	ENSP00000319831:p.Trp224Leu					DEF6_uc010jvs.2_Missense_Mutation_p.W224L|DEF6_uc010jvt.2_Intron	p.W224L	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			5	710	+			224			PH.		Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.671G>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732660	0.30684	.	.	ENSG00000023892	ENST00000316637	T	0.10860	2.83	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.059556	0.64402	D	0.000001	T	0.02418	0.0074	N	0.11000	0.08	0.80722	D	1	B;B	0.30326	0.276;0.276	B;B	0.32393	0.145;0.145	T	0.47799	-0.9089	10	0.13108	T	0.6	-23.8582	13.8821	0.63688	0.0:0.0:0.8475:0.1524	.	224;224	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	L	224	ENSP00000319831:W224L	ENSP00000319831:W224L	W	+	2	0	DEF6	35388391	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.334000	0.72944	2.547000	0.85894	0.655000	0.94253	TGG		PASS	0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		8	9	8	9	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38939383	38939383	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:38939383C>A	ENST00000359357.3	+	81	12070	c.11816C>A	c.(11815-11817)tCa>tAa	p.S3939*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S3903*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S4156*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3939	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3939*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAACTATCTCAATGGGGCAA	0.378																																						uc003ooe.1																			2	Substitution - Nonsense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(11815-11817)TCA>TAA		dynein, axonemal, heavy polypeptide 8							147.0	127.0	134.0					6																	38939383		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38939383C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11816C>A	6.37:g.38939383C>A	ENSP00000352312:p.Ser3939*					DNAH8_uc003oog.1_Nonsense_Mutation_p.S388*	p.S3939*	NM_001371	NP_001362					81	12416	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.11816C>A		.	.	.	.	.	.	.	.	.	.	C	54	22.181520	0.99946	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.407	0.90539	0.0:1.0:0.0:0.0	.	.	.	.	X	4144;4144;3939;3903	.	ENSP00000333363:S4144X	S	+	2	0	DNAH8	39047361	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.977000	0.76141	2.335000	0.79485	0.555000	0.69702	TCA		PASS	0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	90	6	90	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51907930	51907930	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:51907930C>G	ENST00000371117.3	-	27	3099	c.2824G>C	c.(2824-2826)Ggt>Cgt	p.G942R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G942R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	942	IPT/TIG 4.				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.G942R(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)					TTGATGTCACCATCTTAAAGG	0.343																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2824-2826)GGT>CGT		fibrocystin isoform 1							47.0	49.0	48.0					6																	51907930		2203	4300	6503	SO:0001583	missense	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.chr6:51907930C>G	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.2824G>C	6.37:g.51907930C>G	ENSP00000360158:p.Gly942Arg					PKHD1_uc003pai.2_Missense_Mutation_p.G942R	p.G942R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3100	-	Lung NSC(77;0.0605)		942			IPT/TIG 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2824G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	7.176	0.588570	0.13812	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89123	-2.47;-2.47	5.63	2.79	0.32731	Immunoglobulin E-set (1);	0.861431	0.10433	N	0.675337	T	0.70806	0.3266	L	0.44542	1.39	0.22947	N	0.998526	B;P	0.35226	0.435;0.491	B;B	0.31101	0.076;0.124	T	0.61917	-0.6964	10	0.54805	T	0.06	.	6.3273	0.21251	0.0:0.6807:0.1508:0.1685	.	942;942	P08F94-2;P08F94	.;PKHD1_HUMAN	R	942	ENSP00000360158:G942R;ENSP00000341097:G942R	ENSP00000341097:G942R	G	-	1	0	PKHD1	52015889	0.003000	0.15002	0.213000	0.23690	0.044000	0.14063	0.334000	0.19787	0.294000	0.22547	0.650000	0.86243	GGT		PASS	0.343	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	9	6	9	---	---	---	---
GSTA1	2938	broad.mit.edu	37	6	52656747	52656747	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:52656747G>T	ENST00000334575.5	-	7	733	c.578C>A	c.(577-579)aCa>aAa	p.T193K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	193	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.T193K(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CTTCTTCACTGTGGGCAGGTT	0.473																																						uc003paz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)ACA>AAA		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						124.0	122.0	123.0					6																	52656747		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52656747G>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.578C>A	6.37:g.52656747G>T	ENSP00000335620:p.Thr193Lys						p.T193K	NM_145740	NP_665683	P08263	GSTA1_HUMAN			7	690	-	Lung NSC(77;0.118)		193			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.578C>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	5.044	0.193773	0.09599	.	.	ENSG00000243955	ENST00000334575	T	0.10288	2.89	2.44	1.4	0.22301	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.323133	0.28376	N	0.015565	T	0.03871	0.0109	L	0.58583	1.82	0.28292	N	0.923507	B	0.24186	0.099	B	0.18561	0.022	T	0.27571	-1.0070	10	0.52906	T	0.07	.	7.327	0.26561	0.0:0.1783:0.6404:0.1813	.	193	P08263	GSTA1_HUMAN	K	193	ENSP00000335620:T193K	ENSP00000335620:T193K	T	-	2	0	GSTA1	52764706	0.001000	0.12720	0.056000	0.19401	0.171000	0.22731	0.312000	0.19397	1.048000	0.40298	0.205000	0.17691	ACA		PASS	0.473	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			8	87	8	87	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72967848	72967848	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:72967848A>G	ENST00000521978.1	+	17	2791	c.2791A>G	c.(2791-2793)Aga>Gga	p.R931G	RIMS1_ENST00000491071.2_Missense_Mutation_p.R931G|RIMS1_ENST00000401910.3_Missense_Mutation_p.R404G|RIMS1_ENST00000522291.1_Missense_Mutation_p.R930G|RIMS1_ENST00000523963.1_Missense_Mutation_p.R405G|RIMS1_ENST00000264839.7_Missense_Mutation_p.R931G|RIMS1_ENST00000425662.2_Missense_Mutation_p.R324G|RIMS1_ENST00000517960.1_Missense_Mutation_p.R930G|RIMS1_ENST00000348717.5_Missense_Mutation_p.R930G|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.R931G|RIMS1_ENST00000520567.1_Missense_Mutation_p.R930G|RIMS1_ENST00000517827.1_Missense_Mutation_p.R390G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	931					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R931G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCTAGTGCTAGAGAAAGTAA	0.373																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2791-2793)AGA>GGA		regulating synaptic membrane exocytosis 1							78.0	73.0	75.0					6																	72967848		1921	4125	6046	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72967848A>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2791A>G	6.37:g.72967848A>G	ENSP00000428417:p.Arg931Gly					RIMS1_uc011dyb.1_Missense_Mutation_p.R556G|RIMS1_uc003pgc.2_Missense_Mutation_p.R557G|RIMS1_uc010kaq.2_Missense_Mutation_p.R404G|RIMS1_uc011dyc.1_Missense_Mutation_p.R405G|RIMS1_uc010kar.2_Missense_Mutation_p.R324G|RIMS1_uc011dyd.1_Missense_Mutation_p.R390G|RIMS1_uc003pgf.2_Missense_Mutation_p.R147G|RIMS1_uc003pgg.2_Missense_Mutation_p.R148G|RIMS1_uc003pgi.2_Missense_Mutation_p.R147G|RIMS1_uc003pgh.2_Missense_Mutation_p.R147G|RIMS1_uc003pgd.2_Missense_Mutation_p.R148G|RIMS1_uc003pge.2_Missense_Mutation_p.R148G|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R557G|RIMS1_uc010kas.1_Missense_Mutation_p.R390G	p.R931G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			17	2868	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	931					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2791A>G	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.700621|3.700621	0.68501|0.68501	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.24908|.	2.16;2.44;2.31;2.45;2.41;2.14;2.32;2.29;2.12;2.41;2.44;2.38;2.44;1.83|.	5.44|5.44	4.26|4.26	0.50523|0.50523	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.51278|.	0.1665|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P;B;D;P;D;D;D;D;D;D;D;D|.	0.89917|.	0.944;0.063;0.995;0.863;0.958;0.999;0.988;1.0;0.987;0.999;0.997;0.972|.	P;B;D;B;P;D;P;D;D;D;D;P|.	0.85130|.	0.776;0.026;0.989;0.428;0.735;0.997;0.519;0.997;0.942;0.997;0.989;0.724|.	T|.	0.51140|.	-0.8743|.	10|.	0.87932|.	D|.	0|.	-20.5057|-20.5057	12.5565|12.5565	0.56257|0.56257	0.8607:0.1393:0.0:0.0|0.8607:0.1393:0.0:0.0	.|.	390;405;931;390;404;930;183;931;930;184;931;931|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	G|W	931;931;931;930;931;930;931;930;931;930;930;931;404;405;324;324;390;156|504	ENSP00000430101:R931G;ENSP00000275037:R930G;ENSP00000264839:R931G;ENSP00000429959:R930G;ENSP00000430408:R931G;ENSP00000430502:R930G;ENSP00000430932:R930G;ENSP00000428417:R931G;ENSP00000385649:R404G;ENSP00000428328:R405G;ENSP00000411235:R324G;ENSP00000389503:R324G;ENSP00000428367:R390G;ENSP00000359448:R156G|.	ENSP00000264839:R931G|.	R|X	+|+	1|2	2|0	RIMS1|RIMS1	73024569|73024569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.826000|0.826000	0.46750|0.46750	6.006000|6.006000	0.70724|0.70724	0.882000|0.882000	0.36016|0.36016	0.477000|0.477000	0.44152|0.44152	AGA|TAG		PASS	0.373	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			14	27	14	27	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84865148	84865148	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:84865148C>A	ENST00000403245.3	-	22	2977	c.2863G>T	c.(2863-2865)Gat>Tat	p.D955Y	KIAA1009_ENST00000257766.4_Missense_Mutation_p.D879Y|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.D955Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCCACTGTATCACCAGCTGCT	0.373																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2863-2865)GAT>TAT		KIAA1009 protein							98.0	99.0	98.0					6																	84865148		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84865148C>A																												ENST00000403245.3:c.2863G>T	6.37:g.84865148C>A	ENSP00000385215:p.Asp955Tyr					KIAA1009_uc003pkj.3_Missense_Mutation_p.D879Y|KIAA1009_uc003pki.3_Missense_Mutation_p.D341Y	p.D955Y	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	22	2960	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	955			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.2863G>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918293	0.33908	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.22336	1.96;1.97	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000007	T	0.35219	0.0924	M	0.72479	2.2	0.34368	D	0.691762	D	0.89917	1.0	D	0.69479	0.964	T	0.16482	-1.0401	10	0.49607	T	0.09	-14.032	15.6671	0.77238	0.0:0.8532:0.1467:0.0	.	955	Q5TB80	QN1_HUMAN	Y	879;955	ENSP00000257766:D879Y;ENSP00000385215:D955Y	ENSP00000257766:D879Y	D	-	1	0	KIAA1009	84921867	0.996000	0.38824	0.994000	0.49952	0.155000	0.21991	2.735000	0.47377	2.556000	0.86216	0.655000	0.94253	GAT		PASS	0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			13	23	13	23	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105281021	105281021	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:105281021T>C	ENST00000262903.4	-	6	706	c.430A>G	c.(430-432)Aca>Gca	p.T144A	HACE1_ENST00000369125.2_Missense_Mutation_p.T144A|RP11-809N15.2_ENST00000422930.2_RNA	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	144					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.T144A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGTAGTTCTGTCCGCCCATTC	0.423																																						uc003pqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(430-432)ACA>GCA		HECT domain and ankyrin repeat containing, E3							176.0	142.0	153.0					6																	105281021		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105281021T>C	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.430A>G	6.37:g.105281021T>C	ENSP00000262903:p.Thr144Ala					HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.T144A	p.T144A	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	6	707	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	144			ANK 3.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.430A>G	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.120704	0.37436	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000524020	T;T;T	0.71222	-0.55;-0.55;1.58	5.09	5.09	0.68999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	N	0.25201	0.72	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	T	0.72896	-0.4153	10	0.51188	T	0.08	.	14.8688	0.70437	0.0:0.0:0.0:1.0	.	144;144	E9PGP0;Q8IYU2	.;HACE1_HUMAN	A	144;144;110	ENSP00000262903:T144A;ENSP00000358121:T144A;ENSP00000427901:T110A	ENSP00000262903:T144A	T	-	1	0	HACE1	105387714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.632000	0.83247	1.917000	0.55516	0.528000	0.53228	ACA		PASS	0.423	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		10	56	10	56	---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109175566	109175566	+	Silent	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:109175566A>G	ENST00000392644.4	+	2	264	c.96A>G	c.(94-96)gaA>gaG	p.E32E	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	32								p.E25E(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATAAGTGAAGCAAGAAATG	0.393																																						uc003pss.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)GAA>GAG		armadillo repeat containing 2							110.0	92.0	98.0					6																	109175566		2203	4300	6503	SO:0001819	synonymous_variant	84071						binding	g.chr6:109175566A>G	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.96A>G	6.37:g.109175566A>G						ARMC2_uc011eao.1_5'UTR	p.E32E	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	2	270	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	32					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	c.96A>G	CCDS5069.2																																																																																				PASS	0.393	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		41	60	41	60	---	---	---	---
CEP57L1	285753	broad.mit.edu	37	6	109415214	109415214	+	5'Flank	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:109415214C>A	ENST00000517392.1	+	0	0				CEP57L1_ENST00000368970.2_5'Flank|CEP57L1_ENST00000520883.1_5'Flank|CEP57L1_ENST00000519095.1_5'Flank|CEP57L1_ENST00000523787.1_5'Flank|CEP57L1_ENST00000407272.1_5'Flank|CEP57L1_ENST00000521277.1_5'Flank|SESN1_ENST00000436639.2_Missense_Mutation_p.R21S|CEP57L1_ENST00000521522.1_5'Flank|CEP57L1_ENST00000336977.4_5'Flank|SESN1_ENST00000517548.1_5'Flank|CEP57L1_ENST00000368968.2_5'Flank	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1						microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R21S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						ATGCTGTCTCCCTAGTAGTTG	0.443																																						uc003psu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)AGG>AGT		sestrin 1							196.0	177.0	184.0					6																	109415214		2203	4300	6503	SO:0001631	upstream_gene_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109415214C>A	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336		6.37:g.109415214C>A	Exception_encountered					C6orf182_uc003psv.3_5'Flank|C6orf182_uc003psw.3_5'Flank|C6orf182_uc010kdk.2_5'Flank|C6orf182_uc003psx.3_5'Flank|C6orf182_uc010kdl.2_5'Flank	p.R21S	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	1	74	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.63G>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121280	0.56613	.	.	ENSG00000080546	ENST00000436639	T	0.21932	1.98	5.93	-1.86	0.07760	.	0.486295	0.19987	N	0.101651	T	0.12008	0.0292	L	0.53249	1.67	0.80722	D	1	P	0.46912	0.886	P	0.45829	0.494	T	0.09422	-1.0675	10	0.49607	T	0.09	-5.6668	11.9444	0.52920	0.0:0.5089:0.0:0.4911	.	21	Q9Y6P5-2	.	S	21	ENSP00000393762:R21S	ENSP00000393762:R21S	R	-	3	2	SESN1	109521907	0.996000	0.38824	0.242000	0.24170	0.307000	0.27823	0.189000	0.17037	-0.294000	0.08973	-0.238000	0.12139	AGG		PASS	0.443	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		7	127	7	127	---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109769511	109769511	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:109769511G>T	ENST00000358807.3	-	13	2061	c.1750C>A	c.(1750-1752)Ccg>Acg	p.P584T	MICAL1_ENST00000358577.3_Missense_Mutation_p.P498T|MICAL1_ENST00000368952.4_Missense_Mutation_p.P603T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	584	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.P584T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GACACCACCGGTGTGATGCCC	0.607																																						uc003ptj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1750-1752)CCG>ACG		microtubule associated monoxygenase, calponin							173.0	162.0	165.0					6																	109769511		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769511G>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1750C>A	6.37:g.109769511G>T	ENSP00000351664:p.Pro584Thr					MICAL1_uc003ptk.2_Missense_Mutation_p.P584T|MICAL1_uc010kdr.2_Missense_Mutation_p.P498T|MICAL1_uc011eaq.1_Missense_Mutation_p.P603T	p.P584T	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	12	2004	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	584			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1750C>A	CCDS5076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.557183|4.557183	0.86231|0.86231	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957|ENST00000433205	T;T;T|D	0.60424|0.94966	0.19;0.19;0.19|-3.57	5.38|5.38	5.38|5.38	0.77491|0.77491	Calponin homology domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.93966|0.93966	0.8068|0.8068	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	D;D;D|.	0.91635|.	0.993;0.998;0.999|.	D|D	0.94387|0.94387	0.7610|0.7610	10|7	0.72032|0.56958	D|D	0.01|0.05	.|.	16.6283|16.6283	0.84992|0.84992	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	603;498;584|.	B7Z3R5;Q8TDZ2-2;Q8TDZ2|.	.;.;MICA1_HUMAN|.	T|N	584;603;498;108|145	ENSP00000351664:P584T;ENSP00000357948:P603T;ENSP00000351385:P498T|ENSP00000408924:T145N	ENSP00000351385:P498T|ENSP00000408924:T145N	P|T	-|-	1|2	0|0	MICAL1|MICAL1	109876204|109876204	1.000000|1.000000	0.71417|0.71417	0.710000|0.710000	0.30468|0.30468	0.878000|0.878000	0.50629|0.50629	7.367000|7.367000	0.79558|0.79558	2.529000|2.529000	0.85273|0.85273	0.561000|0.561000	0.74099|0.74099	CCG|ACC		PASS	0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		15	100	15	100	---	---	---	---
DDO	8528	broad.mit.edu	37	6	110736689	110736689	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:110736689C>A	ENST00000368924.3	-	1	76	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	DDO_ENST00000368923.3_Missense_Mutation_p.D21Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	0					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.D21Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AAAAAGCAGTCTTGGAAGCCA	0.507																																						uc003puc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(61-63)GAC>TAC		D-aspartate oxidase isoform a							123.0	103.0	110.0					6																	110736689		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110736689C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.61G>T	6.37:g.110736689C>A	ENSP00000357920:p.Asp21Tyr					DDO_uc003pud.2_Missense_Mutation_p.D21Y	p.D21Y	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	1	65	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	Error:Variant_position_missing_in_Q99489_after_alignment					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.61G>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547606	0.27652	.	.	ENSG00000203797	ENST00000368924;ENST00000368923	T;T	0.46819	0.87;0.86	4.69	1.89	0.25635	.	0.308092	0.22887	N	0.054431	T	0.23210	0.0561	.	.	.	0.22305	N	0.999216	P;P	0.42620	0.785;0.785	P;P	0.44946	0.465;0.465	T	0.10636	-1.0621	9	0.72032	D	0.01	-4.0E-4	3.8139	0.08808	0.1925:0.6103:0.0:0.1972	.	21;21	Q99489-4;Q99489-3	.;.	Y	21	ENSP00000357920:D21Y;ENSP00000357919:D21Y	ENSP00000357919:D21Y	D	-	1	0	DDO	110843382	0.004000	0.15560	0.023000	0.16930	0.906000	0.53458	0.031000	0.13710	0.430000	0.26230	0.655000	0.94253	GAC		PASS	0.507	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			16	36	16	36	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123318999	123318999	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:123318999C>A	ENST00000275162.5	+	2	1412	c.77C>A	c.(76-78)aCg>aAg	p.T26K	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	26					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.T26K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AACCCAGACACGCTGCACCAG	0.547																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(76-78)ACG>AAG		retinaldehyde binding protein 1-like 2							121.0	108.0	112.0					6																	123318999		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123318999C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.77C>A	6.37:g.123318999C>A	ENSP00000275162:p.Thr26Lys						p.T26K	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	946	+			26					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.77C>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602170	0.46423	.	.	ENSG00000146352	ENST00000275162	T	0.79653	-1.29	5.39	5.39	0.77823	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	L	0.41079	1.255	0.80722	D	1	D	0.54964	0.969	P	0.53450	0.726	T	0.70992	-0.4721	10	0.17832	T	0.49	6.9224	19.3486	0.94374	0.0:1.0:0.0:0.0	.	26	Q5SYC1	CLVS2_HUMAN	K	26	ENSP00000275162:T26K	ENSP00000275162:T26K	T	+	2	0	CLVS2	123360698	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	5.925000	0.70062	2.814000	0.96858	0.585000	0.79938	ACG		PASS	0.547	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		27	43	27	43	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134270	128134270	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:128134270C>A	ENST00000368248.2	-	4	1664	c.1516G>T	c.(1516-1518)Gtg>Ttg	p.V506L	THEMIS_ENST00000543064.1_Missense_Mutation_p.V506L|THEMIS_ENST00000368250.1_Missense_Mutation_p.V427L|THEMIS_ENST00000537166.1_Missense_Mutation_p.V471L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	506	CABIT 2.				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.V506L(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						AAGCGGCCCACAGGAATTTCC	0.478																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1516-1518)GTG>TTG		thymocyte selection pathway associated isoform							70.0	70.0	70.0					6																	128134270		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134270C>A	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.1516G>T	6.37:g.128134270C>A	ENSP00000357231:p.Val506Leu					THEMIS_uc010kfa.2_Missense_Mutation_p.V409L|THEMIS_uc011ebt.1_Missense_Mutation_p.V506L|THEMIS_uc010kfb.2_Missense_Mutation_p.V471L	p.V506L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1835	-			506			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1516G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	8.514	0.867117	0.17250	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.9	1.92	0.25849	.	0.288406	0.32028	N	0.006697	T	0.05181	0.0138	M	0.69823	2.125	0.09310	N	1	B;B	0.28350	0.208;0.008	B;B	0.29598	0.104;0.009	T	0.36261	-0.9755	10	0.31617	T	0.26	-2.6099	6.3982	0.21624	0.0:0.5917:0.1206:0.2877	.	506;506	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	427;506;506;471	ENSP00000357233:V427L;ENSP00000439594:V506L;ENSP00000357231:V506L;ENSP00000439863:V471L	ENSP00000357231:V506L	V	-	1	0	THEMIS	128175963	0.049000	0.20398	0.021000	0.16686	0.972000	0.66771	0.990000	0.29642	0.050000	0.15949	0.563000	0.77884	GTG		PASS	0.478	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		20	38	20	38	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146673571	146673571	+	Missense_Mutation	SNP	T	T	A	rs151255685		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:146673571T>A	ENST00000282753.1	+	4	1607	c.1372T>A	c.(1372-1374)Tca>Aca	p.S458T	GRM1_ENST00000392299.2_Missense_Mutation_p.S458T|GRM1_ENST00000361719.2_Missense_Mutation_p.S458T|GRM1_ENST00000355289.4_Missense_Mutation_p.S458T|GRM1_ENST00000492807.2_Missense_Mutation_p.S458T|GRM1_ENST00000507907.1_Missense_Mutation_p.S458T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	458					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.S458T(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CATCAAGTCCTCATTCATTGG	0.522																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1372-1374)TCA>ACA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						198.0	197.0	197.0					6																	146673571		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146673571T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1372T>A	6.37:g.146673571T>A	ENSP00000282753:p.Ser458Thr					GRM1_uc010khv.1_Missense_Mutation_p.S458T|GRM1_uc003qll.2_Missense_Mutation_p.S458T|GRM1_uc011edz.1_Missense_Mutation_p.S458T|GRM1_uc011eea.1_Missense_Mutation_p.S458T	p.S458T	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	5	1842	+		Ovarian(120;0.0387)	458			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1372T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100828	0.37048	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.84	4.67	0.58626	Extracellular ligand-binding receptor (1);	0.226724	0.45867	N	0.000335	T	0.64294	0.2585	N	0.20445	0.575	0.47441	D	0.999428	B;B;B	0.16603	0.002;0.018;0.0	B;B;B	0.22152	0.007;0.038;0.005	T	0.59669	-0.7411	10	0.23302	T	0.38	.	10.197	0.43060	0.3467:0.0:0.0:0.6532	.	458;458;458	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	T	458	ENSP00000354896:S458T;ENSP00000376119:S458T;ENSP00000424095:S458T;ENSP00000282753:S458T;ENSP00000347437:S458T;ENSP00000425599:S458T	ENSP00000282753:S458T	S	+	1	0	GRM1	146715264	0.962000	0.33011	0.992000	0.48379	0.826000	0.46750	1.365000	0.34182	1.042000	0.40150	0.533000	0.62120	TCA		PASS	0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		15	144	15	144	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151859208	151859208	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:151859208C>T	ENST00000239374.7	+	3	314	c.215C>T	c.(214-216)tCt>tTt	p.S72F	CCDC170_ENST00000367290.5_Missense_Mutation_p.S72F|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	72								p.S72F(1)									AAGATGCTTTCTAAAGAAGTC	0.353																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)TCT>TTT		hypothetical protein LOC80129							63.0	58.0	60.0					6																	151859208		1812	4090	5902	SO:0001583	missense	80129							g.chr6:151859208C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.215C>T	6.37:g.151859208C>T	ENSP00000239374:p.Ser72Phe						p.S72F	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	3	304	+		Ovarian(120;0.126)	72			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.215C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151889	0.78001	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.11277	2.8;2.79	5.53	5.53	0.82687	.	0.062950	0.64402	D	0.000004	T	0.28797	0.0714	M	0.77820	2.39	0.58432	D	0.999996	D	0.71674	0.998	D	0.71184	0.972	T	0.03403	-1.1040	10	0.72032	D	0.01	-0.2845	19.4538	0.94878	0.0:1.0:0.0:0.0	.	72	Q8IYT3	CF097_HUMAN	F	72	ENSP00000239374:S72F;ENSP00000356259:S72F	ENSP00000239374:S72F	S	+	2	0	C6orf97	151900901	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	4.596000	0.61055	2.604000	0.88044	0.650000	0.86243	TCT		PASS	0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		31	48	31	48	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152949431	152949431	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:152949431C>A	ENST00000367255.5	-	3	637	c.36G>T	c.(34-36)cgG>cgT	p.R12R	SYNE1_ENST00000413186.2_Silent_p.R12R|SYNE1_ENST00000341594.5_Silent_p.R12R|SYNE1_ENST00000367248.3_Silent_p.R12R|SYNE1_ENST00000423061.1_Silent_p.R12R|SYNE1_ENST00000265368.4_Silent_p.R12R|SYNE1_ENST00000367253.4_Silent_p.R12R|SYNE1_ENST00000448038.1_Silent_p.R12R|SYNE1_ENST00000466159.2_Silent_p.R12R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	12	Actin-binding.				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.R12R(3)		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)		TGGCGATATCCCGAGGACACC	0.502										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(34-36)CGG>CGT		spectrin repeat containing, nuclear envelope 1							98.0	103.0	101.0					6																	152949431		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152949431C>A	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.36G>T	6.37:g.152949431C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.R12R|SYNE1_uc003qou.3_Silent_p.R12R|SYNE1_uc010kjb.1_Silent_p.R12R|SYNE1_uc003qpa.1_Silent_p.R12R	p.R12R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	3	638	-		Ovarian(120;0.0955)	12			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.36G>T	CCDS5236.2																																																																																				PASS	0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	52	17	52	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157521975	157521975	+	Missense_Mutation	SNP	G	G	T	rs144424476		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:157521975G>T	ENST00000350026.5	+	17	4209	c.4208G>T	c.(4207-4209)cGc>cTc	p.R1403L	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1456L|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1416L|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1398L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1403					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1416L(1)|p.R1398L(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCCGGACCGCAGGCCCATC	0.632																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(4192-4194)CGC>CTC		AT rich interactive domain 1B (SWI1-like)							38.0	44.0	42.0					6																	157521975		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521975G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4208G>T	6.37:g.157521975G>T	ENSP00000055163:p.Arg1403Leu					ARID1B_uc003qqo.2_Missense_Mutation_p.R1358L|ARID1B_uc003qqp.2_Missense_Mutation_p.R1345L	p.R1398L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4345	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1403					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4193G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227459	0.39399	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02446	4.59;4.59;4.59;4.6;4.29	4.88	4.88	0.63580	.	0.050475	0.64402	D	0.000002	T	0.06142	0.0159	L	0.61218	1.895	0.58432	D	0.99999	P;D;D	0.55800	0.954;0.973;0.973	P;P;P	0.54499	0.573;0.754;0.754	T	0.19192	-1.0313	10	0.72032	D	0.01	.	18.414	0.90562	0.0:0.0:1.0:0.0	.	1403;1416;1398	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	L	1416;1403;1456;1398;925	ENSP00000344546:R1416L;ENSP00000055163:R1403L;ENSP00000356116:R1456L;ENSP00000275248:R1398L;ENSP00000412835:R925L	ENSP00000275248:R1398L	R	+	2	0	ARID1B	157563667	1.000000	0.71417	0.192000	0.23308	0.504000	0.33889	7.585000	0.82584	2.413000	0.81919	0.655000	0.94253	CGC		PASS	0.632	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	18	6	18	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158914661	158914661	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:158914661C>A	ENST00000367097.3	+	10	3045	c.1688C>A	c.(1687-1689)tCc>tAc	p.S563Y	TULP4_ENST00000367094.2_Missense_Mutation_p.S563Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	563					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S563Y(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGGAGCTCTCCCGGTCCCCA	0.657																																						uc003qrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1687-1689)TCC>TAC		tubby like protein 4 isoform 1							44.0	48.0	47.0					6																	158914661		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158914661C>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1688C>A	6.37:g.158914661C>A	ENSP00000356064:p.Ser563Tyr					TULP4_uc003qrg.2_Missense_Mutation_p.S563Y	p.S563Y	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	10	3045	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	563					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1688C>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659487	0.88154	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62639	0.01;0.83	4.87	4.87	0.63330	Tubby, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.36672	1.1	0.80722	D	1	P;D	0.58620	0.731;0.983	B;P	0.52909	0.444;0.713	T	0.62072	-0.6931	10	0.56958	D	0.05	-27.2391	18.0134	0.89231	0.0:1.0:0.0:0.0	.	563;563	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	Y	563	ENSP00000356064:S563Y;ENSP00000356061:S563Y	ENSP00000356061:S563Y	S	+	2	0	TULP4	158834649	1.000000	0.71417	0.715000	0.30552	0.778000	0.44026	5.550000	0.67268	2.255000	0.74692	0.563000	0.77884	TCC		PASS	0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		4	29	4	29	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161006101	161006101	+	Missense_Mutation	SNP	C	C	G	rs372776354		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:161006101C>G	ENST00000316300.5	-	26	4310	c.4266G>C	c.(4264-4266)agG>agC	p.R1422S	LPA_ENST00000447678.1_Missense_Mutation_p.R1422S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3930	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1422S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAATGGGATCCTCCGATGCC	0.443																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4264-4266)AGG>AGC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)	C	SER/ARG	0,4332		0,0,2166	210.0	207.0	208.0		4266	2.6	0.1	6		208	1,8585	1.2+/-3.3	0,1,4292	no	missense	LPA	NM_005577.2	110	0,1,6458	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	1422/2041	161006101	1,12917	2166	4293	6459	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161006101C>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4266G>C	6.37:g.161006101C>G	ENSP00000321334:p.Arg1422Ser						p.R1422S	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	27	4386	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3930			Kringle 35.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4266G>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	6.521	0.464290	0.12402	0.0	1.16E-4	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62498	0.02;0.02	2.56	2.56	0.30785	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.62171	0.2406	M	0.65677	2.01	0.19945	N	0.999946	D	0.71674	0.998	D	0.81914	0.995	T	0.46952	-0.9154	9	0.32370	T	0.25	.	8.6141	0.33820	0.0:1.0:0.0:0.0	.	3930	P08519	APOA_HUMAN	S	1422	ENSP00000321334:R1422S;ENSP00000395608:R1422S	ENSP00000321334:R1422S	R	-	3	2	LPA	160926091	0.834000	0.29399	0.142000	0.22268	0.009000	0.06853	1.233000	0.32648	1.415000	0.47037	0.436000	0.28706	AGG		PASS	0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		38	91	38	91	---	---	---	---
ERMARD	55780	broad.mit.edu	37	6	170169666	170169666	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr6:170169666G>C	ENST00000366773.3	+	12	1123	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ERMARD_ENST00000418781.3_Missense_Mutation_p.E364Q|RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000366772.2_Missense_Mutation_p.E364Q|ERMARD_ENST00000588451.1_Missense_Mutation_p.E228Q|ERMARD_ENST00000392095.4_Missense_Mutation_p.E238Q	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	364					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E364Q(1)									GAACCATCAGGAGGGTCCCCG	0.403																																						uc003qxg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1090-1092)GAG>CAG		hypothetical protein LOC55780							47.0	46.0	46.0					6																	170169666		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170169666G>C	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1090G>C	6.37:g.170169666G>C	ENSP00000355735:p.Glu364Gln					C6orf70_uc011ehb.1_Missense_Mutation_p.E238Q|C6orf70_uc003qxh.1_Missense_Mutation_p.E364Q|C6orf70_uc010kky.1_Missense_Mutation_p.E238Q|C6orf70_uc003qxi.1_Missense_Mutation_p.E12Q	p.E364Q	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	12	1123	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	364					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1090G>C	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	18.18	3.567093	0.65651	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.54675	0.6;0.56	5.34	3.57	0.40892	.	0.093462	0.46145	D	0.000306	T	0.60996	0.2312	M	0.81942	2.565	0.25684	N	0.985766	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.85130	0.892;0.997;0.996	T	0.58940	-0.7547	10	0.66056	D	0.02	.	11.5202	0.50546	0.147:0.0:0.853:0.0	.	364;364;364	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	Q	364;364;364;238;12	ENSP00000355735:E364Q;ENSP00000375945:E238Q	ENSP00000355733:E12Q	E	+	1	0	C6orf70	169911591	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.305000	0.59110	0.657000	0.30906	-0.162000	0.13425	GAG		PASS	0.403	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		7	20	7	20	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4089005	4089005	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:4089005G>T	ENST00000404826.2	+	18	2767	c.2628G>T	c.(2626-2628)gtG>gtT	p.V876V	SDK1_ENST00000389531.3_Silent_p.V876V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	876	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V876V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCAGAACGTGCAGACGGAAG	0.572																																						uc003smx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(2626-2628)GTG>GTT		sidekick 1 precursor							78.0	68.0	71.0					7																	4089005		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4089005G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2628G>T	7.37:g.4089005G>T						SDK1_uc010kso.2_Silent_p.V152V	p.V876V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2767	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	876			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2628G>T	CCDS34590.1																																																																																				PASS	0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		8	29	8	29	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7410440	7410440	+	Silent	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:7410440T>C	ENST00000399429.3	-	33	3122	c.2982A>G	c.(2980-2982)tcA>tcG	p.S994S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	994					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S994S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GAGGTGACGATGAACCAAAAA	0.368																																						uc003src.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(2980-2982)TCA>TCG		collagen, type XXVIII precursor							108.0	96.0	100.0					7																	7410440		1824	4086	5910	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7410440T>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2982A>G	7.37:g.7410440T>C						COL28A1_uc011jxe.1_Silent_p.S677S	p.S994S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	33	3099	-		Ovarian(82;0.0789)	994					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2982A>G	CCDS43553.1																																																																																				PASS	0.368	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		23	39	23	39	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8099836	8099836	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:8099836G>A	ENST00000223145.5	+	5	1481	c.924G>A	c.(922-924)aaG>aaA	p.K308K	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	308						cytoplasm (GO:0005737)		p.K308K(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AATTAGAAAAGGTATTCATTA	0.368																																						uc003srk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(922-924)AAG>AAA		glucocorticoid induced transcript 1							105.0	100.0	102.0					7																	8099836		2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8099836G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.924G>A	7.37:g.8099836G>A							p.K308K	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	5	1483	+		Ovarian(82;0.0608)	308					A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.924G>A	CCDS34601.1																																																																																				PASS	0.368	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		17	43	17	43	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20762813	20762813	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:20762813G>A	ENST00000404938.2	+	21	3248	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D421N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	866	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.D421N(1)|p.D866N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGCCAACAAAGATAAGCAAGA	0.378																																						uc003suw.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1261-1263)GAT>AAT		ATP-binding cassette, sub-family B, member 5							104.0	98.0	100.0					7																	20762813		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20762813G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2596G>A	7.37:g.20762813G>A	ENSP00000384881:p.Asp866Asn					ABCB5_uc010kuh.2_Missense_Mutation_p.D866N|ABCB5_uc003sux.1_Missense_Mutation_p.D44N	p.D421N	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			12	1807	+			421			Cytoplasmic (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1261G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283094	0.80803	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.89485	-2.52;-2.52	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000010	D	0.93187	0.7830	M	0.62154	1.92	0.49582	D	0.999809	D;P;D	0.76494	0.965;0.953;0.999	D;P;D	0.83275	0.951;0.782;0.996	D	0.93159	0.6556	10	0.56958	D	0.05	.	15.8674	0.79074	0.0:0.0:1.0:0.0	.	866;44;421	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	N	866;421	ENSP00000384881:D866N;ENSP00000258738:D421N	ENSP00000258738:D421N	D	+	1	0	ABCB5	20729338	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.944000	0.63561	2.692000	0.91855	0.655000	0.94253	GAT		PASS	0.378	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		15	33	15	33	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21727028	21727028	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:21727028T>A	ENST00000409508.3	+	34	5838	c.5807T>A	c.(5806-5808)gTg>gAg	p.V1936E	DNAH11_ENST00000328843.6_Missense_Mutation_p.V1943E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1943	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1943E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGGGATTGGTGCAGACAGGA	0.408									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5827-5829)GTG>GAG		dynein, axonemal, heavy chain 11							82.0	86.0	85.0					7																	21727028		2194	4299	6493	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21727028T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5807T>A	7.37:g.21727028T>A	ENSP00000475939:p.Val1936Glu						p.V1943E	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			35	5859	+			1943			AAA 1 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5828T>A		.	.	.	.	.	.	.	.	.	.	T	16.70	3.196809	0.58126	.	.	ENSG00000105877	ENST00000328843	T	0.47177	0.85	5.75	4.61	0.57282	ATPase, AAA+ type, core (1);	0.126758	0.52532	D	0.000062	T	0.52500	0.1738	.	.	.	0.43408	D	0.995543	P	0.51653	0.947	P	0.51582	0.674	T	0.57323	-0.7831	9	0.87932	D	0	.	8.2989	0.32001	0.0:0.1495:0.0:0.8505	.	1943	Q96DT5	DYH11_HUMAN	E	1943	ENSP00000330671:V1943E	ENSP00000330671:V1943E	V	+	2	0	DNAH11	21693553	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	2.196000	0.70406	0.533000	0.62120	GTG		PASS	0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		25	31	25	31	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28848907	28848907	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:28848907G>A	ENST00000357727.2	+	9	1520	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	CREB5_ENST00000396298.2_Missense_Mutation_p.R238K|CREB5_ENST00000409603.1_Missense_Mutation_p.R344K|CREB5_ENST00000396300.2_Missense_Mutation_p.R370K|CREB5_ENST00000396299.2_Missense_Mutation_p.R344K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	377	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R238K(1)|p.R377K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CCGGACGAGAGGCGGCGGAAA	0.592																																						uc003szq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1129-1131)AGG>AAG		cAMP responsive element binding protein 5							57.0	61.0	60.0					7																	28848907		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28848907G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1130G>A	7.37:g.28848907G>A	ENSP00000350359:p.Arg377Lys					CREB5_uc003szo.2_Missense_Mutation_p.R344K|CREB5_uc003szr.2_Missense_Mutation_p.R370K|CREB5_uc003szs.2_Missense_Mutation_p.R238K	p.R377K	NM_182898	NP_878901	Q02930	CREB5_HUMAN			9	1520	+			377			Basic motif.		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1130G>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465827	0.96257	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	N	0.05259	-0.085	0.58432	D	0.999999	D;D	0.57257	0.979;0.979	D;D	0.74023	0.973;0.982	T	0.10064	-1.0646	10	0.02654	T	1	-18.0203	20.4777	0.99188	0.0:0.0:1.0:0.0	.	238;377	B4DU13;Q02930	.;CREB5_HUMAN	K	344;377;370;344;203;238	ENSP00000379593:R344K;ENSP00000350359:R377K;ENSP00000379594:R370K;ENSP00000387197:R344K;ENSP00000379592:R238K	ENSP00000350359:R377K	R	+	2	0	CREB5	28815432	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	AGG		PASS	0.592	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		24	30	24	30	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31592800	31592800	+	Splice_Site	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:31592800G>T	ENST00000407970.3	+	2	200	c.162G>T	c.(160-162)ctG>ctT	p.L54L	CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000451887.2_Splice_Site_p.L80L|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000319386.3_Splice_Site_p.L54L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	54								p.L54L(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCCCATGCTGGGTGAGAAGG	0.552																																						uc003tcj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(160-162)CTG>CTT		coiled-coil domain containing 129							44.0	35.0	38.0					7																	31592800		2202	4298	6500	SO:0001630	splice_region_variant	223075							g.chr7:31592800G>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.163+1G>T	7.37:g.31592800G>T						CCDC129_uc011kad.1_Silent_p.L64L|CCDC129_uc003tci.1_Silent_p.L53L|CCDC129_uc011kae.1_Silent_p.L80L|CCDC129_uc003tck.1_5'Flank	p.L54L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			2	1155	+			54					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.162G>T	CCDS5435.2																																																																																				PASS	0.552	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	Silent	9	14	9	14	---	---	---	---
ZPBP	11055	broad.mit.edu	37	7	50057886	50057886	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:50057886G>T	ENST00000046087.2	-	6	802	c.733C>A	c.(733-735)Ccc>Acc	p.P245T	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.P244T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	245					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.P245T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CATCGCTTGGGTCCTTTTTCA	0.299																																						uc003tou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CCC>ACC		zona pellucida binding protein isoform 1							94.0	92.0	93.0					7																	50057886		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50057886G>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.733C>A	7.37:g.50057886G>T	ENSP00000046087:p.Pro245Thr					ZPBP_uc011kci.1_Missense_Mutation_p.P171T|ZPBP_uc010kyw.2_Missense_Mutation_p.P244T	p.P245T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			6	803	-	Glioma(55;0.08)|all_neural(89;0.245)		245					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.733C>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	9.586	1.124965	0.20959	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.50277	0.75;0.75	4.1	0.0609	0.14338	.	1.083580	0.07123	N	0.844173	T	0.31827	0.0809	L	0.27053	0.805	0.22001	N	0.999426	B;B	0.14438	0.01;0.01	B;B	0.18561	0.022;0.022	T	0.24799	-1.0150	9	.	.	.	-0.1847	6.2168	0.20659	0.5122:0.0:0.4878:0.0	.	244;245	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	T	245;244	ENSP00000046087:P245T;ENSP00000402071:P244T	.	P	-	1	0	ZPBP	50028432	0.979000	0.34478	0.989000	0.46669	0.966000	0.64601	-0.238000	0.08977	-0.004000	0.14419	0.637000	0.83480	CCC		PASS	0.299	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		8	20	8	20	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	78150946	78150946	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:78150946G>T	ENST00000354212.4	-	4	808	c.555C>A	c.(553-555)acC>acA	p.T185T	MAGI2_ENST00000522391.1_Silent_p.T185T|MAGI2_ENST00000535697.1_Silent_p.T22T|MAGI2_ENST00000419488.1_Silent_p.T185T|MAGI2_ENST00000536571.1_Silent_p.T17T|MAGI2_ENST00000517762.1_5'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	185	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.T185T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCGGCTTTGGGGTACCGTAGT	0.383																																						uc003ugx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(553-555)ACC>ACA		membrane associated guanylate kinase, WW and PDZ							161.0	167.0	165.0					7																	78150946		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78150946G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.555C>A	7.37:g.78150946G>T						MAGI2_uc003ugy.2_Silent_p.T185T|MAGI2_uc011kgr.1_Silent_p.T17T|MAGI2_uc011kgs.1_Silent_p.T22T	p.T185T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			4	809	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	185			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.555C>A	CCDS5594.1																																																																																				PASS	0.383	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		8	143	8	143	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99917383	99917383	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:99917383C>T	ENST00000332397.6	+	9	1726	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	SPDYE3_ENST00000437326.2_Silent_p.F137F	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	514								p.F514F(2)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TCCAGTTCTTCTGTTCCATGC	0.607																																						uc003uug.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(409-411)TTC>TTT		speedy homolog E3							83.0	91.0	88.0					7																	99917383		2203	4300	6503	SO:0001819	synonymous_variant	441272							g.chr7:99917383C>T	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1542C>T	7.37:g.99917383C>T						uc011kjm.1_5'Flank	p.F137F	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN			4	651	+			514					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.411C>T	CCDS47658.2																																																																																				PASS	0.607	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		86	46	86	46	---	---	---	---
PILRA	29992	broad.mit.edu	37	7	99971747	99971747	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:99971747G>T	ENST00000198536.2	+	2	357	c.145G>T	c.(145-147)Gtg>Ttg	p.V49L	PILRA_ENST00000453419.1_Missense_Mutation_p.V49L|PILRA_ENST00000394000.2_Missense_Mutation_p.V49L|PILRA_ENST00000350573.2_Missense_Mutation_p.V49L|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	49	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V49L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTGGCTCTGTGGAAATCCC	0.557																																						uc003uuo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)GTG>TTG		paired immunoglobulin-like type 2 receptor alpha							57.0	64.0	62.0					7																	99971747		2202	4298	6500	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971747G>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.145G>T	7.37:g.99971747G>T	ENSP00000198536:p.Val49Leu					PILRA_uc011kjn.1_Missense_Mutation_p.V49L|PILRA_uc011kjo.1_Missense_Mutation_p.V49L|PILRA_uc003uup.1_Missense_Mutation_p.V49L|PILRA_uc003uuq.1_Missense_Mutation_p.V49L	p.V49L	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			2	357	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		49			Extracellular (Potential).|Ig-like V-type.		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.145G>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642951	0.29246	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	3.28	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.157530	0.06666	N	0.765280	T	0.58308	0.2113	L	0.34521	1.04	0.09310	N	1	P;P;P;P;B	0.48162	0.906;0.767;0.725;0.663;0.163	P;B;B;B;B	0.45610	0.487;0.34;0.23;0.206;0.097	T	0.56318	-0.7999	9	.	.	.	.	7.4318	0.27132	0.2371:0.157:0.6059:0.0	.	49;49;49;49;49	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	L	49	ENSP00000415111:V49L;ENSP00000198536:V49L;ENSP00000390026:V49L;ENSP00000377569:V49L;ENSP00000340109:V49L	.	V	+	1	0	PILRA	99809683	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.582000	0.05814	-1.305000	0.02327	0.313000	0.20887	GTG		PASS	0.557	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		6	44	6	44	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122111562	122111562	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:122111562C>A	ENST00000449022.2	-	14	2072	c.2053G>T	c.(2053-2055)Ggt>Tgt	p.G685C	CADPS2_ENST00000334010.7_Missense_Mutation_p.G686C|CADPS2_ENST00000412584.2_Missense_Mutation_p.G682C|CADPS2_ENST00000313070.7_Missense_Mutation_p.G682C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	685					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.G685C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCTCTCACACCATAACGGGCA	0.418																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2053-2055)GGT>TGT		Ca2+-dependent activator protein for secretion 2							66.0	68.0	67.0					7																	122111562		1955	4168	6123	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111562C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2053G>T	7.37:g.122111562C>A	ENSP00000398481:p.Gly685Cys					CADPS2_uc011knx.1_Missense_Mutation_p.G56C|CADPS2_uc003vkg.3_Missense_Mutation_p.G382C|CADPS2_uc010lkq.2_Missense_Mutation_p.G682C	p.G685C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			13	2216	-			685					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2053G>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.957134|4.957134	0.92726|0.92726	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77025|0.77025	0.4070|0.4070	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.999;1.0;1.0|.	T|T	0.74140|0.74140	-0.3761|-0.3761	10|5	0.66056|.	D|.	0.02|.	-16.5367|-16.5367	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	685;682;685;682|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	C|L	682;686;686;649;682;685|330	ENSP00000325581:G682C;ENSP00000333940:G686C;ENSP00000400401:G682C;ENSP00000398481:G685C|.	ENSP00000325581:G682C|.	G|W	-|-	1|2	0|0	CADPS2|CADPS2	121898798|121898798	1.000000|1.000000	0.71417|0.71417	0.876000|0.876000	0.34364|0.34364	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|TGG		PASS	0.418	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		4	23	4	23	---	---	---	---
AGK	55750	broad.mit.edu	37	7	141315303	141315303	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:141315303C>T	ENST00000355413.4	+	8	716	c.456C>T	c.(454-456)atC>atT	p.I152I	AGK_ENST00000535825.1_Silent_p.I149I|AGK_ENST00000473247.1_Silent_p.I124I	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	152	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.I152I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTGGATTTATCCCACTGGGAG	0.438																																						uc003vwi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(454-456)ATC>ATT		acylglycerol kinase precursor							180.0	183.0	182.0					7																	141315303		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315303C>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.456C>T	7.37:g.141315303C>T						AGK_uc011krg.1_RNA	p.I152I	NM_018238	NP_060708	Q53H12	AGK_HUMAN			8	627	+	Melanoma(164;0.0171)		152			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.456C>T	CCDS5865.1																																																																																				PASS	0.438	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		38	39	38	39	---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143421745	143421745	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:143421745C>T	ENST00000441159.2	+	7	2526	c.2460C>T	c.(2458-2460)ccC>ccT	p.P820P	FAM115C_ENST00000357344.4_Silent_p.P820P|FAM115C_ENST00000409703.3_Silent_p.P716P|FAM115C_ENST00000444908.2_Silent_p.P820P|FAM115C_ENST00000425618.2_Silent_p.P539P|FAM115C_ENST00000411497.2_Silent_p.P539P|FAM115C_ENST00000411935.1_Silent_p.P716P			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	820	Peptidase M60.				hematopoietic progenitor cell differentiation (GO:0002244)			p.P820P(1)		endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AGGGAGCCCCCCTGTGTGACT	0.572																																						uc003wdf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2458-2460)CCC>CCT		hypothetical protein LOC285966 isoform A							10.0	10.0	10.0					7																	143421745		1535	3209	4744	SO:0001819	synonymous_variant	285966							g.chr7:143421745C>T	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.2460C>T	7.37:g.143421745C>T						FAM115C_uc003wdg.2_Silent_p.P539P|FAM115C_uc011ktk.1_Silent_p.P820P|FAM115C_uc003wdh.2_Silent_p.P820P|FAM115C_uc011ktm.1_Silent_p.P820P|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Silent_p.P716P|FAM115C_uc003wdi.1_Silent_p.P539P	p.P820P	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN			7	2543	+			820					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Silent	SNP	ENST00000441159.2	37	c.2460C>T		.	.	.	.	.	.	.	.	.	.	c	0.012	-1.664174	0.00765	.	.	ENSG00000170379	ENST00000518791	.	.	.	4.23	0.131	0.14755	.	0.331716	0.32120	N	0.006557	T	0.30634	0.0771	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20273	-1.0280	6	0.29301	T	0.29	-26.2556	6.5725	0.22547	0.0:0.5533:0.1243:0.3224	.	.	.	.	S	635	.	ENSP00000431079:P635S	P	+	1	0	FAM115C	143052678	0.000000	0.05858	0.100000	0.21137	0.015000	0.08874	-3.980000	0.00321	-0.512000	0.06505	-1.465000	0.01017	CCT		PASS	0.572	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		4	11	4	11	---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149545452	149545452	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:149545452C>T	ENST00000223210.4	+	4	1115	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.I290I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAAAAGAAATCACTGATGGCA	0.403																																						uc010lpn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(868-870)ATC>ATT		zinc finger protein 862							11.0	12.0	12.0					7																	149545452		1863	4086	5949	SO:0001819	synonymous_variant	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545452C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.870C>T	7.37:g.149545452C>T						ZNF862_uc003wgm.2_RNA	p.I290I	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			4	1062	+			290					A0AUL8	Silent	SNP	ENST00000223210.4	37	c.870C>T	CCDS47741.1																																																																																				PASS	0.403	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		6	6	6	6	---	---	---	---
NEIL2	252969	broad.mit.edu	37	8	11640745	11640745	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:11640745G>T	ENST00000284503.6	+	4	1124	c.525G>T	c.(523-525)ctG>ctT	p.L175L	NEIL2_ENST00000436750.3_Silent_p.L175L|NEIL2_ENST00000455213.2_Silent_p.L175L|NEIL2_ENST00000403422.3_Silent_p.L114L|NEIL2_ENST00000528323.1_Silent_p.L59L	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	175					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)	p.L175L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTGGCTTCCTGGCATTTTATA	0.498								Base excision repair (BER), DNA glycosylases																														uc003wug.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)CTG>CTT	BER_DNA_glycosylases	nei like 2 isoform a							290.0	252.0	265.0					8																	11640745		2203	4300	6503	SO:0001819	synonymous_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11640745G>T	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.525G>T	8.37:g.11640745G>T						NEIL2_uc003wue.2_Silent_p.L175L|NEIL2_uc003wuf.2_Silent_p.L114L|NEIL2_uc011kxd.1_Silent_p.L59L	p.L175L	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	4	1200	+	all_epithelial(15;0.103)		175					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	c.525G>T	CCDS5984.1																																																																																				PASS	0.498	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		18	13	18	13	---	---	---	---
FBXO16	157574	broad.mit.edu	37	8	28309902	28309902	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:28309902C>A	ENST00000380254.2	-	6	747	c.599G>T	c.(598-600)cGg>cTg	p.R200L	FBXO16_ENST00000517436.1_Intron|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Missense_Mutation_p.R188L|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.R188L	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	200								p.R200L(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GGAAGAGGACCGAAAAGCTGA	0.423																																						uc003xgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)CGG>CTG		F-box only protein 16							85.0	89.0	88.0					8																	28309902		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28309902C>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.599G>T	8.37:g.28309902C>A	ENSP00000369604:p.Arg200Leu					ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R187L|FBXO16_uc003xgw.2_Missense_Mutation_p.R187L	p.R200L	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	6	697	-		Ovarian(32;2.06e-05)	200					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.599G>T	CCDS6068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.322|7.322	0.617101|0.617101	0.14129|0.14129	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000518248|ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	.|T;T;T;T	.|0.46063	.|2.4;2.38;2.4;0.88	5.49|5.49	1.17|1.17	0.20885|0.20885	.|.	.|1.311970	.|0.05260	.|U	.|0.515643	T|T	0.32912|0.32912	0.0845|0.0845	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.40794	.|0.526;0.729;0.566	.|B;B;B	.|0.28991	.|0.071;0.071;0.097	T|T	0.34279|0.34279	-0.9835|-0.9835	5|10	.|0.66056	.|D	.|0.02	-10.5698|-10.5698	8.4434|8.4434	0.32828|0.32828	0.0:0.5638:0.0:0.4362|0.0:0.5638:0.0:0.4362	.|.	.|188;188;200	.|Q3T1B3;Q3T1B2;Q8IX29	.|.;.;FBX16_HUMAN	C|L	45|200;188;188;145	.|ENSP00000369604:R200L;ENSP00000341416:R188L;ENSP00000429687:R188L;ENSP00000429390:R145L	.|ENSP00000341416:R188L	G|R	-|-	1|2	0|0	FBXO16|FBXO16	28365821|28365821	0.000000|0.000000	0.05858|0.05858	0.074000|0.074000	0.20217|0.20217	0.104000|0.104000	0.19210|0.19210	-0.300000|-0.300000	0.08243|0.08243	0.290000|0.290000	0.22444|0.22444	-0.948000|-0.948000	0.02665|0.02665	GGT|CGG		PASS	0.423	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		13	16	13	16	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618799	77618799	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:77618799G>T	ENST00000521891.2	+	2	2924	c.2476G>T	c.(2476-2478)Gcc>Tcc	p.A826S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A826S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A826S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A826S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	826					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A826S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTACTACCTAGCCCAGAACAT	0.527										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2476-2478)GCC>TCC		zinc finger homeodomain 4							18.0	18.0	18.0					8																	77618799		1989	4166	6155	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618799G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2476G>T	8.37:g.77618799G>T	ENSP00000430497:p.Ala826Ser	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.A826S|ZFHX4_uc003yau.1_Missense_Mutation_p.A826S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A826S	p.A826S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2863	+			826					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2476G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804301	0.50315	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53640	0.66;0.65;0.62;0.61	4.91	4.91	0.64330	.	0.000000	0.42821	U	0.000645	T	0.65964	0.2742	L	0.58810	1.83	0.80722	D	1	D;D;D;P	0.67145	0.993;0.996;0.996;0.699	D;D;D;B	0.77557	0.978;0.99;0.99;0.316	T	0.64647	-0.6358	10	0.45353	T	0.12	.	18.6385	0.91386	0.0:0.0:1.0:0.0	.	826;826;826;826	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	826	ENSP00000430497:A826S;ENSP00000399605:A826S;ENSP00000050961:A826S;ENSP00000430848:A826S	ENSP00000050961:A826S	A	+	1	0	ZFHX4	77781354	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.708000	0.84633	2.699000	0.92147	0.585000	0.79938	GCC		PASS	0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	21	9	21	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763701	77763701	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:77763701C>A	ENST00000521891.2	+	10	4992	c.4544C>A	c.(4543-4545)tCt>tAt	p.S1515Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1489Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1470Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1470Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1515Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACATGGGCTCTGAACCAAAG	0.448										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4408-4410)TCT>TAT		zinc finger homeodomain 4							55.0	52.0	53.0					8																	77763701		1939	4146	6085	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763701C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4544C>A	8.37:g.77763701C>A	ENSP00000430497:p.Ser1515Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1515Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1470Y	p.S1470Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4796	+			1470					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4409C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	9.126	1.010302	0.19277	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.7;0.67;0.67	5.05	4.16	0.48862	.	0.178508	0.26808	U	0.022400	T	0.40743	0.1129	L	0.42245	1.32	0.44762	D	0.997767	P;P;P	0.40875	0.612;0.731;0.731	B;B;B	0.40228	0.172;0.323;0.323	T	0.16512	-1.0400	10	0.21540	T	0.41	.	14.0049	0.64456	0.0:0.9261:0.0:0.0739	.	1470;1470;1515	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1515;1515;1470;1470;1489	ENSP00000430497:S1515Y;ENSP00000399605:S1470Y;ENSP00000050961:S1470Y;ENSP00000430848:S1489Y	ENSP00000050961:S1470Y	S	+	2	0	ZFHX4	77926256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.937000	0.56575	1.329000	0.45376	0.555000	0.69702	TCT		PASS	0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	45	20	45	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95543306	95543306	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:95543306C>A	ENST00000297591.5	-	6	567	c.492G>T	c.(490-492)ggG>ggT	p.G164G	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000421249.2_Silent_p.G164G|KIAA1429_ENST00000437199.1_Silent_p.G164G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	164	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G164G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTCTTTCTCCCCATCAGCTA	0.473																																						uc003ygo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)GGG>GGT		hypothetical protein LOC25962 isoform 1							130.0	120.0	123.0					8																	95543306		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95543306C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.492G>T	8.37:g.95543306C>A						KIAA1429_uc003ygp.2_Silent_p.G164G	p.G164G	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		6	505	-	Breast(36;3.29e-05)		164			Pro-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.492G>T	CCDS34923.1																																																																																				PASS	0.473	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		4	28	4	28	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113237043	113237043	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:113237043A>G	ENST00000297405.5	-	71	11325	c.11081T>C	c.(11080-11082)gTa>gCa	p.V3694A	CSMD3_ENST00000343508.3_Missense_Mutation_p.V3654A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3624A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3525A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3694						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V3694E(1)|p.V3694A(1)|p.V3654A(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						ATCAAATCGTACCGCCTTCCC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	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.(11080-11082)GTA>GCA		CUB and Sushi multiple domains 3 isoform 1							414.0	349.0	371.0					8																	113237043		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237043A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11081T>C	8.37:g.113237043A>G	ENSP00000297405:p.Val3694Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.V2896A|CSMD3_uc003ynt.2_Missense_Mutation_p.V3654A|CSMD3_uc011lhx.1_Missense_Mutation_p.V3525A	p.V3694A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			71	11240	-			3694			Cytoplasmic (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11081T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503748	0.64298	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26660	2.01;2.01;2.06;1.72;2.04	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.48519	0.1504	M	0.65498	2.005	0.58432	D	0.999995	D;D;P	0.69078	0.997;0.995;0.917	D;D;P	0.77557	0.99;0.978;0.693	T	0.34551	-0.9824	10	0.24483	T	0.36	.	16.1416	0.81528	1.0:0.0:0.0:0.0	.	3525;3694;3654	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3654;3694;2964;3525;3624	ENSP00000345799:V3654A;ENSP00000297405:V3694A;ENSP00000341558:V2964A;ENSP00000412263:V3525A;ENSP00000343124:V3624A	ENSP00000297405:V3694A	V	-	2	0	CSMD3	113306219	1.000000	0.71417	0.716000	0.30569	0.941000	0.58515	9.195000	0.94971	2.209000	0.71365	0.482000	0.46254	GTA		PASS	0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		40	82	40	82	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113418774	113418774	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:113418774C>A	ENST00000297405.5	-	35	6032	c.5788G>T	c.(5788-5790)Gat>Tat	p.D1930Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1890Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1860Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1826Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1930	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1930Y(1)|p.D1890Y(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						GGTAAGGAATCATTCCACTGG	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5788-5790)GAT>TAT		CUB and Sushi multiple domains 3 isoform 1							85.0	86.0	86.0					8																	113418774		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418774C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5788G>T	8.37:g.113418774C>A	ENSP00000297405:p.Asp1930Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1132Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D1890Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1826Y	p.D1930Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5947	-			1930			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5788G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355153	0.61293	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	4.8	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.142257	0.46758	D	0.000267	T	0.47985	0.1475	M	0.73598	2.24	0.45690	D	0.998605	D;P;D	0.69078	0.98;0.947;0.997	P;P;D	0.69479	0.844;0.79;0.964	T	0.46721	-0.9171	10	0.62326	D	0.03	.	11.8386	0.52340	0.0:0.9195:0.0:0.0805	.	1826;1930;1890	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1890;1930;1200;1826;1860	ENSP00000345799:D1890Y;ENSP00000297405:D1930Y;ENSP00000341558:D1200Y;ENSP00000412263:D1826Y;ENSP00000343124:D1860Y	ENSP00000297405:D1930Y	D	-	1	0	CSMD3	113487950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.836000	0.55813	2.652000	0.90054	0.655000	0.94253	GAT		PASS	0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	42	26	42	---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134262695	134262695	+	Missense_Mutation	SNP	T	T	C	rs137993172		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:134262695T>C	ENST00000414097.2	-	10	1553	c.686A>G	c.(685-687)aAt>aGt	p.N229S	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.N229S|NDRG1_ENST00000354944.5_Missense_Mutation_p.N159S|NDRG1_ENST00000537882.1_Missense_Mutation_p.N148S|NDRG1_ENST00000522476.1_Missense_Mutation_p.N163S|NDRG1_ENST00000521414.1_5'Flank|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	229					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.N229S(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTTGTAGGCATTGATGAACAG	0.468			T	ERG	prostate																																	uc003yuh.2				Dom	yes		8	8q24.3	10397		N-myc downstream regulated 1			E					1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(685-687)AAT>AGT		N-myc downstream regulated 1		T	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	268.0	216.0	234.0		686,686	2.8	0.7	8	dbSNP_134	234	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	NDRG1	NM_001135242.1,NM_006096.3	46,46	0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308	benign,benign	229/395,229/395	134262695	4,13002	2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134262695T>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.686A>G	8.37:g.134262695T>C	ENSP00000404854:p.Asn229Ser					NDRG1_uc003yuf.1_Missense_Mutation_p.N40S|NDRG1_uc003yug.2_Missense_Mutation_p.N229S|NDRG1_uc010mee.2_Missense_Mutation_p.N148S|NDRG1_uc010mef.2_Missense_Mutation_p.N163S|NDRG1_uc011ljh.1_Missense_Mutation_p.N57S|NDRG1_uc011lji.1_Intron	p.N229S	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		10	1272	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		229					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.686A>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	T	5.536	0.283738	0.10458	2.27E-4	3.49E-4	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000535532;ENST00000522476	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.57	2.84	0.33178	.	0.090717	0.85682	N	0.000000	T	0.20414	0.0491	M	0.80422	2.495	0.23459	N	0.997631	B	0.02656	0.0	B	0.04013	0.001	T	0.20438	-1.0275	10	0.41790	T	0.15	-18.845	7.4098	0.27011	0.0:0.227:0.0:0.773	.	229	Q92597	NDRG1_HUMAN	S	229;159;229;148;57;163	ENSP00000319977:N229S;ENSP00000347028:N159S;ENSP00000404854:N229S;ENSP00000437443:N148S;ENSP00000427894:N163S	ENSP00000319977:N229S	N	-	2	0	NDRG1	134331877	0.996000	0.38824	0.748000	0.31131	0.002000	0.02628	2.568000	0.45965	0.272000	0.22027	-0.250000	0.11733	AAT		PASS	0.468	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			32	81	32	81	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164198	139164198	+	Missense_Mutation	SNP	C	C	A	rs139253577		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:139164198C>A	ENST00000395297.1	-	13	2690	c.2520G>T	c.(2518-2520)caG>caT	p.Q840H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	840								p.Q840H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCCGGGGCCCTGCTGGTTGT	0.522										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2518-2520)CAG>CAT		hypothetical protein LOC51059							94.0	83.0	86.0					8																	139164198		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164198C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2520G>T	8.37:g.139164198C>A	ENSP00000378710:p.Gln840His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Q741H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.Q402H|FAM135B_uc003yvb.2_Missense_Mutation_p.Q402H	p.Q840H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2691	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		840					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2520G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374174	0.24857	.	.	ENSG00000147724	ENST00000395297	T	0.16457	2.34	5.53	0.587	0.17439	.	0.692108	0.13444	N	0.387403	T	0.11580	0.0282	L	0.34521	1.04	0.09310	N	1	B;B;B	0.24368	0.102;0.051;0.006	B;B;B	0.24155	0.051;0.037;0.007	T	0.25813	-1.0121	10	0.49607	T	0.09	-8.4928	5.3099	0.15825	0.0:0.4736:0.1366:0.3897	.	840;840;840	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	H	840	ENSP00000378710:Q840H	ENSP00000276737:Q840H	Q	-	3	2	FAM135B	139233380	0.000000	0.05858	0.016000	0.15963	0.043000	0.13939	0.326000	0.19646	-0.181000	0.10619	-0.176000	0.13171	CAG		PASS	0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		19	40	19	40	---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144406775	144406775	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:144406775C>A	ENST00000329245.4	-	6	730	c.696G>T	c.(694-696)ccG>ccT	p.P232P	TOP1MT_ENST00000521193.1_Silent_p.P134P|TOP1MT_ENST00000523676.1_Silent_p.P134P|TOP1MT_ENST00000519148.1_Silent_p.P134P	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	232					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.P232P(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GGTGCCCCGCCGGCGGCTCGG	0.562																																						uc003yxz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(694-696)CCG>CCT		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						85.0	90.0	88.0					8																	144406775		2203	4300	6503	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406775C>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.696G>T	8.37:g.144406775C>A						TOP1MT_uc011lkd.1_Silent_p.P134P|TOP1MT_uc011lke.1_Silent_p.P134P|TOP1MT_uc010mfb.2_Silent_p.P134P|TOP1MT_uc011lkf.1_Silent_p.P27P|TOP1MT_uc010mfd.1_Silent_p.P27P	p.P232P	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		6	715	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		232					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.696G>T	CCDS6400.1																																																																																				PASS	0.562	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		29	20	29	20	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144990859	144990859	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr8:144990859C>G	ENST00000322810.4	-	32	13710	c.13541G>C	c.(13540-13542)gGc>gCc	p.G4514A	PLEC_ENST00000436759.2_Missense_Mutation_p.G4404A|PLEC_ENST00000356346.3_Missense_Mutation_p.G4363A|PLEC_ENST00000354958.2_Missense_Mutation_p.G4355A|PLEC_ENST00000345136.3_Missense_Mutation_p.G4377A|PLEC_ENST00000357649.2_Missense_Mutation_p.G4381A|PLEC_ENST00000398774.2_Missense_Mutation_p.G4345A|PLEC_ENST00000527096.1_Missense_Mutation_p.G4400A|PLEC_ENST00000354589.3_Missense_Mutation_p.G4377A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4514	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.G4514A(1)|p.G4404A(1)|p.G4377A(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTAGAGCCAGCCCTTCTTCAG	0.672																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13540-13542)GGC>GCC		plectin isoform 1							29.0	33.0	32.0					8																	144990859		2033	4179	6212	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144990859C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13541G>C	8.37:g.144990859C>G	ENSP00000323856:p.Gly4514Ala					PLEC_uc003zab.1_Missense_Mutation_p.G4377A|PLEC_uc003zac.1_Missense_Mutation_p.G4381A|PLEC_uc003zad.2_Missense_Mutation_p.G4377A|PLEC_uc003zae.1_Missense_Mutation_p.G4345A|PLEC_uc003zag.1_Missense_Mutation_p.G4355A|PLEC_uc003zah.2_Missense_Mutation_p.G4363A|PLEC_uc003zaj.2_Missense_Mutation_p.G4404A	p.G4514A	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13711	-			4514			Globular 2.|Plectin 31.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13541G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316423	0.40996	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000006	T	0.80994	0.4731	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	T	0.81566	-0.0874	10	0.52906	T	0.07	.	18.5216	0.90954	0.0:1.0:0.0:0.0	.	4404;4363;4355;4514;4345;4377;4381;4377	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	A	4377;4381;4377;4345;4514;4355;4363;4404;4400	ENSP00000344848:G4377A;ENSP00000350277:G4381A;ENSP00000346602:G4377A;ENSP00000381756:G4345A;ENSP00000323856:G4514A;ENSP00000347044:G4355A;ENSP00000348702:G4363A;ENSP00000388180:G4404A;ENSP00000434583:G4400A	ENSP00000323856:G4514A	G	-	2	0	PLEC	145062847	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.756000	0.62205	2.693000	0.91896	0.643000	0.83706	GGC		PASS	0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	24	9	24	---	---	---	---
IFNA5	3442	broad.mit.edu	37	9	21305250	21305250	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:21305250G>T	ENST00000259555.4	-	1	62	c.6C>A	c.(4-6)gcC>gcA	p.A2A		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	2					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.A2A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAAGGGCAAGGCCATTGGGG	0.507																																						uc011lnh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4-6)GCC>GCA		interferon, alpha 5 precursor							45.0	46.0	46.0					9																	21305250		2203	4300	6503	SO:0001819	synonymous_variant	3442				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21305250G>T		CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.6C>A	9.37:g.21305250G>T							p.A2A	NM_002169	NP_002160	P01569	IFNA5_HUMAN		Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	6	-			2					Q52LX3	Silent	SNP	ENST00000259555.4	37	c.6C>A	CCDS6502.1																																																																																				PASS	0.507	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169		22	11	22	11	---	---	---	---
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.V246V(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607																																						uc003zst.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(736-738)GTC>GTT		aquaporin 7							62.0	69.0	67.0					9																	33385652		2203	4299	6502	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385652G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.343C>T	9.37:g.33385652G>A	ENSP00000438860:p.Leu115Phe					SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.V189V|AQP7_uc010mjs.2_Silent_p.V154V|AQP7_uc010mjt.2_Silent_p.V154V|AQP7_uc011lnx.1_Silent_p.V246V|AQP7_uc011lny.1_Silent_p.V245V|AQP7_uc003zss.3_Silent_p.V154V|AQP7_uc011lnz.1_Silent_p.V154V|AQP7_uc011loa.1_Missense_Mutation_p.L115F	p.V246V	NM_001170	NP_001161	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	7	910	-			246			Extracellular (Potential).		Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000541274.1	37	c.738C>T		.	.	.	.	.	.	.	.	.	.	g	5.491	0.275672	0.10403	.	.	ENSG00000165269	ENST00000541274	T	0.57273	0.41	5.04	-0.0464	0.13847	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16571	-1.0398	8	0.87932	D	0	-25.9005	3.6599	0.08234	0.1728:0.4699:0.2451:0.1121	.	115	B7Z7F6	.	F	115	ENSP00000438860:L115F	ENSP00000438860:L115F	L	-	1	0	AQP7	33375652	0.004000	0.15560	0.966000	0.40874	0.292000	0.27327	-1.343000	0.02642	-0.168000	0.10853	-0.232000	0.12228	CTT		PASS	0.607	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	49	5	49	---	---	---	---
GALT	2592	broad.mit.edu	37	9	34647203	34647203	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:34647203G>A	ENST00000378842.3	+	2	242	c.200G>A	c.(199-201)cGc>cAc	p.R67H	GALT_ENST00000450095.2_5'UTR|GALT_ENST00000556278.1_Missense_Mutation_p.R67H	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	67			R -> C (in GALCT). {ECO:0000269|PubMed:8598637}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.R67H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACAGTGCCCCGCCATGACCCT	0.632									Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zve.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM012753	GALT	M		c.(199-201)CGC>CAC		galactose-1-phosphate uridylyltransferase							65.0	65.0	65.0					9																	34647203		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647203G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.200G>A	9.37:g.34647203G>A	ENSP00000368119:p.Arg67His		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	849	GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.R19H|GALT_uc011lop.1_Missense_Mutation_p.R19H	p.R67H	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	267	+	all_epithelial(49;0.102)		67		R -> C (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.200G>A	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785626	0.90282	.	.	ENSG00000213930;ENSG00000258728	ENST00000378842;ENST00000556278	D;D	0.99369	-5.78;-5.78	5.53	5.53	0.82687	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.072212	0.51477	U	0.000099	D	0.99143	0.9704	L	0.58428	1.81	0.80722	D	1	D;D	0.69078	0.984;0.997	D;P	0.65140	0.932;0.879	D	0.99830	1.1053	10	0.56958	D	0.05	-11.244	18.0485	0.89340	0.0:0.0:1.0:0.0	.	19;67	B4DT62;P07902	.;GALT_HUMAN	H	67	ENSP00000368119:R67H;ENSP00000451792:R67H	ENSP00000368119:R67H	R	+	2	0	RP11-195F19.29;GALT	34637203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.273000	0.78527	2.628000	0.89032	0.561000	0.74099	CGC		PASS	0.632	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		24	11	24	11	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74842874	74842874	+	Missense_Mutation	SNP	G	G	A	rs551530651		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:74842874G>A	ENST00000358399.3	+	9	931	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	GDA_ENST00000376989.3_Missense_Mutation_p.G219S|GDA_ENST00000238018.4_Missense_Mutation_p.G280S|GDA_ENST00000545168.1_Missense_Mutation_p.G206S|GDA_ENST00000376986.1_Missense_Mutation_p.G202S|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	280					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.G280S(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GATGGCACACGGCTGCTACCT	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20636	0.0		0.0	False		,,,				2504	0.0					uc004aiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(838-840)GGC>AGC		guanine deaminase							115.0	88.0	97.0					9																	74842874		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74842874G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.838G>A	9.37:g.74842874G>A	ENSP00000351170:p.Gly280Ser					GDA_uc011lse.1_Missense_Mutation_p.G206S|GDA_uc011lsf.1_Missense_Mutation_p.G206S|GDA_uc004air.2_Missense_Mutation_p.G280S|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.G202S|GDA_uc004ait.1_Missense_Mutation_p.G206S	p.G280S	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	9	1021	+		Myeloproliferative disorder(762;0.0122)	280					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.838G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199544	0.79015	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.38	5.38	0.77491	Amidohydrolase 1 (1);	0.046947	0.85682	D	0.000000	D	0.92782	0.7705	L	0.51853	1.615	0.49915	D	0.999836	P;D;D	0.76494	0.856;0.996;0.999	P;P;D	0.67548	0.635;0.901;0.952	D	0.90043	0.4143	10	0.19590	T	0.45	-7.1373	16.4114	0.83713	0.0:0.0:1.0:0.0	.	202;280;280	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	S	206;280;219;202;280;146	ENSP00000437972:G206S;ENSP00000238018:G280S;ENSP00000366188:G219S;ENSP00000366185:G202S;ENSP00000351170:G280S;ENSP00000403897:G146S	ENSP00000238018:G280S	G	+	1	0	GDA	74032694	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.822000	0.75277	2.668000	0.90789	0.563000	0.77884	GGC		PASS	0.458	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			12	7	12	7	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77407667	77407667	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:77407667C>G	ENST00000360774.1	-	19	2648	c.2411G>C	c.(2410-2412)aGg>aCg	p.R804T	TRPM6_ENST00000376864.4_Missense_Mutation_p.R804T|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R799T|TRPM6_ENST00000449912.2_Missense_Mutation_p.R799T|TRPM6_ENST00000451710.3_Missense_Mutation_p.R804T	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	804					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R804T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCATGGCCCCTTTCCAAATC	0.368																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2410-2412)AGG>ACG		transient receptor potential cation channel,							104.0	88.0	94.0					9																	77407667		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77407667C>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2411G>C	9.37:g.77407667C>G	ENSP00000354006:p.Arg804Thr					TRPM6_uc004ajk.1_Missense_Mutation_p.R799T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron	p.R804T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			19	2649	-			804			Extracellular (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2411G>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506891	0.26949	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.88	0.726	0.18248	.	0.281160	0.37669	N	0.001997	T	0.77611	0.4156	M	0.69823	2.125	0.33469	D	0.585974	B;B	0.20887	0.049;0.001	B;B	0.19946	0.027;0.016	T	0.74842	-0.3527	10	0.72032	D	0.01	.	5.3102	0.15825	0.1382:0.5082:0.0:0.3536	.	804;799	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	T	804;804;799;799;804;467;467	ENSP00000354006:R804T;ENSP00000407341:R804T;ENSP00000396672:R799T;ENSP00000354962:R799T;ENSP00000366060:R804T	ENSP00000309693:R467T	R	-	2	0	TRPM6	76597487	0.000000	0.05858	0.843000	0.33291	0.593000	0.36681	-0.200000	0.09478	0.358000	0.24211	0.637000	0.83480	AGG		PASS	0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	6	12	6	---	---	---	---
C9orf64	84267	broad.mit.edu	37	9	86570396	86570396	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:86570396G>C	ENST00000376344.3	-	2	713	c.497C>G	c.(496-498)tCt>tGt	p.S166C	C9orf64_ENST00000376340.2_Missense_Mutation_p.S25C|C9orf64_ENST00000314700.1_Missense_Mutation_p.S25C	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	166								p.S166C(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GTTGAGAAAAGAGCCTCCAAA	0.443																																						uc004anb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)TCT>TGT		hypothetical protein LOC84267							78.0	77.0	77.0					9																	86570396		2203	4300	6503	SO:0001583	missense	84267							g.chr9:86570396G>C	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.497C>G	9.37:g.86570396G>C	ENSP00000365522:p.Ser166Cys					C9orf64_uc004anc.2_Missense_Mutation_p.S25C	p.S166C	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			2	745	-			166					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.497C>G	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884691	0.72410	.	.	ENSG00000165118	ENST00000376344;ENST00000314700;ENST00000376340	.	.	.	5.7	5.7	0.88788	.	0.115539	0.64402	D	0.000017	D	0.85150	0.5631	M	0.86805	2.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86632	0.1886	9	0.66056	D	0.02	-17.1718	19.8297	0.96630	0.0:0.0:1.0:0.0	.	166	Q5T6V5	CI064_HUMAN	C	166;25;25	.	ENSP00000318375:S25C	S	-	2	0	C9orf64	85760216	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.001000	0.63946	2.697000	0.92050	0.557000	0.71058	TCT		PASS	0.443	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		19	18	19	18	---	---	---	---
WNK2	65268	broad.mit.edu	37	9	95993306	95993306	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:95993306A>T	ENST00000297954.4	+	3	991	c.991A>T	c.(991-993)Atc>Ttc	p.I331F	WNK2_ENST00000395477.2_Missense_Mutation_p.I331F|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.I317F|WNK2_ENST00000349097.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I331F(1)|p.I317F(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAATATTTTCATCACCGGACC	0.537																																						uc004ati.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(991-993)ATC>TTC		WNK lysine deficient protein kinase 2							181.0	175.0	177.0					9																	95993306		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:95993306A>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.991A>T	9.37:g.95993306A>T	ENSP00000297954:p.Ile331Phe					WNK2_uc011lud.1_Missense_Mutation_p.I331F|WNK2_uc004atj.2_Missense_Mutation_p.I331F|WNK2_uc010mrc.1_Missense_Mutation_p.I331F|WNK2_uc010mrd.1_5'UTR	p.I331F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			3	991	+			331			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.991A>T		.	.	.	.	.	.	.	.	.	.	A	19.66	3.869503	0.72065	.	.	ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78748	0.4332	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.80919	-0.1167	10	0.87932	D	0	.	15.6436	0.77029	1.0:0.0:0.0:0.0	.	331;331;331;331	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	F	331;331;331;317	ENSP00000412465:I331F;ENSP00000297954:I331F;ENSP00000378860:I331F;ENSP00000378858:I317F	ENSP00000297954:I331F	I	+	1	0	WNK2	95033127	1.000000	0.71417	0.998000	0.56505	0.792000	0.44763	9.119000	0.94362	2.100000	0.63781	0.533000	0.62120	ATC		PASS	0.537	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		51	64	51	64	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104449076	104449076	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:104449076C>A	ENST00000361820.3	-	2	1706	c.1106G>T	c.(1105-1107)gGt>gTt	p.G369V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	369					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G369V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TAAGGGCAGACCCTCTGTCCT	0.517																																						uc004bbp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1105-1107)GGT>GTT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						93.0	75.0	81.0					9																	104449076		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449076C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1106G>T	9.37:g.104449076C>A	ENSP00000355155:p.Gly369Val					GRIN3A_uc004bbq.1_Missense_Mutation_p.G369V	p.G369V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	1707	-		Acute lymphoblastic leukemia(62;0.0568)	369			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1106G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096548	0.76870	.	.	ENSG00000198785	ENST00000361820	D	0.85556	-2.0	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91228	0.5012	10	0.52906	T	0.07	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	369	Q8TCU5	NMD3A_HUMAN	V	369	ENSP00000355155:G369V	ENSP00000355155:G369V	G	-	2	0	GRIN3A	103488897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.899000	0.69846	2.763000	0.94921	0.563000	0.77884	GGT		PASS	0.517	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			11	3	11	3	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107602611	107602611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:107602611C>A	ENST00000374736.3	-	9	1397	c.1003G>T	c.(1003-1005)Gga>Tga	p.G335*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	335					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G335*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCATTGCCTCCAAAGAGGGCT	0.547																																						uc004bcl.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(1003-1005)GGA>TGA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						125.0	97.0	107.0					9																	107602611		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107602611C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1003G>T	9.37:g.107602611C>A	ENSP00000363868:p.Gly335*						p.G335*	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	9	1316	-			335			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.1003G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	42	9.310537	0.99133	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7013	0.91621	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000363868:G335X	G	-	1	0	ABCA1	106642432	1.000000	0.71417	0.995000	0.50966	0.891000	0.51852	7.445000	0.80570	2.418000	0.82041	0.655000	0.94253	GGA		PASS	0.547	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		18	15	18	15	---	---	---	---
TMEM38B	55151	broad.mit.edu	37	9	108536277	108536277	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr9:108536277C>A	ENST00000374692.3	+	6	909	c.792C>A	c.(790-792)tcC>tcA	p.S264S	TMEM38B_ENST00000374688.1_Silent_p.S210S	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	264						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.S264S(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AGTCACCTTCCAATGGCGTTG	0.408																																						uc004bcu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(790-792)TCC>TCA		transmembrane protein 38B							98.0	95.0	96.0					9																	108536277		2203	4299	6502	SO:0001819	synonymous_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108536277C>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.792C>A	9.37:g.108536277C>A						TMEM38B_uc010mtn.1_3'UTR	p.S264S	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			6	909	+			264			Cytoplasmic (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	c.792C>A	CCDS6768.1																																																																																				PASS	0.408	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		5	41	5	41	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27688069	27688069	+	Silent	SNP	C	C	T	rs140478412		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:27688069C>T	ENST00000438700.3	-	4	1575	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	486	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.A486A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TAGACACTGCCGCTTTTGAAT	0.423																																						uc001itu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1456-1458)GCG>GCA		patched domain containing 3		C		0,4406		0,0,2203	94.0	81.0	86.0		1458	0.8	0.5	10	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		486/768	27688069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688069C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1458G>A	10.37:g.27688069C>T							p.A486A	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1576	-			486			SSD.|Helical; (Potential).		I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1458G>A	CCDS31173.1																																																																																				PASS	0.423	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		42	26	42	26	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717708	89717708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:89717708C>T	ENST00000371953.3	+	7	2090	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	245	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q245*(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAGTTCCCTCAGCCGTTACC	0.418		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		57	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(8)|Deletion - In frame(1)|Unknown(1)	p.Q245*(6)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(11)|lung(7)|skin(6)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM981673	PTEN	M		c.(733-735)CAG>TAG		phosphatase and tensin homolog							139.0	120.0	126.0					10																	89717708		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717708C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.733C>T	10.37:g.89717708C>T	ENSP00000361021:p.Gln245*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q245*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1764	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	245			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.733C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.306251	0.99829	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.054326	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3071	18.6161	0.91303	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	.	Q	+	1	0	PTEN	89707688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.380000	0.81148	0.585000	0.79938	CAG		PASS	0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		31	23	31	23	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112262559	112262559	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:112262559G>A	ENST00000369583.3	+	2	744	c.460G>A	c.(460-462)Gag>Aag	p.E154K	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	154			E -> D (in dbSNP:rs2282238).		endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E154K(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GATTGAGAGTGAGAGAGCCCT	0.453																																						uc001kzd.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(460-462)GAG>AAG		dual specificity phosphatase 5							172.0	150.0	158.0					10																	112262559		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262559G>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.460G>A	10.37:g.112262559G>A	ENSP00000358596:p.Glu154Lys						p.E154K	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	2	715	+		Breast(234;0.0848)	154					Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.460G>A	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214086	0.39102	.	.	ENSG00000138166	ENST00000369583	T	0.28666	1.6	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.22421	0.69	0.80722	D	1	P	0.46395	0.877	B	0.38106	0.265	T	0.03993	-1.0986	10	0.09843	T	0.71	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	154	Q16690	DUS5_HUMAN	K	154	ENSP00000358596:E154K	ENSP00000358596:E154K	E	+	1	0	DUSP5	112252549	1.000000	0.71417	0.968000	0.41197	0.605000	0.37080	8.765000	0.91724	2.850000	0.98022	0.650000	0.86243	GAG		PASS	0.453	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		28	53	28	53	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115891764	115891764	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:115891764T>C	ENST00000369287.3	-	11	2101	c.1835A>G	c.(1834-1836)cAa>cGa	p.Q612R	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.Q210R	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		612								p.Q612R(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTTATCAAATTGTGACTGCAA	0.348																																						uc001lbb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1834-1836)CAA>CGA		CTCL tumor antigen L14-2							96.0	93.0	94.0					10																	115891764		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115891764T>C																												ENST00000369287.3:c.1835A>G	10.37:g.115891764T>C	ENSP00000358293:p.Gln612Arg					C10orf118_uc009xyd.1_Missense_Mutation_p.Q210R|C10orf118_uc001lbc.1_Missense_Mutation_p.Q612R|C10orf118_uc009xye.1_RNA	p.Q612R	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	11	2487	-		Colorectal(252;0.172)|Breast(234;0.188)	612			Potential.		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.1835A>G	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907094	0.72868	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T;T	0.31247	1.5;1.5	5.7	5.7	0.88788	.	0.108387	0.64402	D	0.000004	T	0.36552	0.0971	L	0.60455	1.87	0.52501	D	0.999956	B;P	0.46142	0.241;0.873	B;B	0.44044	0.133;0.439	T	0.21143	-1.0254	10	0.59425	D	0.04	.	14.5681	0.68194	0.0:0.0:0.0:1.0	.	210;612	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	R	612;210;718	ENSP00000358293:Q612R;ENSP00000441576:Q210R	ENSP00000358293:Q612R	Q	-	2	0	C10orf118	115881754	1.000000	0.71417	0.825000	0.32803	0.981000	0.71138	7.430000	0.80321	2.174000	0.68829	0.529000	0.55759	CAA		PASS	0.348	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			22	48	22	48	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115963163	115963163	+	Missense_Mutation	SNP	T	T	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:115963163T>G	ENST00000369280.1	+	8	1278	c.818T>G	c.(817-819)tTc>tGc	p.F273C	TDRD1_ENST00000251864.2_Missense_Mutation_p.F273C|TDRD1_ENST00000369281.2_Missense_Mutation_p.F273C|TDRD1_ENST00000369282.1_Missense_Mutation_p.F273C|TDRD1_ENST00000422662.1_5'UTR			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	273					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.F273C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTTACCGAATTCAAACACCCA	0.348																																						uc001lbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)TTC>TGC		tudor domain containing 1							104.0	111.0	109.0					10																	115963163		2201	4300	6501	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115963163T>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.818T>G	10.37:g.115963163T>G	ENSP00000358286:p.Phe273Cys					TDRD1_uc001lbf.2_Missense_Mutation_p.F264C|TDRD1_uc001lbh.1_Missense_Mutation_p.F264C|TDRD1_uc001lbi.1_Missense_Mutation_p.F264C|TDRD1_uc010qsc.1_Translation_Start_Site|TDRD1_uc001lbj.2_Translation_Start_Site	p.F273C	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	8	971	+		Colorectal(252;0.172)|Breast(234;0.188)	273					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.818T>G		.	.	.	.	.	.	.	.	.	.	T	19.54	3.846085	0.71603	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.62	5.62	0.85841	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.58583	1.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.01004	-1.1484	10	0.72032	D	0.01	-10.6383	13.3531	0.60613	0.0:0.0:0.0:1.0	.	273;273;273;273	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	C	273	ENSP00000358288:F273C;ENSP00000251864:F273C;ENSP00000358287:F273C;ENSP00000358286:F273C	ENSP00000251864:F273C	F	+	2	0	TDRD1	115953153	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.170000	0.64990	2.154000	0.67381	0.482000	0.46254	TTC		PASS	0.348	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			36	80	36	80	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122666322	122666322	+	Missense_Mutation	SNP	G	G	A	rs141544883		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:122666322G>A	ENST00000263461.6	+	28	3718	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E1158K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTTATTTGTGGAAGCTTGCCT	0.433																																						uc010qtf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3472-3474)GAA>AAA		bromodomain and WD repeat domain containing 2		G	LYS/GLU	0,4406		0,0,2203	229.0	207.0	214.0		3472	4.8	1.0	10	dbSNP_134	214	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR11	NM_018117.11	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1158/1225	122666322	1,13005	2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122666322G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3472G>A	10.37:g.122666322G>A	ENSP00000263461:p.Glu1158Lys					WDR11_uc010qte.1_Missense_Mutation_p.E760K|WDR11_uc001lfd.1_3'UTR|WDR11_uc009xzn.2_Intron|uc001lfe.1_5'Flank	p.E1158K	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			28	3710	+			1158					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.3472G>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177391	0.78564	0.0	1.16E-4	ENSG00000120008	ENST00000263461	D	0.90900	-2.75	5.72	4.8	0.61643	.	0.100427	0.64402	D	0.000002	D	0.88097	0.6345	M	0.64997	1.995	0.58432	D	0.999991	B;P	0.35745	0.376;0.518	B;B	0.30401	0.115;0.115	D	0.85892	0.1429	10	0.27082	T	0.32	-20.6948	16.6599	0.85238	0.0:0.1298:0.8702:0.0	.	1158;1158	Q9BZH6;B2RCJ6	WDR11_HUMAN;.	K	1158	ENSP00000263461:E1158K	ENSP00000263461:E1158K	E	+	1	0	WDR11	122656312	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.254000	0.78329	1.373000	0.46208	0.655000	0.94253	GAA		PASS	0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			23	51	23	51	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122666349	122666349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr10:122666349G>T	ENST00000263461.6	+	28	3745	c.3499G>T	c.(3499-3501)Gaa>Taa	p.E1167*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.E1167*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGGAGCATTTGAAGTCACTGA	0.418																																						uc010qtf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3499-3501)GAA>TAA		bromodomain and WD repeat domain containing 2							219.0	201.0	207.0					10																	122666349		2203	4300	6503	SO:0001587	stop_gained	55717					integral to membrane		g.chr10:122666349G>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3499G>T	10.37:g.122666349G>T	ENSP00000263461:p.Glu1167*					WDR11_uc010qte.1_Nonsense_Mutation_p.E769*|WDR11_uc001lfd.1_3'UTR|WDR11_uc009xzn.2_Intron|uc001lfe.1_5'Flank	p.E1167*	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			28	3737	+			1167					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	c.3499G>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	42	9.294557	0.99128	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.72	4.81	0.61882	.	0.266907	0.41605	D	0.000848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-5.2591	16.8533	0.86000	0.0:0.1283:0.8717:0.0	.	.	.	.	X	1167	.	ENSP00000263461:E1167X	E	+	1	0	WDR11	122656339	1.000000	0.71417	0.033000	0.17914	0.398000	0.30690	6.043000	0.71004	1.398000	0.46701	0.655000	0.94253	GAA		PASS	0.418	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			23	50	23	50	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1018514	1018514	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:1018514G>T	ENST00000421673.2	-	31	4337	c.4287C>A	c.(4285-4287)gcC>gcA	p.A1429A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1429	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.A1429A(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGTAGTGGTGGCATGGAAAG	0.567																																						uc001lsw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(4285-4287)GCC>GCA		mucin 6, gastric							294.0	289.0	291.0					11																	1018514		2173	4264	6437	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018514G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4287C>A	11.37:g.1018514G>T							p.A1429A	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4338	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1429			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.4287C>A	CCDS44513.1																																																																																				PASS	0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	156	9	156	---	---	---	---
BRSK2	9024	broad.mit.edu	37	11	1467072	1467072	+	Missense_Mutation	SNP	C	C	A	rs564530908		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:1467072C>A	ENST00000528841.1	+	12	1545	c.1161C>A	c.(1159-1161)agC>agA	p.S387R	BRSK2_ENST00000382179.1_Missense_Mutation_p.S433R|BRSK2_ENST00000528710.1_Missense_Mutation_p.S327R|BRSK2_ENST00000308230.5_Missense_Mutation_p.S387R|BRSK2_ENST00000308219.9_Missense_Mutation_p.S387R|BRSK2_ENST00000526678.1_Missense_Mutation_p.S387R|BRSK2_ENST00000544817.1_Missense_Mutation_p.S82R|BRSK2_ENST00000531197.1_Missense_Mutation_p.S387R			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	387					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.S387R(1)		endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGTGCTCAGCGTGACGGACG	0.692																																						uc001lti.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)AGC>AGA		BR serine/threonine kinase 2							36.0	47.0	43.0					11																	1467072		2174	4265	6439	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1467072C>A	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1161C>A	11.37:g.1467072C>A	ENSP00000432000:p.Ser387Arg					BRSK2_uc009ycv.1_Missense_Mutation_p.S387R|BRSK2_uc001lth.1_Missense_Mutation_p.S387R|BRSK2_uc001ltj.2_Missense_Mutation_p.S387R|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.S387R|BRSK2_uc001ltm.2_Missense_Mutation_p.S433R|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.S387R	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	12	1547	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	387					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1161C>A	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515814	0.64634	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.73681	-0.74;1.8;-0.77;1.83;-0.77;1.83;-0.58;0.73	4.71	-2.03	0.07365	Protein kinase-like domain (1);	0.103767	0.64402	U	0.000005	T	0.79828	0.4513	L	0.57536	1.79	0.45216	D	0.998227	D;D;D;D;D	0.63880	0.989;0.983;0.993;0.964;0.961	D;P;D;P;P	0.70716	0.967;0.786;0.97;0.82;0.77	T	0.77576	-0.2536	10	0.54805	T	0.06	.	12.1584	0.54091	0.0:0.3054:0.0:0.6946	.	387;433;387;387;387	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	R	387;387;387;387;387;327;433;82	ENSP00000310697:S387R;ENSP00000431152:S387R;ENSP00000310805:S387R;ENSP00000432000:S387R;ENSP00000433370:S387R;ENSP00000433235:S327R;ENSP00000371614:S433R;ENSP00000445168:S82R	ENSP00000310697:S387R	S	+	3	2	BRSK2	1423648	0.000000	0.05858	0.988000	0.46212	0.902000	0.53008	-1.891000	0.01611	-0.428000	0.07339	-1.523000	0.00931	AGC		PASS	0.692	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		5	12	5	12	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080752	5080752	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:5080752C>G	ENST00000321522.2	-	1	105	c.106G>C	c.(106-108)Gtg>Ctg	p.V36L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V36L(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCATGTACACAGCACAGAAG	0.512																																						uc010qyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(106-108)GTG>CTG		olfactory receptor, family 52, subfamily E,							120.0	107.0	112.0					11																	5080752		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080752C>G	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.106G>C	11.37:g.5080752C>G	ENSP00000322088:p.Val36Leu						p.V36L	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	106	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	36			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.106G>C	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619805	0.28801	.	.	ENSG00000176787	ENST00000321522	T	0.00418	7.49	3.57	3.57	0.40892	.	0.149903	0.30676	N	0.009110	T	0.00271	0.0008	L	0.38175	1.15	0.33232	D	0.556018	B	0.16802	0.019	B	0.16722	0.016	T	0.38950	-0.9637	10	0.37606	T	0.19	.	5.576	0.17222	0.0:0.7835:0.0:0.2165	.	36	Q8NGJ4	O52E2_HUMAN	L	36	ENSP00000322088:V36L	ENSP00000322088:V36L	V	-	1	0	OR52E2	5037328	0.000000	0.05858	1.000000	0.80357	0.698000	0.40448	-0.253000	0.08794	2.322000	0.78497	0.650000	0.86243	GTG		PASS	0.512	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	24	4	24	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969164	5969164	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:5969164C>T	ENST00000329564.6	+	1	595	c.588C>T	c.(586-588)gtC>gtT	p.V196V	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V196V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGATGATGTCACCATCAATC	0.473																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)GTC>GTT		olfactory receptor, family 56, subfamily A,							128.0	127.0	127.0					11																	5969164		2150	4290	6440	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969164C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.588C>T	11.37:g.5969164C>T							p.V196V	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	588	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	196			Extracellular (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.588C>T	CCDS41614.1																																																																																				PASS	0.473	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		6	56	6	56	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9167295	9167295	+	Silent	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:9167295T>C	ENST00000328194.3	-	17	3245	c.2925A>G	c.(2923-2925)ccA>ccG	p.P975P	DENND5A_ENST00000530044.1_Silent_p.P975P|DENND5A_ENST00000527700.1_Silent_p.P318P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	975	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P975P(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACAGATCCATGGGTTGGCAG	0.488																																						uc001mhl.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)	1						c.(2923-2925)CCA>CCG		RAB6 interacting protein 1							292.0	283.0	286.0					11																	9167295		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9167295T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2925A>G	11.37:g.9167295T>C						DENND5A_uc001mhk.2_Silent_p.P318P|DENND5A_uc010rbw.1_Silent_p.P975P|DENND5A_uc010rbx.1_RNA	p.P975P	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			17	3180	-			975			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2925A>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.59|11.59	1.685001|1.685001	0.29872|0.29872	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000525784|ENST00000524446	.|.	.|.	.|.	5.85|5.85	-9.13|-9.13	0.00704|0.00704	.|.	.|.	.|.	.|.	.|.	T|T	0.32255|0.32255	0.0823|0.0823	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43410|0.43410	-0.9393|-0.9393	4|4	.|.	.|.	.|.	.|.	1.1878|1.1878	0.01859|0.01859	0.1988:0.3115:0.2221:0.2676|0.1988:0.3115:0.2221:0.2676	.|.	.|.	.|.	.|.	R|V	23|146	.|.	.|.	H|M	-|-	2|1	0|0	DENND5A|DENND5A	9123871|9123871	0.008000|0.008000	0.16893|0.16893	0.906000|0.906000	0.35671|0.35671	0.985000|0.985000	0.73830|0.73830	-0.917000|-0.917000	0.04025|0.04025	-1.192000|-1.192000	0.02691|0.02691	-1.275000|-1.275000	0.01399|0.01399	CAT|ATG		PASS	0.488	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		87	95	87	95	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26584733	26584733	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:26584733G>A	ENST00000455601.2	-	3	892	c.774C>T	c.(772-774)taC>taT	p.Y258Y	MUC15_ENST00000281268.8_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.Y285Y|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Silent_p.Y285Y	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	258					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y258Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CACACAACAAGTAGCCCACAA	0.383																																						uc001mqx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(772-774)TAC>TAT		mucin 15 isoform b							116.0	119.0	118.0					11																	26584733		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26584733G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.774C>T	11.37:g.26584733G>A						ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.Y285Y|MUC15_uc001mqy.2_Intron	p.Y258Y	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			3	1040	-			258			Cytoplasmic (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.774C>T	CCDS7859.1																																																																																				PASS	0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		39	50	39	50	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30974037	30974037	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:30974037C>T	ENST00000597505.1	-	19	2669	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.K509K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTAGGTAAGCTTGTTCCATA	0.423																																						uc009yjk.1																			1	Substitution - coding silent(1)		lung(1)								c.(1012-1014)AAG>AAA		RecName: Full=Doublecortin domain-containing protein 5;							150.0	140.0	143.0					11																	30974037		1902	4122	6024	SO:0001819	synonymous_variant	0							g.chr11:30974037C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2670G>A	11.37:g.30974037C>T						uc009yjl.1_Intron|DCDC1_uc001msu.1_Silent_p.K509K	p.K338K							9	1083	-								A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37	c.1014G>A																																																																																					PASS	0.423	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		13	26	13	26	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33564652	33564652	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:33564652G>T	ENST00000321505.4	+	1	832	c.652G>T	c.(652-654)Gcc>Tcc	p.A218S	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A218S|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A218S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	218						integral component of membrane (GO:0016021)		p.A218S(2)									AGAGAATCATGCCTCCCCATC	0.557											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mup.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(652-654)GCC>TCC		hypothetical protein LOC25758							96.0	95.0	95.0					11																	33564652		1974	4155	6129	SO:0001583	missense	25758					integral to membrane		g.chr11:33564652G>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.652G>T	11.37:g.33564652G>T	ENSP00000315295:p.Ala218Ser		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Missense_Mutation_p.A218S	p.A218S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	776	+			218					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.652G>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966890	0.34659	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.51	2.44	0.29823	.	0.454109	0.18456	N	0.140678	T	0.24044	0.0582	L	0.29908	0.895	0.09310	N	1	B;P	0.49559	0.295;0.925	B;P	0.44561	0.081;0.453	T	0.09443	-1.0674	9	0.10902	T	0.67	-3.6249	8.267	0.31819	0.0817:0.2971:0.6212:0.0	.	218;218	E9PAT2;Q6ZVL6-2	.;.	S	218;218;218;58	.	ENSP00000265654:A218S	A	+	1	0	C11orf41	33521228	0.000000	0.05858	0.024000	0.17045	0.060000	0.15804	0.650000	0.24858	0.685000	0.31468	0.555000	0.69702	GCC		PASS	0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		45	58	45	58	---	---	---	---
HSD17B12	51144	broad.mit.edu	37	11	43775641	43775641	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:43775641G>T	ENST00000278353.4	+	3	372	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	HSD17B12_ENST00000529261.1_3'UTR|HSD17B12_ENST00000395700.4_Missense_Mutation_p.D85Y	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	85					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)	p.D85Y(1)		endometrium(2)|large_intestine(4)|lung(4)	10						CAGATCAAAGGATAAACTTGA	0.358																																					Ovarian(58;548 1143 13948 16572 34258)	uc001mxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GAT>TAT		hydroxysteroid (17-beta) dehydrogenase 12							147.0	151.0	150.0					11																	43775641		2203	4300	6503	SO:0001583	missense	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43775641G>T	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.253G>T	11.37:g.43775641G>T	ENSP00000278353:p.Asp85Tyr					HSD17B12_uc001mxp.2_RNA	p.D85Y	NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN			3	488	+			85					A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	ENST00000278353.4	37	c.253G>T	CCDS7905.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038073	0.75617	.	.	ENSG00000149084	ENST00000278353;ENST00000395700	T;D	0.88201	0.54;-2.35	5.46	5.46	0.80206	NAD(P)-binding domain (1);	0.095940	0.64402	D	0.000001	D	0.90532	0.7033	M	0.82323	2.585	0.46499	D	0.99907	B	0.32467	0.372	B	0.35727	0.209	D	0.90398	0.4400	10	0.56958	D	0.05	-13.5274	16.2239	0.82280	0.0:0.0:1.0:0.0	.	85	Q53GQ0	DHB12_HUMAN	Y	85	ENSP00000278353:D85Y;ENSP00000379052:D85Y	ENSP00000278353:D85Y	D	+	1	0	HSD17B12	43732217	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.018000	0.70811	2.570000	0.86706	0.591000	0.81541	GAT		PASS	0.358	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			19	83	19	83	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346875	48346875	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:48346875G>C	ENST00000319856.4	+	1	404	c.383G>C	c.(382-384)gGa>gCa	p.G128A		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G128A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGCTCTTTGGAGCTCATTTT	0.458																																						uc010rhv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(382-384)GGA>GCA		olfactory receptor, family 4, subfamily C,							268.0	255.0	259.0					11																	48346875		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346875G>C	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.383G>C	11.37:g.48346875G>C	ENSP00000321419:p.Gly128Ala						p.G128A	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	383	+			101			Helical; Name=3; (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.383G>C	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	0.747	-0.774310	0.02951	.	.	ENSG00000176547	ENST00000319856	T	0.01068	5.38	5.78	-3.3	0.05003	GPCR, rhodopsin-like superfamily (1);	0.785035	0.11111	N	0.598598	T	0.00524	0.0017	N	0.01761	-0.735	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.45512	-0.9256	10	0.09590	T	0.72	.	10.376	0.44081	0.0:0.2487:0.1733:0.578	.	101	Q8NH37	OR4C3_HUMAN	A	128	ENSP00000321419:G128A	ENSP00000321419:G128A	G	+	2	0	OR4C3	48303451	0.000000	0.05858	0.115000	0.21578	0.987000	0.75469	0.031000	0.13710	-0.409000	0.07553	0.478000	0.44815	GGA		PASS	0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		6	120	6	120	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49207291	49207291	+	Silent	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:49207291A>T	ENST00000256999.2	-	6	1016	c.756T>A	c.(754-756)ggT>ggA	p.G252G	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Silent_p.G237G|FOLH1_ENST00000356696.3_Silent_p.G252G|FOLH1_ENST00000340334.7_Silent_p.G237G	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	252					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.G252G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CACGCTGGACACCACCTCCAG	0.498																																						uc001ngy.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(754-756)GGT>GGA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						51.0	59.0	56.0					11																	49207291		2201	4294	6495	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207291A>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.756T>A	11.37:g.49207291A>T						FOLH1_uc001ngz.2_Silent_p.G252G|FOLH1_uc009yly.2_Silent_p.G237G|FOLH1_uc009ylz.2_Silent_p.G237G|FOLH1_uc009yma.2_Intron	p.G252G	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			6	1017	-			252			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.756T>A	CCDS7946.1																																																																																				PASS	0.498	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		6	30	6	30	---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55032605	55032605	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:55032605C>G	ENST00000417545.2	+	2	360	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	76						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L92V(1)|p.L76V(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GATGGCTTCCCTTGCCAGAAA	0.448																																						uc010rid.1																			2	Substitution - Missense(2)		lung(2)		0						c.(274-276)CTT>GTT		tripartite motif-containing 48							129.0	123.0	125.0					11																	55032605		2189	4258	6447	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032605C>G	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.274C>G	11.37:g.55032605C>G	ENSP00000402414:p.Leu92Val						p.L92V	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	360	+			76					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.274C>G	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	5.229	0.227750	0.09916	.	.	ENSG00000150244	ENST00000417545	D	0.84298	-1.83	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.75627	0.3875	L	0.50333	1.59	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.56360	-0.7992	9	0.18710	T	0.47	.	4.5706	0.12208	0.6307:0.3693:0.0:0.0	.	76	Q8IWZ4	TRI48_HUMAN	V	92	ENSP00000402414:L92V	ENSP00000402414:L92V	L	+	1	0	TRIM48	54789181	0.000000	0.05858	0.096000	0.21009	0.348000	0.29142	-0.886000	0.04157	-0.361000	0.08125	0.413000	0.27773	CTT		PASS	0.448	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	48	9	48	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579833	55579833	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:55579833G>T	ENST00000333973.2	+	1	980	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V297V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATAAAGATGTGAAAGAAGCTC	0.458																																						uc001nhw.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(889-891)GTG>GTT		olfactory receptor, family 5, subfamily L,							40.0	42.0	41.0					11																	55579833		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579833G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.891G>T	11.37:g.55579833G>T							p.V297V	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	891	+		all_epithelial(135;0.208)	297			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.891G>T	CCDS31509.1																																																																																				PASS	0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		7	30	7	30	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703750	55703750	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:55703750C>A	ENST00000301532.3	-	1	126	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	43					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G43W(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAATGTTCCCTATCAGAATT	0.393																																						uc010ris.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(127-129)GGG>TGG		olfactory receptor, family 5, subfamily I,							68.0	67.0	67.0					11																	55703750		2201	4295	6496	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703750C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.127G>T	11.37:g.55703750C>A	ENSP00000301532:p.Gly43Trp						p.G43W	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	127	-			43			Helical; Name=1; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.127G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106099	0.37145	.	.	ENSG00000167825	ENST00000301532	T	0.04502	3.61	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000187	T	0.25419	0.0618	M	0.85630	2.765	0.37903	D	0.931102	D	0.89917	1.0	D	0.97110	1.0	T	0.08576	-1.0715	10	0.72032	D	0.01	.	16.2739	0.82634	0.0:1.0:0.0:0.0	.	43	Q13606	OR5I1_HUMAN	W	43	ENSP00000301532:G43W	ENSP00000301532:G43W	G	-	1	0	OR5I1	55460326	0.039000	0.19947	0.033000	0.17914	0.152000	0.21847	3.292000	0.51772	2.496000	0.84212	0.637000	0.83480	GGG		PASS	0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		16	41	16	41	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798323	55798323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:55798323C>A	ENST00000313555.1	+	1	429	c.429C>A	c.(427-429)tgC>tgA	p.C143*		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C143*(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTGTGTCTGCTTCATTGTGT	0.468																																						uc010riw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(427-429)TGC>TGA		olfactory receptor, family 5, subfamily AS,							202.0	172.0	182.0					11																	55798323		2201	4296	6497	SO:0001587	stop_gained	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798323C>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.429C>A	11.37:g.55798323C>A	ENSP00000324111:p.Cys143*						p.C143*	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	429	+	Esophageal squamous(21;0.00693)		143			Helical; Name=4; (Potential).		Q6IFB8	Nonsense_Mutation	SNP	ENST00000313555.1	37	c.429C>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	7.638	0.680370	0.14907	.	.	ENSG00000181785	ENST00000313555	.	.	.	5.46	-2.92	0.05615	.	0.202876	0.24585	U	0.037275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	2.098	0.03673	0.1067:0.3588:0.1711:0.3635	.	.	.	.	X	143	.	ENSP00000324111:C143X	C	+	3	2	OR5AS1	55554899	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-1.198000	0.03035	-0.330000	0.08514	0.643000	0.83706	TGC		PASS	0.468	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		27	36	27	36	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55873110	55873110	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:55873110C>T	ENST00000313503.1	+	1	592	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L198L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CACCGAAATCCTGATATTCAT	0.388										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(592-594)CTG>TTG		olfactory receptor, family 8, subfamily H,							219.0	203.0	209.0					11																	55873110		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873110C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.592C>T	11.37:g.55873110C>T		HNSCC(53;0.14)					p.L198L	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	592	+	Esophageal squamous(21;0.00693)		198			Helical; Name=5; (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.592C>T	CCDS31518.1																																																																																				PASS	0.388	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		53	78	53	78	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944669	55944669	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:55944669C>T	ENST00000312298.1	+	1	576	c.576C>T	c.(574-576)acC>acT	p.T192T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTTCTGACACCTCCATGAATG	0.453																																						uc010rjb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(574-576)ACC>ACT		olfactory receptor, family 5, subfamily J,							172.0	135.0	148.0					11																	55944669		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944669C>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.576C>T	11.37:g.55944669C>T							p.T192T	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	576	+	Esophageal squamous(21;0.00693)		192			Extracellular (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.576C>T	CCDS31522.1																																																																																				PASS	0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		18	44	18	44	---	---	---	---
MS4A7	58475	broad.mit.edu	37	11	60156870	60156870	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:60156870G>A	ENST00000300184.3	+	5	543	c.347G>A	c.(346-348)aGc>aAc	p.S116N	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.S71N|MS4A7_ENST00000358246.1_Missense_Mutation_p.S71N	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	116						integral component of membrane (GO:0016021)		p.S116N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CAGGACCTGAGCAGCTTGACC	0.502																																						uc001npe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(346-348)AGC>AAC		membrane-spanning 4-domains, subfamily A, member							86.0	69.0	75.0					11																	60156870		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60156870G>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.347G>A	11.37:g.60156870G>A	ENSP00000300184:p.Ser116Asn					MS4A7_uc001npf.2_Missense_Mutation_p.S116N|MS4A7_uc001npg.2_Missense_Mutation_p.S71N|MS4A7_uc001nph.2_Missense_Mutation_p.S71N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.S71N	p.S116N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			5	492	+			116			Cytoplasmic (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.347G>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.949059	0.34377	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02421	4.3;4.3;4.3;4.3;4.3	3.37	2.45	0.29901	.	0.519233	0.20383	N	0.093407	T	0.02929	0.0087	L	0.48174	1.505	0.58432	D	0.99999	B;B;B	0.31413	0.1;0.176;0.322	B;B;B	0.30029	0.066;0.067;0.11	T	0.52997	-0.8500	10	0.29301	T	0.29	-13.9353	6.6535	0.22975	0.1303:0.0:0.8697:0.0	.	71;71;116	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	N	116;71;71;71;52	ENSP00000300184:S116N;ENSP00000350983:S71N;ENSP00000434637:S71N;ENSP00000433861:S71N;ENSP00000434819:S52N	ENSP00000300184:S116N	S	+	2	0	MS4A7	59913446	0.999000	0.42202	0.730000	0.30809	0.964000	0.63967	2.162000	0.42367	1.001000	0.39076	0.563000	0.77884	AGC		PASS	0.502	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			7	23	7	23	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183336	60183336	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:60183336G>T	ENST00000300187.6	+	5	1172	c.895G>T	c.(895-897)Gcg>Tcg	p.A299S	MS4A14_ENST00000531787.1_Missense_Mutation_p.A187S|MS4A14_ENST00000531783.1_Missense_Mutation_p.A332S|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.A282S	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	299						integral component of membrane (GO:0016021)		p.A299S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGACCAAGCTGCGTCACTCCA	0.423																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(895-897)GCG>TCG		membrane-spanning 4-domains, subfamily A, member							66.0	62.0	64.0					11																	60183336		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183336G>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.895G>T	11.37:g.60183336G>T	ENSP00000300187:p.Ala299Ser					MS4A14_uc001npi.2_Missense_Mutation_p.A187S|MS4A14_uc001npn.2_Missense_Mutation_p.A37S|MS4A14_uc001npk.2_Missense_Mutation_p.A282S|MS4A14_uc001npl.2_Missense_Mutation_p.A37S|MS4A14_uc001npm.2_Missense_Mutation_p.A37S	p.A299S	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1460	+			299					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.895G>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	7.573	0.667126	0.14710	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.33438	1.41;2.62;1.42;3.0	3.58	-0.267	0.12938	.	8.587080	0.00166	N	0.000001	T	0.16428	0.0395	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14727	-1.0462	10	0.32370	T	0.25	1.4612	4.7845	0.13219	0.1762:0.0:0.4342:0.3897	.	282;299	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	S	187;299;282;332	ENSP00000437222:A187S;ENSP00000300187:A299S;ENSP00000378453:A282S;ENSP00000433761:A332S	ENSP00000300187:A299S	A	+	1	0	MS4A14	59939912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	-0.065000	0.13021	-0.271000	0.10264	GCG		PASS	0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			13	37	13	37	---	---	---	---
RAD9A	5883	broad.mit.edu	37	11	67164770	67164770	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:67164770C>A	ENST00000307980.2	+	10	1086	c.993C>A	c.(991-993)ccC>ccA	p.P331P	RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR|PPP1CA_ENST00000532446.1_5'Flank	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	331	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.P331P(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CACCTGGCCCCCAGCCCCCCA	0.602								Other conserved DNA damage response genes																														uc001okr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(991-993)CCC>CCA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD9 homolog							16.0	18.0	17.0					11																	67164770		2198	4295	6493	SO:0001819	synonymous_variant	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67164770C>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.993C>A	11.37:g.67164770C>A						RAD9A_uc001oks.2_Silent_p.P188P	p.P331P	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		10	1086	+			331			Sufficient for interaction with ABL1.		B2RCZ8|Q6FI29|Q96C41	Silent	SNP	ENST00000307980.2	37	c.993C>A	CCDS8159.1																																																																																				PASS	0.602	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		3	5	3	5	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68673578	68673578	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:68673578G>T	ENST00000255078.3	+	2	239	c.128G>T	c.(127-129)cGa>cTa	p.R43L	MRPL21_ENST00000450904.2_5'Flank|MRPL21_ENST00000362034.2_5'Flank|IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R43L|MRPL21_ENST00000567045.1_5'Flank	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	43					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R43L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCCAGAGCCGAGGCGTGTGT	0.572																																						uc001ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CGA>CTA		immunoglobulin mu binding protein 2							98.0	101.0	100.0					11																	68673578		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68673578G>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.128G>T	11.37:g.68673578G>T	ENSP00000255078:p.Arg43Leu					IGHMBP2_uc001ooj.1_RNA|MRPL21_uc001ooh.2_5'Flank|MRPL21_uc001ooi.2_5'Flank|MRPL21_uc010rqe.1_5'Flank	p.R43L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		2	230	+			43					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.128G>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906156	0.52333	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.90324	-2.65;-0.19	3.39	3.39	0.38822	.	0.161403	0.40144	N	0.001161	D	0.90038	0.6889	M	0.85859	2.78	0.40001	D	0.975164	B	0.22211	0.066	B	0.17979	0.02	D	0.88416	0.3025	10	0.32370	T	0.25	-14.2914	12.6349	0.56677	0.0:0.0:1.0:0.0	.	43	P38935	SMBP2_HUMAN	L	43	ENSP00000255078:R43L;ENSP00000440465:R43L	ENSP00000255078:R43L	R	+	2	0	IGHMBP2	68430154	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.877000	0.48506	1.891000	0.54761	0.561000	0.74099	CGA		PASS	0.572	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		6	73	6	73	---	---	---	---
CAPN5	726	broad.mit.edu	37	11	76831861	76831861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:76831861G>T	ENST00000278559.3	+	10	1582	c.1393G>T	c.(1393-1395)Gag>Tag	p.E465*	CAPN5_ENST00000529629.1_Nonsense_Mutation_p.E465*|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.E505*	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	465	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.E465K(1)|p.E465*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGACCAGCCCGAGGGCCGCTA	0.617																																						uc001oxx.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|breast(1)		0						c.(1393-1395)GAG>TAG		calpain 5							167.0	146.0	153.0					11																	76831861		2200	4292	6492	SO:0001587	stop_gained	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76831861G>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1393G>T	11.37:g.76831861G>T	ENSP00000278559:p.Glu465*					CAPN5_uc009yup.2_Nonsense_Mutation_p.E505*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.E501*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.E505*|CAPN5_uc001oya.2_Nonsense_Mutation_p.E27*	p.E465*	NM_004055	NP_004046	O15484	CAN5_HUMAN			10	1578	+			465			Domain III.		O00263	Nonsense_Mutation	SNP	ENST00000278559.3	37	c.1393G>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	39	7.747516	0.98468	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	.	.	.	5.03	4.09	0.47781	.	0.219986	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3554	0.66733	0.0:0.1493:0.8507:0.0	.	.	.	.	X	465;505;465;505;505	.	ENSP00000278559:E465X	E	+	1	0	CAPN5	76509509	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	4.385000	0.59613	1.057000	0.40506	0.462000	0.41574	GAG		PASS	0.617	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		8	63	8	63	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89069063	89069063	+	Silent	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:89069063T>A	ENST00000263317.4	-	17	1804	c.1566A>T	c.(1564-1566)ggA>ggT	p.G522G	NOX4_ENST00000343727.5_Silent_p.G498G|NOX4_ENST00000413594.2_Silent_p.G543G|NOX4_ENST00000527956.1_Silent_p.G498G|NOX4_ENST00000528341.1_Silent_p.G497G|NOX4_ENST00000531342.1_Silent_p.G175G|NOX4_ENST00000375979.3_Silent_p.G215G|NOX4_ENST00000532825.1_Silent_p.G458G|NOX4_ENST00000525196.1_Silent_p.G286G|NOX4_ENST00000424319.1_Silent_p.G498G|NOX4_ENST00000542487.1_Silent_p.G498G|NOX4_ENST00000534731.1_Silent_p.G482G|NOX4_ENST00000535633.1_Silent_p.G498G|NOX4_ENST00000527626.1_Silent_p.G335G			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	522	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.G522G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCGAGGACGTCCTATAAACA	0.303																																						uc001pct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1564-1566)GGA>GGT		NADPH oxidase 4 isoform a							76.0	77.0	77.0					11																	89069063		2201	4296	6497	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89069063T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1566A>T	11.37:g.89069063T>A						NOX4_uc009yvr.2_Silent_p.G497G|NOX4_uc001pcu.2_Silent_p.G448G|NOX4_uc001pcw.2_Silent_p.G215G|NOX4_uc001pcx.2_Silent_p.G175G|NOX4_uc001pcv.2_Silent_p.G482G|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Silent_p.G335G|NOX4_uc009yvp.2_Silent_p.G286G|NOX4_uc010rtv.1_Silent_p.G458G|NOX4_uc009yvq.2_Silent_p.G498G	p.G522G	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			17	1805	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	522			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.1566A>T	CCDS8285.1																																																																																				PASS	0.303	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		6	49	6	49	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95713100	95713100	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:95713100G>A	ENST00000524717.1	-	5	3767	c.2483C>T	c.(2482-2484)tCt>tTt	p.S828F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	828					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.S828F(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGCCTGGTTAGAGTTTAAGCT	0.408			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Missense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2482-2484)TCT>TTT		mastermind-like 2							116.0	110.0	112.0					11																	95713100		1881	4106	5987	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95713100G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2483C>T	11.37:g.95713100G>A	ENSP00000434552:p.Ser828Phe						p.S828F	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			5	3768	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	828					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2483C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061072	0.36373	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.49720	0.77;0.77	5.33	5.33	0.75918	.	0.197022	0.36519	N	0.002558	T	0.52125	0.1715	L	0.29908	0.895	0.39563	D	0.969161	D	0.71674	0.998	D	0.64687	0.928	T	0.41610	-0.9499	10	0.19147	T	0.46	-18.8273	14.2473	0.65997	0.0:0.0:0.8509:0.1491	.	828	Q8IZL2	MAML2_HUMAN	F	828	ENSP00000434552:S828F;ENSP00000412394:S828F	ENSP00000412394:S828F	S	-	2	0	MAML2	95352748	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.981000	0.63819	2.655000	0.90218	0.650000	0.86243	TCT		PASS	0.408	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			16	16	16	16	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102988531	102988531	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:102988531C>G	ENST00000375735.2	+	6	1082	c.938C>G	c.(937-939)cCa>cGa	p.P313R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P313R|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.P313R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	313	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P313R(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCCTCATCCATGGAAAAAT	0.368																																						uc001pho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CCA>CGA		dynein, cytoplasmic 2, heavy chain 1							90.0	87.0	88.0					11																	102988531		1887	4128	6015	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102988531C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.938C>G	11.37:g.102988531C>G	ENSP00000364887:p.Pro313Arg					DYNC2H1_uc001phn.1_Missense_Mutation_p.P313R|DYNC2H1_uc009yxe.1_Missense_Mutation_p.P313R	p.P313R	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	6	1082	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	313			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.938C>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240487	0.22711	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.56103	0.48;0.48;0.48	5.26	4.35	0.52113	Dynein heavy chain, domain-1 (1);	0.653709	0.11393	N	0.568593	T	0.50497	0.1619	L	0.52126	1.63	0.38195	D	0.940033	B;B;B	0.33212	0.402;0.219;0.078	B;B;B	0.41666	0.165;0.363;0.068	T	0.41179	-0.9523	10	0.22109	T	0.4	.	7.734	0.28804	0.1332:0.723:0.0:0.1438	.	313;313;313	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	R	313	ENSP00000364887:P313R;ENSP00000334021:P313R;ENSP00000381167:P313R	ENSP00000334021:P313R	P	+	2	0	DYNC2H1	102493741	0.031000	0.19500	0.997000	0.53966	0.878000	0.50629	0.198000	0.17217	1.205000	0.43262	0.650000	0.86243	CCA		PASS	0.368	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	37	3	37	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107299812	107299812	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:107299812C>A	ENST00000282251.5	-	8	1173	c.1146G>T	c.(1144-1146)aaG>aaT	p.K382N	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K382N	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	382							catalytic activity (GO:0003824)	p.K228N(1)|p.K382N(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATTTTCTGCCCTTGCTGTGAA	0.398																																						uc010rvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1144-1146)AAG>AAT		CWF19-like 2, cell cycle control							88.0	88.0	88.0					11																	107299812		2201	4297	6498	SO:0001583	missense	143884						catalytic activity	g.chr11:107299812C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1146G>T	11.37:g.107299812C>A	ENSP00000282251:p.Lys382Asn					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.K382N	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1176	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	382					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1146G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150318	0.06585	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23147	1.92;1.92	5.12	3.23	0.37069	.	0.999489	0.08100	N	0.997971	T	0.26268	0.0641	M	0.63428	1.95	0.09310	N	1	B	0.25007	0.116	B	0.21546	0.035	T	0.28490	-1.0042	10	0.26408	T	0.33	-10.1152	7.5326	0.27691	0.0:0.7153:0.0:0.2847	.	382	Q2TBE0	C19L2_HUMAN	N	382	ENSP00000282251:K382N;ENSP00000387533:K382N	ENSP00000282251:K382N	K	-	3	2	CWF19L2	106805022	0.001000	0.12720	0.003000	0.11579	0.077000	0.17291	0.925000	0.28791	0.805000	0.34159	0.591000	0.81541	AAG		PASS	0.398	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		21	35	21	35	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108547817	108547817	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:108547817G>T	ENST00000322536.3	+	4	513	c.384G>T	c.(382-384)ctG>ctT	p.L128L	DDX10_ENST00000526794.1_Silent_p.L128L	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	128	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L128L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTGAGGTGCTGGAAGCCTTAT	0.458			T	NUP98	AML*																																	uc001pkm.2				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)|prostate(1)	4						c.(382-384)CTG>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							111.0	105.0	107.0					11																	108547817		2201	4298	6499	SO:0001819	synonymous_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108547817G>T	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.384G>T	11.37:g.108547817G>T						DDX10_uc001pkl.1_Silent_p.L128L	p.L128L	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	4	449	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	128			Helicase ATP-binding.		B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	c.384G>T	CCDS8342.1																																																																																				PASS	0.458	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		5	48	5	48	---	---	---	---
TMEM225	338661	broad.mit.edu	37	11	123755245	123755245	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:123755245G>C	ENST00000375026.2	-	2	496	c.280C>G	c.(280-282)Caa>Gaa	p.Q94E		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	94					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q94E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TATTTATTTTGAGGAATCAGA	0.428																																						uc001pzi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(280-282)CAA>GAA		transmembrane protein 225							112.0	118.0	116.0					11																	123755245		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123755245G>C	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.280C>G	11.37:g.123755245G>C	ENSP00000364166:p.Gln94Glu						p.Q94E	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			2	488	-			94						Missense_Mutation	SNP	ENST00000375026.2	37	c.280C>G	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	3.951	-0.012211	0.07727	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.70164	-0.46;-0.46	5.17	-0.403	0.12400	.	0.453729	0.18966	N	0.126243	T	0.47284	0.1437	N	0.19112	0.55	0.09310	N	0.999999	B	0.10296	0.003	B	0.15484	0.013	T	0.39941	-0.9589	10	0.46703	T	0.11	-3.3319	10.2017	0.43087	0.0809:0.5489:0.3701:0.0	.	94	Q6GV28	TM225_HUMAN	E	94;44	ENSP00000364166:Q94E;ENSP00000431282:Q44E	ENSP00000364166:Q94E	Q	-	1	0	TMEM225	123260455	0.297000	0.24408	0.658000	0.29665	0.025000	0.11179	0.265000	0.18515	0.056000	0.16144	-0.819000	0.03115	CAA		PASS	0.428	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		16	19	16	19	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123901086	123901086	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:123901086C>A	ENST00000431524.1	+	1	790	c.757C>A	c.(757-759)Cct>Act	p.P253T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P253T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTCTTTGGCCCTGGTCTTTT	0.552																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(757-759)CCT>ACT		olfactory receptor, family 10, subfamily G,							135.0	118.0	123.0					11																	123901086		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901086C>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.757C>A	11.37:g.123901086C>A	ENSP00000389072:p.Pro253Thr						p.P253T	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	757	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	253			Helical; Name=6; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.757C>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	3.498	-0.102399	0.06967	.	.	ENSG00000234560	ENST00000431524	T	0.00022	9.01	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000686	T	0.00178	0.0005	N	0.17564	0.495	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59537	-0.7436	10	0.54805	T	0.06	.	8.2005	0.31421	0.4295:0.5705:0.0:0.0	.	253	Q8NGN5	O10G8_HUMAN	T	253	ENSP00000389072:P253T	ENSP00000389072:P253T	P	+	1	0	OR10G8	123406296	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-1.097000	0.03349	1.611000	0.50210	0.557000	0.71058	CCT		PASS	0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		6	35	6	35	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294600	124294600	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:124294600G>T	ENST00000356130.3	-	1	189	c.168C>A	c.(166-168)caC>caA	p.H56Q		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H56Q(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATGGGGGTGTGAAGGCTAG	0.418																																						uc010sak.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(166-168)CAC>CAA		olfactory receptor, family 8, subfamily B,							83.0	79.0	80.0					11																	124294600		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294600G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.168C>A	11.37:g.124294600G>T	ENSP00000348449:p.His56Gln						p.H56Q	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	168	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	56			Helical; Name=2; (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.168C>A	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	16.21	3.059207	0.55325	.	.	ENSG00000198657	ENST00000356130	T	0.15952	2.38	4.62	-2.74	0.05932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.20861	0.0502	M	0.66439	2.03	0.34404	D	0.695648	P	0.45672	0.864	P	0.49332	0.607	T	0.17531	-1.0366	10	0.66056	D	0.02	.	5.9842	0.19423	0.4956:0.0:0.3789:0.1255	.	56	Q96RC9	OR8B4_HUMAN	Q	56	ENSP00000348449:H56Q	ENSP00000348449:H56Q	H	-	3	2	OR8B4	123799810	0.999000	0.42202	0.960000	0.40013	0.994000	0.84299	0.576000	0.23744	-0.648000	0.05437	0.655000	0.94253	CAC		PASS	0.418	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		16	27	16	27	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124763909	124763909	+	Missense_Mutation	SNP	T	T	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:124763909T>G	ENST00000306534.3	-	9	1836	c.1351A>C	c.(1351-1353)Agt>Cgt	p.S451R	ROBO4_ENST00000533054.1_Missense_Mutation_p.S306R|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	451					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S451R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCATGCTCACTGGGTTCTTGG	0.627																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1351-1353)AGT>CGT		roundabout homolog 4, magic roundabout							34.0	31.0	32.0					11																	124763909		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124763909T>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1351A>C	11.37:g.124763909T>G	ENSP00000304945:p.Ser451Arg					ROBO4_uc010sas.1_Missense_Mutation_p.S306R|ROBO4_uc001qbh.2_Missense_Mutation_p.S341R|ROBO4_uc001qbi.2_Missense_Mutation_p.S9R|ROBO4_uc010sat.1_Missense_Mutation_p.S9R	p.S451R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	9	1491	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	451					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1351A>C	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	T	5.963	0.361712	0.11296	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.65549	-0.16;0.23	4.9	2.5	0.30297	.	0.906329	0.09235	N	0.830097	T	0.44138	0.1279	L	0.31294	0.92	0.09310	N	1	B;B;B	0.18863	0.001;0.004;0.031	B;B;B	0.10450	0.002;0.004;0.005	T	0.28202	-1.0051	10	0.23302	T	0.38	.	2.911	0.05737	0.0:0.1579:0.2643:0.5778	.	451;341;451	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	R	451;341;306	ENSP00000304945:S451R;ENSP00000437129:S306R	ENSP00000304945:S451R	S	-	1	0	ROBO4	124269119	0.147000	0.22687	0.018000	0.16275	0.039000	0.13416	0.367000	0.20382	0.708000	0.31955	-0.488000	0.04728	AGT		PASS	0.627	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		6	6	6	6	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125472288	125472288	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:125472288G>A	ENST00000529196.1	+	5	446	c.240G>A	c.(238-240)ttG>ttA	p.L80L	STT3A_ENST00000392708.4_Silent_p.L80L|STT3A_ENST00000531491.1_5'UTR			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	80					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.L80L(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GGTACCCTTTGGGACGAATCA	0.393																																						uc001qcd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)TTG>TTA		integral membrane protein 1							65.0	63.0	64.0					11																	125472288		2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472288G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.240G>A	11.37:g.125472288G>A						STT3A_uc009zbm.2_Silent_p.L80L|STT3A_uc001qce.2_Silent_p.L80L|STT3A_uc010sbg.1_5'UTR	p.L80L	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	4	350	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	80			Lumenal (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.240G>A	CCDS8458.1																																																																																				PASS	0.393	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		5	21	5	21	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134038450	134038450	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr11:134038450C>A	ENST00000534548.2	-	26	3351	c.3287G>T	c.(3286-3288)cGa>cTa	p.R1096L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1096					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.R1096L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GATTTTCATTCGTCTCTCTTT	0.443																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3286-3288)CGA>CTA		non-SMC condensin II complex, subunit D3							136.0	131.0	133.0					11																	134038450		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134038450C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3287G>T	11.37:g.134038450C>A	ENSP00000433681:p.Arg1096Leu					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_Intron|NCAPD3_uc001qhc.1_Missense_Mutation_p.R46L	p.R1096L	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	26	3893	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1096					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3287G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440194	0.96168	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.58358	0.34;0.34	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82076	-0.0636	9	.	.	.	-14.6857	19.9025	0.96993	0.0:1.0:0.0:0.0	.	1096;156	P42695;Q96FA6	CNDD3_HUMAN;.	L	1096;132	ENSP00000433681:R1096L;ENSP00000435173:R132L	.	R	-	2	0	NCAPD3	133543660	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.527000	0.81931	2.722000	0.93159	0.655000	0.94253	CGA		PASS	0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		5	28	5	28	---	---	---	---
SLC6A12	6539	broad.mit.edu	37	12	319118	319118	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:319118G>T	ENST00000428720.1	-	3	778	c.35C>A	c.(34-36)cCt>cAt	p.P12H	SLC6A12_ENST00000359674.4_Missense_Mutation_p.P12H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P12H|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P12H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P12H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	12					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P12H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GACTGCAGGAGGCCCACACTC	0.622																																						uc001qhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)CCT>CAT		solute carrier family 6 (neurotransmitter							88.0	77.0	80.0					12																	319118		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:319118G>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.35C>A	12.37:g.319118G>T	ENSP00000388184:p.Pro12His					SLC6A12_uc001qia.2_Missense_Mutation_p.P12H|SLC6A12_uc001qib.2_Missense_Mutation_p.P12H|SLC6A12_uc009zdh.1_Missense_Mutation_p.P12H|SLC6A12_uc009zdi.1_RNA	p.P12H	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		4	578	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		12			Cytoplasmic (Potential).		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.35C>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807194	0.16467	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793;ENST00000535347	T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.39;0.76	5.41	0.36	0.16097	.	1.301920	0.04938	N	0.458170	T	0.44891	0.1315	N	0.08118	0	0.09310	N	1	P	0.35923	0.528	B	0.30495	0.116	T	0.32052	-0.9921	10	0.35671	T	0.21	.	2.6192	0.04912	0.2187:0.1257:0.5259:0.1297	.	12	P48065	S6A12_HUMAN	H	12	ENSP00000352702:P12H;ENSP00000380464:P12H;ENSP00000388184:P12H;ENSP00000399136:P12H;ENSP00000444268:P12H;ENSP00000439351:P12H;ENSP00000446082:P12H	ENSP00000352702:P12H	P	-	2	0	SLC6A12	189379	0.791000	0.28800	0.001000	0.08648	0.084000	0.17831	1.226000	0.32563	-0.214000	0.10078	0.563000	0.77884	CCT		PASS	0.622	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		16	37	16	37	---	---	---	---
NRIP2	83714	broad.mit.edu	37	12	2943895	2943895	+	Silent	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:2943895G>C	ENST00000337508.4	-	1	295	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	85					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)	p.L85L(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGGCCTGTTTGAGCCGGCGCT	0.657																																						uc001qlc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(253-255)CTC>CTG		nuclear receptor interacting protein 2							99.0	101.0	101.0					12																	2943895		2203	4300	6503	SO:0001819	synonymous_variant	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2943895G>C	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.255C>G	12.37:g.2943895G>C						NRIP2_uc010sed.1_Silent_p.L85L|uc009zdz.1_5'Flank	p.L85L	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	327	-			85					A2RRE3|B4DV61	Silent	SNP	ENST00000337508.4	37	c.255C>G	CCDS8514.1																																																																																				PASS	0.657	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		17	68	17	68	---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13220127	13220127	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:13220127C>G	ENST00000197268.8	+	7	1159	c.1039C>G	c.(1039-1041)Cag>Gag	p.Q347E		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	347						integral component of membrane (GO:0016021)		p.Q347E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CATTTTTGTTCAGGCCCAAAA	0.458																																						uc001rbi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1039-1041)CAG>GAG		hypothetical protein LOC57613							132.0	122.0	126.0					12																	13220127		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13220127C>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1039C>G	12.37:g.13220127C>G	ENSP00000197268:p.Gln347Glu					KIAA1467_uc009zhx.1_RNA	p.Q347E	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	7	1062	+		Prostate(47;0.184)	347					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.1039C>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675148	0.67928	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.44	5.44	0.79542	.	0.180345	0.50627	D	0.000119	T	0.74566	0.3733	M	0.72118	2.19	0.49130	D	0.999754	D	0.61697	0.99	P	0.60236	0.871	T	0.70528	-0.4847	9	0.21014	T	0.42	-22.9045	17.4632	0.87625	0.0:1.0:0.0:0.0	.	347	A2RU67	K1467_HUMAN	E	347;123	.	ENSP00000197268:Q347E	Q	+	1	0	KIAA1467	13111394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.394000	0.52551	2.545000	0.85829	0.655000	0.94253	CAG		PASS	0.458	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		32	49	32	49	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19440426	19440426	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:19440426G>A	ENST00000299275.6	+	12	1787	c.1781G>A	c.(1780-1782)aGa>aAa	p.R594K	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R486K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R486K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R594K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R352K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R594K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R594K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R600K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R594K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.R594K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	594					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.R600K(1)|p.R594K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTGCCTGACAGAAGGTCAGTG	0.388																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1780-1782)AGA>AAA		pleckstrin homology domain containing, family A							115.0	115.0	115.0					12																	19440426		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19440426G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1781G>A	12.37:g.19440426G>A	ENSP00000299275:p.Arg594Lys					PLEKHA5_uc010sie.1_Missense_Mutation_p.R600K|PLEKHA5_uc001rea.2_Missense_Mutation_p.R594K|PLEKHA5_uc009zin.2_Missense_Mutation_p.R352K|PLEKHA5_uc010sif.1_Missense_Mutation_p.R486K|PLEKHA5_uc010sig.1_Missense_Mutation_p.R486K|PLEKHA5_uc010sih.1_Missense_Mutation_p.R486K|PLEKHA5_uc001rec.1_Missense_Mutation_p.R282K	p.R594K	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			12	1867	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		594					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1781G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321824	0.95682	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.55413	2.4;0.52;2.4;2.4;0.52;2.4;2.4;0.52;1.35;1.35;2.4	5.86	5.86	0.93980	.	0.048774	0.85682	D	0.000000	T	0.77465	0.4134	M	0.84948	2.725	0.41272	D	0.986852	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.996;0.994;0.986;0.999	D;D;D;D;D;P;D	0.75484	0.968;0.962;0.942;0.986;0.977;0.704;0.982	T	0.79852	-0.1628	10	0.72032	D	0.01	-22.4576	20.1858	0.98214	0.0:0.0:1.0:0.0	.	594;486;486;600;600;594;594	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	K	594;594;594;601;594;600;594;352;594;486;486;486	ENSP00000325155:R594K;ENSP00000347560:R594K;ENSP00000352104:R594K;ENSP00000311239:R594K;ENSP00000404296:R600K;ENSP00000299275:R594K;ENSP00000440611:R352K;ENSP00000439673:R594K;ENSP00000400411:R486K;ENSP00000439837:R486K;ENSP00000440371:R486K	ENSP00000299275:R594K	R	+	2	0	PLEKHA5	19331693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.238000	0.89809	2.777000	0.95525	0.591000	0.81541	AGA		PASS	0.388	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		19	70	19	70	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22635541	22635541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:22635541C>A	ENST00000333957.4	-	14	1942	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*	C2CD5_ENST00000396028.2_Nonsense_Mutation_p.G554*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.G576*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.G563*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.G565*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.G378*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.G563*	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	563					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.G563*(1)|p.G378*(1)									ATTCTTAGTCCAAACAAAGCA	0.323																																						uc001rfq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1687-1689)GGA>TGA		hypothetical protein LOC9847							179.0	166.0	170.0					12																	22635541		2203	4300	6503	SO:0001587	stop_gained	9847						protein binding	g.chr12:22635541C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1687G>T	12.37:g.22635541C>A	ENSP00000334229:p.Gly563*					KIAA0528_uc010sir.1_Nonsense_Mutation_p.G378*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.G563*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.G565*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.G563*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.G554*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.G565*	p.G563*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			14	1915	-			563					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Nonsense_Mutation	SNP	ENST00000333957.4	37	c.1687G>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	39	7.333888	0.98217	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.6347	19.6014	0.95563	0.0:1.0:0.0:0.0	.	.	.	.	X	563;563;565;554;563;576;378	.	ENSP00000334229:G563X	G	-	1	0	KIAA0528	22526808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.109000	0.77062	2.622000	0.88805	0.650000	0.86243	GGA		PASS	0.323	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		43	45	43	45	---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44782229	44782229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:44782229C>A	ENST00000266534.3	+	8	1446	c.1319C>A	c.(1318-1320)tCa>tAa	p.S440*	TMEM117_ENST00000536799.1_Nonsense_Mutation_p.S336*|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	440						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S440*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAATCTCCATCAGAACATAGC	0.408																																						uc001rod.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1318-1320)TCA>TAA		transmembrane protein 117							119.0	116.0	117.0					12																	44782229		2203	4300	6503	SO:0001587	stop_gained	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782229C>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1319C>A	12.37:g.44782229C>A	ENSP00000266534:p.Ser440*					TMEM117_uc001roe.2_Nonsense_Mutation_p.S336*|TMEM117_uc009zkc.2_3'UTR	p.S440*	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1385	+	Lung SC(27;0.192)		440						Nonsense_Mutation	SNP	ENST00000266534.3	37	c.1319C>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609602	0.96637	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.91	19.9155	0.97058	0.0:1.0:0.0:0.0	.	.	.	.	X	440;336;188	.	ENSP00000266534:S440X	S	+	2	0	TMEM117	43068496	1.000000	0.71417	0.822000	0.32727	0.993000	0.82548	7.445000	0.80570	2.699000	0.92147	0.650000	0.86243	TCA		PASS	0.408	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		32	48	32	48	---	---	---	---
RPAP3	79657	broad.mit.edu	37	12	48090172	48090172	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:48090172G>A	ENST00000005386.3	-	5	547	c.432C>T	c.(430-432)ttC>ttT	p.F144F	RPAP3_ENST00000380650.4_Silent_p.F144F|RPAP3_ENST00000432584.3_5'UTR	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	144								p.F144F(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TTCCTTGTTTGAAGTATTTAT	0.373																																						uc001rpr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(430-432)TTC>TTT		RNA polymerase II associated protein 3 isoform							94.0	86.0	89.0					12																	48090172		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48090172G>A	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.432C>T	12.37:g.48090172G>A						RPAP3_uc010slk.1_5'UTR|RPAP3_uc001rps.2_Silent_p.F144F	p.F144F	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN			5	548	-	Lung SC(27;0.192)		144			TPR 2.		B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.432C>T	CCDS8753.1																																																																																				PASS	0.373	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		8	24	8	24	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54109789	54109789	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:54109789C>G	ENST00000550804.1	-	9	1108	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E265Q|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E350Q|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E350Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	350					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.E350Q(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTGCAAGCTCCTGGGCCCCT	0.597																																						uc001sef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)GAG>CAG		coiled-coil transcriptional coactivator isoform							38.0	41.0	40.0					12																	54109789		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54109789C>G	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1048G>C	12.37:g.54109789C>G	ENSP00000449960:p.Glu350Gln					CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.E265Q|CALCOCO1_uc010son.1_Missense_Mutation_p.E227Q|CALCOCO1_uc001seh.2_Missense_Mutation_p.E350Q|CALCOCO1_uc009znd.2_Missense_Mutation_p.E350Q|CALCOCO1_uc001seg.2_Missense_Mutation_p.E175Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.E343Q	p.E350Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			9	1192	-			350					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1048G>C	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874322	0.91664	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.05	5.05	0.67936	.	0.000000	0.45126	D	0.000394	T	0.31295	0.0792	L	0.58510	1.815	0.58432	D	0.999992	D;D;P;D;D;D	0.58268	0.979;0.972;0.949;0.982;0.972;0.959	P;P;P;P;P;P	0.60345	0.828;0.864;0.6;0.873;0.864;0.721	T	0.00371	-1.1782	10	0.46703	T	0.11	-24.8966	17.7333	0.88384	0.0:1.0:0.0:0.0	.	343;265;350;350;265;350	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	Q	27;265;350;288;350;350;343	ENSP00000397189:E265Q;ENSP00000262059:E350Q;ENSP00000447647:E350Q;ENSP00000449960:E350Q	ENSP00000262059:E350Q	E	-	1	0	CALCOCO1	52396056	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.704000	0.68347	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.597	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		3	11	3	11	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605310	57605310	+	Missense_Mutation	SNP	G	G	T	rs201059804		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:57605310G>T	ENST00000243077.3	+	85	13598	c.13132G>T	c.(13132-13134)Gtc>Ttc	p.V4378F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4378	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.V4378F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTGACCTGCGTCGGCCACTG	0.637																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(13132-13134)GTC>TTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						42.0	48.0	46.0					12																	57605310		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605310G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13132G>T	12.37:g.57605310G>T	ENSP00000243077:p.Val4378Phe						p.V4378F	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	85	13598	+			4378			Extracellular (Potential).|EGF-like 22.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13132G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	g	4.916	0.170296	0.09339	.	.	ENSG00000123384	ENST00000243077	T	0.11712	2.75	4.08	-2.28	0.06826	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	2.279820	0.02667	N	0.108185	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.23716	0.048	T	0.32322	-0.9911	10	0.10111	T	0.7	.	6.6511	0.22963	0.4587:0.0:0.4264:0.1148	.	4378	Q07954	LRP1_HUMAN	F	4378	ENSP00000243077:V4378F	ENSP00000243077:V4378F	V	+	1	0	LRP1	55891577	0.005000	0.15991	0.001000	0.08648	0.047000	0.14425	1.463000	0.35277	-1.241000	0.02526	-1.634000	0.00779	GTC		PASS	0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	11	8	11	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57662127	57662127	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:57662127C>T	ENST00000347140.3	-	18	2337	c.1947G>A	c.(1945-1947)gtG>gtA	p.V649V	R3HDM2_ENST00000358907.2_Silent_p.V649V|R3HDM2_ENST00000546843.1_5'UTR|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000413953.2_Silent_p.V376V|R3HDM2_ENST00000402412.1_Silent_p.V663V|R3HDM2_ENST00000403821.2_Silent_p.V683V|R3HDM2_ENST00000441731.2_Silent_p.V344V			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	649	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V649V(1)|p.V310V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGCTATAGTACACTGGTACCC	0.582																																						uc009zpm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1945-1947)GTG>GTA		R3H domain containing 2							107.0	86.0	93.0					12																	57662127		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57662127C>T	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1947G>A	12.37:g.57662127C>T						R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.V344V|R3HDM2_uc001snr.2_Silent_p.V376V|R3HDM2_uc001sns.2_Silent_p.V649V|R3HDM2_uc001snt.2_Silent_p.V663V|R3HDM2_uc009zpn.1_Intron	p.V649V	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			16	1982	-			649			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1947G>A	CCDS8937.2																																																																																				PASS	0.582	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		12	45	12	45	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70918334	70918334	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:70918334A>T	ENST00000261266.5	-	31	5917	c.5888T>A	c.(5887-5889)gTc>gAc	p.V1963D	RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.V2181D|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1873D|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.V1873D|RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.V2093D|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1873D	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1963	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1963D(2)|p.V2181D(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTCTGAGGACATCTCTTAC	0.433																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5887-5889)GTC>GAC		protein tyrosine phosphatase, receptor type, B							119.0	115.0	117.0					12																	70918334		1920	4136	6056	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70918334A>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5888T>A	12.37:g.70918334A>T	ENSP00000261266:p.Val1963Asp					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.V1873D|PTPRB_uc010stp.1_Missense_Mutation_p.V1873D|PTPRB_uc001swc.3_Missense_Mutation_p.V2181D|PTPRB_uc001swa.3_Missense_Mutation_p.V2093D	p.V1963D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		31	5918	-	Renal(347;0.236)		1963			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5888T>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727762	0.89390	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.997;0.996	T	0.01795	-1.1272	10	0.87932	D	0	.	15.9098	0.79463	1.0:0.0:0.0:0.0	.	1873;1873;2181;1963;2093	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	D	2181;1873;2093;1873;1873;1963	ENSP00000334928:V2181D;ENSP00000393028:V1873D;ENSP00000448058:V2093D;ENSP00000438927:V1873D;ENSP00000447302:V1873D;ENSP00000261266:V1963D	ENSP00000261266:V1963D	V	-	2	0	PTPRB	69204601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.923000	0.92808	2.158000	0.67659	0.455000	0.32223	GTC		PASS	0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			17	54	17	54	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77208951	77208951	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:77208951G>C	ENST00000426126.2	+	6	1218	c.569G>C	c.(568-570)gGa>gCa	p.G190A	ZDHHC17_ENST00000359019.4_Missense_Mutation_p.G140A|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G190A	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	190					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.G190A(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GATCAGAATGGAATGACGCCT	0.303																																						uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)GGA>GCA		huntingtin interacting protein 14							51.0	50.0	50.0					12																	77208951		1820	4063	5883	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77208951G>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.569G>C	12.37:g.77208951G>C	ENSP00000403397:p.Gly190Ala					ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	p.G190A	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			6	732	+			190			ANK 4.|Cytoplasmic (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.569G>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841966	0.91197	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000550876	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83653	0.5301	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85719	0.1324	10	0.52906	T	0.07	-9.9582	19.376	0.94508	0.0:0.0:1.0:0.0	.	190	Q8IUH5	ZDH17_HUMAN	A	190;190;140;27	ENSP00000403397:G190A;ENSP00000334868:G190A;ENSP00000351913:G140A;ENSP00000449734:G27A	ENSP00000334868:G190A	G	+	2	0	ZDHHC17	75733082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.577000	0.98196	2.579000	0.87056	0.557000	0.71058	GGA		PASS	0.303	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		4	4	4	4	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85441059	85441059	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:85441059G>T	ENST00000393217.2	+	6	550	c.489G>T	c.(487-489)gtG>gtT	p.V163V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	163	Glu-rich.							p.V163V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTGTGAAGTGGAAGAAAAAT	0.338																																						uc001tac.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(487-489)GTG>GTT		leucine-rich repeats and IQ motif containing 1							73.0	80.0	78.0					12																	85441059		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85441059G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.489G>T	12.37:g.85441059G>T						LRRIQ1_uc001tab.1_Silent_p.V163V|LRRIQ1_uc001taa.1_Silent_p.V163V|LRRIQ1_uc001tad.2_Silent_p.V71V	p.V163V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	6	600	+			163			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.489G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854628	0.17106	.	.	ENSG00000133640	ENST00000533414	.	.	.	5.08	-8.63	0.00878	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	.	3.187	0.06604	0.4878:0.0846:0.0961:0.3315	.	.	.	.	L	61	.	.	W	+	2	0	LRRIQ1	83965190	0.660000	0.27420	0.883000	0.34634	0.984000	0.73092	-0.519000	0.06260	-1.188000	0.02705	0.585000	0.79938	TGG		PASS	0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		5	62	5	62	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88420267	88420267	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:88420267C>G	ENST00000298699.2	-	3	311	c.131G>C	c.(130-132)aGc>aCc	p.S44T	C12orf50_ENST00000550553.1_Missense_Mutation_p.S44T|C12orf50_ENST00000546547.1_5'Flank	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	44								p.S44T(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GTACTCACTGCTACTTGGTGG	0.368																																						uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(130-132)AGC>ACC		hypothetical protein LOC160419							108.0	99.0	102.0					12																	88420267		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88420267C>G	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.131G>C	12.37:g.88420267C>G	ENSP00000298699:p.Ser44Thr					C12orf50_uc001tan.2_Missense_Mutation_p.S98T	p.S44T	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			3	299	-			44					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.131G>C	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827491	0.50845	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	T;T	0.33216	1.42;1.43	5.83	3.06	0.35304	.	0.135170	0.52532	D	0.000062	T	0.27663	0.0680	L	0.36672	1.1	0.38165	D	0.939147	P;P	0.49559	0.925;0.787	P;B	0.47162	0.54;0.359	T	0.05419	-1.0886	10	0.42905	T	0.14	.	8.8604	0.35253	0.0:0.7648:0.0:0.2352	.	98;44	G3V208;Q8NA57	.;CL050_HUMAN	T	44;44;98;44	ENSP00000298699:S44T;ENSP00000448344:S44T	ENSP00000298699:S44T	S	-	2	0	C12orf50	86944398	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	0.549000	0.23329	0.395000	0.25257	-0.251000	0.11542	AGC		PASS	0.368	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		10	24	10	24	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95611630	95611630	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:95611630A>G	ENST00000436874.1	+	1	109	c.4A>G	c.(4-6)Aca>Gca	p.T2A	FGD6_ENST00000546711.1_5'Flank|VEZT_ENST00000261219.6_5'UTR|FGD6_ENST00000549499.1_5'Flank|FGD6_ENST00000343958.4_5'Flank	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	2					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.T2A(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGAAGGATGACACCGGAGTT	0.582																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4-6)ACA>GCA		vezatin, adherens junctions transmembrane							136.0	147.0	143.0					12																	95611630		1976	4156	6132	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95611630A>G	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.4A>G	12.37:g.95611630A>G	ENSP00000410083:p.Thr2Ala					FGD6_uc001tdp.3_5'Flank|FGD6_uc009zsx.2_5'Flank|VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.T2A|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'Flank	p.T2A	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			1	109	+			2					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.4A>G	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531553	0.64972	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821	T;T;T	0.51817	2.11;0.69;0.92	4.84	4.84	0.62591	.	.	.	.	.	T	0.60261	0.2255	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.61589	-0.7032	9	0.51188	T	0.08	.	14.3689	0.66826	1.0:0.0:0.0:0.0	.	2	Q9HBM0	VEZA_HUMAN	A	2	ENSP00000410083:T2A;ENSP00000449591:T2A;ENSP00000449701:T2A	ENSP00000410083:T2A	T	+	1	0	VEZT	94135761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.889000	0.69766	1.926000	0.55796	0.374000	0.22700	ACA		PASS	0.582	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		13	15	13	15	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101368626	101368626	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:101368626A>T	ENST00000392977.3	+	7	771	c.561A>T	c.(559-561)agA>agT	p.R187S	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.R152S			Q32M45	ANO4_HUMAN	anoctamin 4	187					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R152S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTTCCAGGAGAAAAATCTATT	0.463										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(559-561)AGA>AGT		anoctamin 4							138.0	130.0	133.0					12																	101368626		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101368626A>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.561A>T	12.37:g.101368626A>T	ENSP00000376703:p.Arg187Ser	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.R152S|ANO4_uc001thx.2_Missense_Mutation_p.R187S	p.R187S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			7	1133	+			187			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.561A>T		.	.	.	.	.	.	.	.	.	.	A	18.84	3.710115	0.68730	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.64438	-0.1;-0.1	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.49350	1.555	0.80722	D	1	P;P	0.37688	0.605;0.481	B;B	0.36092	0.116;0.217	T	0.63042	-0.6725	10	0.59425	D	0.04	.	15.6392	0.76981	1.0:0.0:0.0:0.0	.	187;152	Q32M45;Q32M45-2	ANO4_HUMAN;.	S	152;187	ENSP00000376705:R152S;ENSP00000376703:R187S	ENSP00000376703:R187S	R	+	3	2	ANO4	99892757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.528000	0.67129	2.097000	0.63578	0.528000	0.53228	AGA		PASS	0.463	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		20	59	20	59	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104030921	104030921	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:104030921G>C	ENST00000388887.2	+	7	820	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_017564.9	NP_060034.9			stabilin 2									p.E206Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTCTGCCCAGAAAATTCCAG	0.453																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(616-618)GAA>CAA		stabilin 2 precursor							114.0	113.0	113.0					12																	104030921		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104030921G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.616G>C	12.37:g.104030921G>C	ENSP00000373539:p.Glu206Gln						p.E206Q	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			7	802	+			206			Extracellular (Potential).|EGF-like 3.			Missense_Mutation	SNP	ENST00000388887.2	37	c.616G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527684	0.44969	.	.	ENSG00000136011	ENST00000388887	T	0.08008	3.14	5.33	3.49	0.39957	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.252669	0.37669	N	0.001982	T	0.12689	0.0308	L	0.34521	1.04	0.29585	N	0.848831	D	0.76494	0.999	P	0.61800	0.894	T	0.05402	-1.0887	10	0.12766	T	0.61	.	10.3594	0.43984	0.0739:0.136:0.7901:0.0	.	206	Q8WWQ8	STAB2_HUMAN	Q	206	ENSP00000373539:E206Q	ENSP00000373539:E206Q	E	+	1	0	STAB2	102555051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.722000	0.54948	0.614000	0.30107	0.655000	0.94253	GAA		PASS	0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			35	39	35	39	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39587671	39587671	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:39587671A>T	ENST00000352251.3	-	11	2551	c.1718T>A	c.(1717-1719)gTt>gAt	p.V573D	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.V551D	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	573	Ser-rich.							p.V573D(1)									GCCACAGCTAACTGGCACTGA	0.557																																						uc001uwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1717-1719)GTT>GAT		hypothetical protein LOC80209 isoform 1							90.0	94.0	92.0					13																	39587671		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587671A>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1718T>A	13.37:g.39587671A>T	ENSP00000332034:p.Val573Asp					C13orf23_uc001uwz.2_Missense_Mutation_p.V551D	p.V573D	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	11	2591	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	573			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1718T>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792206	0.50102	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.34072	1.39;1.38	5.05	2.66	0.31614	.	.	.	.	.	T	0.27384	0.0672	L	0.29908	0.895	0.21950	N	0.999452	P;D	0.53151	0.744;0.958	B;P	0.45506	0.359;0.483	T	0.06899	-1.0801	8	.	.	.	-2.7698	6.5933	0.22659	0.6829:0.0:0.3171:0.0	.	551;573	A6NJ97;Q86XN7	.;PRSR1_HUMAN	D	573;551	ENSP00000332034:V573D;ENSP00000339123:V551D	.	V	-	2	0	PROSER1	38485671	0.026000	0.19158	0.003000	0.11579	0.388000	0.30384	0.402000	0.20965	0.398000	0.25338	0.459000	0.35465	GTT		PASS	0.557	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		30	30	30	30	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148757	45148757	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:45148757C>A	ENST00000458659.2	-	1	1944	c.1454G>T	c.(1453-1455)gGa>gTa	p.G485V	TSC22D1_ENST00000501704.2_Missense_Mutation_p.G485V|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	485					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G485V(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTCTCCACTTCCCACACTCTC	0.512																																						uc001uzn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1453-1455)GGA>GTA		TSC22 domain family, member 1 isoform 1							103.0	95.0	97.0					13																	45148757		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148757C>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1454G>T	13.37:g.45148757C>A	ENSP00000397435:p.Gly485Val					TSC22D1_uc001uzo.1_Missense_Mutation_p.G485V	p.G485V	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1945	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	485					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1454G>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414530	0.62511	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.33865	1.39	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000016	T	0.48502	0.1503	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.976	T	0.41858	-0.9485	10	0.42905	T	0.14	.	16.9691	0.86294	0.0:1.0:0.0:0.0	.	485;485	B3KRL7;Q15714	.;T22D1_HUMAN	V	485	ENSP00000397435:G485V	ENSP00000397435:G485V	G	-	2	0	TSC22D1	44046757	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.296000	0.78790	2.593000	0.87608	0.491000	0.48974	GGA		PASS	0.512	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		18	30	18	30	---	---	---	---
CYSLTR2	57105	broad.mit.edu	37	13	49281313	49281313	+	Silent	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:49281313C>G	ENST00000282018.3	+	1	363	c.360C>G	c.(358-360)gtC>gtG	p.V120V		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	120					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.V120V(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CCTTGTATGTCAACATGTACA	0.468																																						uc010acx.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(358-360)GTC>GTG		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						190.0	183.0	185.0					13																	49281313		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281313C>G	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.360C>G	13.37:g.49281313C>G						CYSLTR2_uc010acy.1_Silent_p.V120V|CYSLTR2_uc010acz.1_Silent_p.V120V|CYSLTR2_uc010ada.1_Silent_p.V120V|CYSLTR2_uc010adb.1_Silent_p.V120V|CYSLTR2_uc010adc.1_Silent_p.V120V|CYSLTR2_uc010add.1_Silent_p.V120V|CYSLTR2_uc010acw.1_Silent_p.V120V|CYSLTR2_uc001vck.2_Silent_p.V120V	p.V120V	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1043	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	120			Extracellular (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.360C>G	CCDS9412.1																																																																																				PASS	0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			22	34	22	34	---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52971859	52971859	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:52971859C>T	ENST00000258613.4	-	3	707	c.529G>A	c.(529-531)Gag>Aag	p.E177K	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.E177K	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	177					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.E177K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTTCTTGCCTCAGGAAGACTG	0.502																																						uc001vgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(529-531)GAG>AAG		thrombospondin type I domain-containing 1							78.0	66.0	70.0					13																	52971859		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971859C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.529G>A	13.37:g.52971859C>T	ENSP00000258613:p.Glu177Lys					THSD1_uc001vgp.2_Missense_Mutation_p.E177K|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	p.E177K	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1074	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	177			Extracellular (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.529G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896773	0.33535	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18960	2.18;2.36	5.54	3.78	0.43462	.	0.472083	0.23842	N	0.044024	T	0.45034	0.1322	M	0.72118	2.19	0.23869	N	0.996616	D;P	0.71674	0.998;0.636	D;B	0.80764	0.994;0.178	T	0.39165	-0.9627	10	0.45353	T	0.12	-11.5864	15.1207	0.72441	0.0:0.7108:0.2892:0.0	.	177;177	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	K	177	ENSP00000340650:E177K;ENSP00000258613:E177K	ENSP00000258613:E177K	E	-	1	0	THSD1	51869860	0.503000	0.26115	0.029000	0.17559	0.152000	0.21847	1.252000	0.32874	0.668000	0.31126	-0.311000	0.09066	GAG		PASS	0.502	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			13	15	13	15	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77672952	77672952	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:77672952C>T	ENST00000544440.2	-	56	8240	c.8223G>A	c.(8221-8223)ttG>ttA	p.L2741L	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.L2741L|MYCBP2_ENST00000407578.2_Silent_p.L2779L|MYCBP2_ENST00000360084.5_Silent_p.L264L|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.L2741L(2)|p.L264L(1)|p.L2779L(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)		AATCTGACCTCAACTTTGCAG	0.473																																						uc001vkf.2																			4	Substitution - coding silent(4)		lung(4)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(8221-8223)TTG>TTA		MYC binding protein 2							136.0	124.0	128.0					13																	77672952		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672952C>T	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.8223G>A	13.37:g.77672952C>T						MYCBP2_uc010aev.2_Silent_p.L2145L|MYCBP2_uc001vkg.1_Silent_p.L264L|MYCBP2_uc010aew.2_Silent_p.L127L	p.L2741L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	8314	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2741			Ser-rich.			Silent	SNP	ENST00000544440.2	37	c.8223G>A																																																																																					PASS	0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		29	31	29	31	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92380910	92380910	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:92380910A>G	ENST00000377067.3	+	4	1517	c.1145A>G	c.(1144-1146)aAc>aGc	p.N382S	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	382					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.N382S(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACGCTTGCCAACAGAAGAAAG	0.368																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1144-1146)AAC>AGC		glypican 5 precursor							106.0	111.0	110.0					13																	92380910		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380910A>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1145A>G	13.37:g.92380910A>G	ENSP00000366267:p.Asn382Ser						p.N382S	NM_004466	NP_004457	P78333	GPC5_HUMAN			4	1511	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	382					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1145A>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	1.963	-0.438383	0.04636	.	.	ENSG00000179399	ENST00000377067	T	0.48201	0.82	5.88	3.15	0.36227	.	0.489242	0.24231	N	0.040342	T	0.23766	0.0575	N	0.13272	0.32	0.28667	N	0.905811	B	0.10296	0.003	B	0.14023	0.01	T	0.24190	-1.0167	10	0.02654	T	1	1.3507	8.8026	0.34918	0.7766:0.0:0.2234:0.0	.	382	P78333	GPC5_HUMAN	S	382	ENSP00000366267:N382S	ENSP00000366267:N382S	N	+	2	0	GPC5	91178911	0.985000	0.35326	1.000000	0.80357	0.994000	0.84299	0.096000	0.15147	1.051000	0.40369	0.455000	0.32223	AAC		PASS	0.368	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		39	50	39	50	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110827678	110827678	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:110827678C>A	ENST00000375820.4	-	37	3206	c.3085G>T	c.(3085-3087)Ggc>Tgc	p.G1029C		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1029	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.G1029C(1)|p.G672C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGGATGCCAGGCACACCT	0.507																																						uc001vqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3085-3087)GGC>TGC		alpha 1 type IV collagen preproprotein							114.0	91.0	99.0					13																	110827678		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110827678C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3085G>T	13.37:g.110827678C>A	ENSP00000364979:p.Gly1029Cys					COL4A1_uc010agl.2_Intron	p.G1029C	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		37	3207	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1029			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3085G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382269	0.82792	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99369	-5.78	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97465	1.0037	10	0.87932	D	0	.	19.5308	0.95228	0.0:1.0:0.0:0.0	.	1029	P02462	CO4A1_HUMAN	C	672;1029;678	ENSP00000364979:G1029C	ENSP00000364973:G672C	G	-	1	0	COL4A1	109625679	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.643000	0.74334	2.684000	0.91462	0.650000	0.86243	GGC		PASS	0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			7	5	7	5	---	---	---	---
F7	2155	broad.mit.edu	37	13	113768231	113768231	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr13:113768231C>T	ENST00000375581.3	+	5	422	c.387C>T	c.(385-387)atC>atT	p.I129I	F7_ENST00000541084.1_Silent_p.I60I|F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Silent_p.I107I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	129	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I129I(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGTCCTATATCTGCTTCTGCC	0.602																																						uc001vsv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)ATC>ATT		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						92.0	88.0	89.0					13																	113768231		2203	4300	6503	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113768231C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.387C>T	13.37:g.113768231C>T						F7_uc010agp.1_Silent_p.I122I|F7_uc001vsw.2_Silent_p.I107I|F7_uc010tjt.1_Silent_p.I60I	p.I129I	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		5	438	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	129			EGF-like 1; calcium-binding (Potential).		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.387C>T	CCDS9528.1																																																																																				PASS	0.602	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		11	11	11	11	---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711715	20711715	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:20711715G>A	ENST00000315409.2	+	1	818	c.765G>A	c.(763-765)ttG>ttA	p.L255L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L255L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GTTCTCATTTGGTTGTGGTAT	0.418																																						uc010tld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(763-765)TTG>TTA		olfactory receptor, family 11, subfamily H,							255.0	246.0	249.0					14																	20711715		2203	4300	6503	SO:0001819	synonymous_variant	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711715G>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.765G>A	14.37:g.20711715G>A							p.L255L	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	765	+	all_cancers(95;0.000888)		255			Helical; Name=6; (Potential).		B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	c.765G>A	CCDS32034.1																																																																																				PASS	0.418	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			45	53	45	53	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884939	23884939	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:23884939C>G	ENST00000355349.3	-	35	5218	c.5056G>C	c.(5056-5058)Gag>Cag	p.E1686Q	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1686					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E1686Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCAACTCCTCCAGCTCAGCC	0.622																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5056-5058)GAG>CAG		myosin, heavy chain 7, cardiac muscle, beta							76.0	66.0	70.0					14																	23884939		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884939C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5056G>C	14.37:g.23884939C>G	ENSP00000347507:p.Glu1686Gln						p.E1686Q	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	35	5162	-	all_cancers(95;2.54e-05)		1686			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5056G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038195	0.93630	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.81330	-1.48	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.91095	0.7197	M	0.91354	3.2	0.58432	D	0.999999	P	0.46912	0.886	P	0.58130	0.833	D	0.92503	0.6010	9	0.87932	D	0	.	19.1626	0.93539	0.0:1.0:0.0:0.0	.	1686	P12883	MYH7_HUMAN	Q	1686;1691	ENSP00000347507:E1686Q	ENSP00000347507:E1686Q	E	-	1	0	MYH7	22954779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.075000	0.76798	2.768000	0.95171	0.561000	0.74099	GAG		PASS	0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	32	4	32	---	---	---	---
NOP9	161424	broad.mit.edu	37	14	24772988	24772988	+	Silent	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:24772988C>G	ENST00000267425.3	+	7	1428	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L	NOP9_ENST00000396802.3_Silent_p.L445L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	445							poly(A) RNA binding (GO:0044822)	p.L445L(1)									GTGTGCCTCTCTTTGCCACTT	0.552																																						uc001wol.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(1)|skin(1)	4						c.(1333-1335)CTC>CTG		hypothetical protein LOC161424							76.0	72.0	73.0					14																	24772988		2203	4300	6503	SO:0001819	synonymous_variant	161424						RNA binding	g.chr14:24772988C>G		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1335C>G	14.37:g.24772988C>G						C14orf21_uc001wom.1_5'UTR	p.L445L	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	7	1398	+			445					A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1335C>G	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	7.586	0.669692	0.14776	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.32	3.51	0.40186	.	.	.	.	.	T	0.55970	0.1954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50432	-0.8829	4	.	.	.	-14.6381	7.2081	0.25919	0.0:0.7004:0.1418:0.1578	.	.	.	.	C	71	.	.	S	+	2	0	C14orf21	23842828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.251000	0.32862	0.811000	0.34303	-0.140000	0.14226	TCT		PASS	0.552	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			12	33	12	33	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35240723	35240723	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:35240723G>C	ENST00000382422.2	-	20	3622	c.3295C>G	c.(3295-3297)Cca>Gca	p.P1099A	BAZ1A_ENST00000360310.1_Missense_Mutation_p.P1099A|BAZ1A_ENST00000358716.4_Missense_Mutation_p.P1067A			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1099					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.P1099A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTACCAAGTGGAGCTTTCAGA	0.363																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(3295-3297)CCA>GCA		bromodomain adjacent to zinc finger domain, 1A							180.0	186.0	184.0					14																	35240723		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35240723G>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3295C>G	14.37:g.35240723G>C	ENSP00000371859:p.Pro1099Ala					BAZ1A_uc001wsl.2_Missense_Mutation_p.P1067A	p.P1099A	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	21	3863	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1099					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.3295C>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014098	0.93404	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.84070	-1.8;-1.8;-1.8	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.92147	0.5725	10	0.66056	D	0.02	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	1067;1099	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	A	1067;1099;1099;751	ENSP00000351555:P1067A;ENSP00000371859:P1099A;ENSP00000353458:P1099A	ENSP00000351555:P1067A	P	-	1	0	BAZ1A	34310474	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.481000	0.97933	2.665000	0.90641	0.650000	0.86243	CCA		PASS	0.363	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			40	118	40	118	---	---	---	---
INSM2	84684	broad.mit.edu	37	14	36004316	36004316	+	Silent	SNP	C	C	A	rs540516375		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:36004316C>A	ENST00000307169.3	+	1	1069	c.858C>A	c.(856-858)atC>atA	p.I286I		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I286I(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCTCCCGCATCGTGCGCGTAG	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15481	0.0		0.0	False		,,,				2504	0.0					uc001wth.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(856-858)ATC>ATA		insulinoma-associated protein IA-6							31.0	32.0	32.0					14																	36004316		2203	4298	6501	SO:0001819	synonymous_variant	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004316C>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.858C>A	14.37:g.36004316C>A							p.I286I	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1069	+	Breast(36;0.122)|Hepatocellular(127;0.158)		286					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.858C>A	CCDS9657.1																																																																																				PASS	0.677	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			9	16	9	16	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56085932	56085932	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:56085932C>A	ENST00000395314.3	+	5	933	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	KTN1_ENST00000438792.2_Missense_Mutation_p.L289M|KTN1_ENST00000416613.1_Missense_Mutation_p.L289M|KTN1_ENST00000395309.3_Missense_Mutation_p.L289M|KTN1_ENST00000413890.2_Missense_Mutation_p.L289M|KTN1_ENST00000395311.1_Missense_Mutation_p.L289M|KTN1_ENST00000395308.1_Missense_Mutation_p.L289M	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	289					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L289M(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGATTTTCTTCTGTCCTTGAA	0.313			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(865-867)CTG>ATG		kinectin 1 isoform a							153.0	144.0	147.0					14																	56085932		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56085932C>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.865C>A	14.37:g.56085932C>A	ENSP00000378725:p.Leu289Met					KTN1_uc001xce.2_Missense_Mutation_p.L289M|KTN1_uc001xcc.2_Missense_Mutation_p.L289M|KTN1_uc001xcd.2_Missense_Mutation_p.L289M|KTN1_uc010trb.1_Missense_Mutation_p.L289M|KTN1_uc001xcf.1_Missense_Mutation_p.L289M	p.L289M	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			6	1167	+			289			Lumenal (Potential).		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.865C>A	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353851	0.41700	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.28	5.28	0.74379	.	0.164390	0.28606	N	0.014760	T	0.56543	0.1992	L	0.27053	0.805	0.30797	N	0.740277	P;D;B;P	0.89917	0.69;1.0;0.363;0.492	B;D;B;B	0.91635	0.269;0.999;0.149;0.184	T	0.58370	-0.7648	10	0.46703	T	0.11	-0.0205	8.8161	0.34996	0.1611:0.7593:0.0:0.0796	.	289;289;289;289	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	M	289	ENSP00000394992:L289M;ENSP00000378720:L289M;ENSP00000391964:L289M;ENSP00000378725:L289M;ENSP00000378719:L289M;ENSP00000378722:L289M;ENSP00000388807:L289M	ENSP00000378719:L289M	L	+	1	2	KTN1	55155685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.838000	0.27572	2.483000	0.83821	0.573000	0.79308	CTG		PASS	0.313	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			10	39	10	39	---	---	---	---
SLC38A6	145389	broad.mit.edu	37	14	61517235	61517235	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:61517235G>C	ENST00000267488.4	+	13	1047	c.931G>C	c.(931-933)Gtg>Ctg	p.V311L	SLC38A6_ENST00000354886.2_Missense_Mutation_p.V311L|SLC38A6_ENST00000456840.2_Missense_Mutation_p.V288L	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	311					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.V311L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TACAGACAAAGTGGAGTCAGA	0.294																																						uc001xfg.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(931-933)GTG>CTG		solute carrier family 38, member 6							94.0	90.0	91.0					14																	61517235		2202	4298	6500	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61517235G>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.931G>C	14.37:g.61517235G>C	ENSP00000267488:p.Val311Leu					SLC38A6_uc001xfh.1_Missense_Mutation_p.V311L|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.V288L	p.V311L	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	13	1047	+			311					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.931G>C	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720011	0.89205	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96	5.92	5.92	0.95590	.	0.170693	0.51477	D	0.000091	T	0.22589	0.0545	M	0.88842	2.985	0.80722	D	1	D;D;D	0.60575	0.988;0.984;0.986	P;P;P	0.60117	0.869;0.861;0.78	T	0.00688	-1.1609	10	0.87932	D	0	-2.2014	20.327	0.98704	0.0:0.0:1.0:0.0	.	288;311;311	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	L	311;311;306;288;84	ENSP00000346959:V311L;ENSP00000267488:V311L;ENSP00000395851:V306L;ENSP00000413863:V288L;ENSP00000437190:V84L	ENSP00000267488:V311L	V	+	1	0	SLC38A6	60586988	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.457000	0.90361	2.794000	0.96219	0.650000	0.86243	GTG		PASS	0.294	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			4	23	4	23	---	---	---	---
NEK9	91754	broad.mit.edu	37	14	75587213	75587213	+	Splice_Site	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:75587213C>A	ENST00000238616.5	-	4	682	c.524G>T	c.(523-525)aGa>aTa	p.R175I		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R175I(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TACTTCTTACCTATGAAGGAT	0.398																																						uc001xrl.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(2)|ovary(1)	5						c.(523-525)AGA>ATA		NIMA-related kinase 9							88.0	97.0	94.0					14																	75587213		2203	4300	6503	SO:0001630	splice_region_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75587213C>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.524+1G>T	14.37:g.75587213C>A							p.R175I	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	4	678	-			175			Protein kinase.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.524G>T	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105902	0.94292	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.74632	0.79;-0.86;-0.18	6.02	6.02	0.97574	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	D	0.92532	0.7628	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94536	0.7740	9	.	.	.	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	175	Q8TD19	NEK9_HUMAN	I	175;157;57;57	ENSP00000238616:R175I;ENSP00000450943:R57I;ENSP00000452537:R57I	.	R	-	2	0	NEK9	74656966	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.035000	0.76517	2.850000	0.98022	0.650000	0.86243	AGA		PASS	0.398	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	Missense_Mutation	5	46	5	46	---	---	---	---
ESRRB	2103	broad.mit.edu	37	14	76948971	76948971	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:76948971C>A	ENST00000509242.1	+	6	754	c.656C>A	c.(655-657)gCt>gAt	p.A219D	ESRRB_ENST00000380887.2_Missense_Mutation_p.A219D|ESRRB_ENST00000556177.1_Missense_Mutation_p.A219D|ESRRB_ENST00000261532.7_Missense_Mutation_p.A219D	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	219					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A219D(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTACTGGTGGCTGAGCCGGAC	0.567																																						uc001xsq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(655-657)GCT>GAT		estrogen-related receptor beta							95.0	81.0	86.0					14																	76948971		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76948971C>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.656C>A	14.37:g.76948971C>A	ENSP00000422488:p.Ala219Asp					ESRRB_uc001xsr.2_Missense_Mutation_p.A219D|ESRRB_uc001xso.2_RNA	p.A219D	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	5	723	+			219					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.656C>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410398	0.83340	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.45	4.54	0.55810	.	0.050685	0.85682	D	0.000000	T	0.65760	0.2722	M	0.81942	2.565	0.58432	D	0.999998	D;D	0.64830	0.994;0.988	P;P	0.58210	0.835;0.835	T	0.72312	-0.4331	10	0.87932	D	0	.	14.6469	0.68767	0.0:0.9289:0.0:0.0711	.	219;224	Q5F0P7;E7EWD9	.;.	D	224;219;219;219;219	ENSP00000424992:A224D;ENSP00000422488:A219D;ENSP00000451658:A219D;ENSP00000370270:A219D;ENSP00000261532:A219D	ENSP00000261532:A219D	A	+	2	0	ESRRB	76018724	1.000000	0.71417	0.862000	0.33874	0.986000	0.74619	5.940000	0.70187	1.266000	0.44231	0.655000	0.94253	GCT		PASS	0.567	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			8	24	8	24	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77492209	77492209	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:77492209C>T	ENST00000238647.3	-	1	2825	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	643					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G643S(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ACGGAACTGCCATCCTTGGGC	0.672																																						uc001xsy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1927-1929)GGC>AGC		chromosome 14 open reading frame 4							16.0	16.0	16.0					14																	77492209		2168	4240	6408	SO:0001583	missense	64207					nucleus		g.chr14:77492209C>T	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1927G>A	14.37:g.77492209C>T	ENSP00000238647:p.Gly643Ser						p.G643S	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	2826	-			643					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1927G>A	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899830	0.33535	.	.	ENSG00000119669	ENST00000238647	T	0.66280	-0.2	4.3	4.3	0.51218	.	0.156120	0.45126	U	0.000389	T	0.44519	0.1297	N	0.17082	0.46	0.41362	D	0.987432	B	0.22003	0.063	B	0.24006	0.05	T	0.36114	-0.9761	10	0.08837	T	0.75	.	15.9087	0.79450	0.0:1.0:0.0:0.0	.	643	Q9H1B7	I2BPL_HUMAN	S	643	ENSP00000238647:G643S	ENSP00000238647:G643S	G	-	1	0	IRF2BPL	76561962	0.947000	0.32204	0.959000	0.39883	0.979000	0.70002	2.684000	0.46951	2.216000	0.71823	0.462000	0.41574	GGC		PASS	0.672	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		6	6	6	6	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81302659	81302659	+	Missense_Mutation	SNP	A	A	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:81302659A>C	ENST00000555265.1	-	12	1322	c.947T>G	c.(946-948)cTt>cGt	p.L316R	CEP128_ENST00000281129.3_Missense_Mutation_p.L316R|CEP128_ENST00000216517.6_Missense_Mutation_p.L316R			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	316						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.L316R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGCTTTCGTAAGTTGTGTACG	0.408																																						uc001xux.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)CTT>CGT		hypothetical protein LOC145508							269.0	225.0	240.0					14																	81302659		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81302659A>C	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.947T>G	14.37:g.81302659A>C	ENSP00000451162:p.Leu316Arg					C14orf145_uc010asz.1_RNA|C14orf145_uc001xuz.2_Missense_Mutation_p.L316R|C14orf145_uc001xuy.1_Missense_Mutation_p.L174R	p.L316R	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	11	1118	-			316			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.947T>G	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.66|14.66	2.601881|2.601881	0.46423|0.46423	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517|ENST00000554827	D;D;D|D	0.86497|0.86030	-2.13;-2.13;-2.13|-2.06	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000011|0.000011	D|D	0.88727|0.88727	0.6515|0.6515	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.947;1.0;0.996|.	P;D;D|.	0.91635|.	0.606;0.999;0.935|.	D|D	0.87949|0.87949	0.2722|0.2722	10|7	0.35671|.	T|.	0.21|.	.|.	13.9483|13.9483	0.64099|0.64099	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	316;197;316|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	R|V	316|195	ENSP00000281129:L316R;ENSP00000451162:L316R;ENSP00000216517:L316R|ENSP00000450555:L195V	ENSP00000216517:L316R|.	L|L	-|-	2|1	0|2	CEP128|CEP128	80372412|80372412	0.999000|0.999000	0.42202|0.42202	0.596000|0.596000	0.28811|0.28811	0.113000|0.113000	0.19764|0.19764	5.566000|5.566000	0.67372|0.67372	2.175000|2.175000	0.68902|0.68902	0.533000|0.533000	0.62120|0.62120	CTT|TTA		PASS	0.408	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		10	78	10	78	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103442072	103442072	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:103442072C>G	ENST00000361246.2	-	11	1744	c.1456G>C	c.(1456-1458)Gaa>Caa	p.E486Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E486Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTTTGATTTCTTTATCTCGG	0.448																																						uc001ymi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(1456-1458)GAA>CAA		CDC42-binding protein kinase beta							153.0	155.0	155.0					14																	103442072		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442072C>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1456G>C	14.37:g.103442072C>G	ENSP00000355237:p.Glu486Gln						p.E486Q	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1688	-		Melanoma(154;0.155)	486			Potential.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1456G>C	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747395	0.89663	.	.	ENSG00000198752	ENST00000361246	T	0.68025	-0.3	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	M	0.84683	2.71	0.80722	D	1	P	0.38420	0.63	P	0.44732	0.459	T	0.79650	-0.1715	10	0.49607	T	0.09	.	19.0682	0.93122	0.0:1.0:0.0:0.0	.	486	Q9Y5S2	MRCKB_HUMAN	Q	486	ENSP00000355237:E486Q	ENSP00000355237:E486Q	E	-	1	0	CDC42BPB	102511825	1.000000	0.71417	0.379000	0.26080	0.931000	0.56810	7.268000	0.78473	2.489000	0.83994	0.650000	0.86243	GAA		PASS	0.448	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		15	69	15	69	---	---	---	---
CEP170B	283638	broad.mit.edu	37	14	105344820	105344820	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:105344820C>T	ENST00000414716.3	+	5	543	c.315C>T	c.(313-315)gtC>gtT	p.V105V	CEP170B_ENST00000418279.1_Silent_p.V35V|CEP170B_ENST00000556508.1_Silent_p.V35V|CEP170B_ENST00000453495.1_Silent_p.V105V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	105						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.V35V(1)|p.V105V(1)									AGCACCGAGTCCCGGAGGAGG	0.627																																						uc010axb.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(313-315)GTC>GTT		hypothetical protein LOC283638 isoform 1							97.0	105.0	102.0					14																	105344820		2108	4225	6333	SO:0001819	synonymous_variant	283638					cytoplasm|microtubule		g.chr14:105344820C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.315C>T	14.37:g.105344820C>T						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.V35V|KIAA0284_uc001yps.2_Silent_p.V11V	p.V105V	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	5	539	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	105					Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.315C>T	CCDS45175.1																																																																																				PASS	0.627	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		19	18	19	18	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405698	105405698	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr14:105405698T>A	ENST00000333244.5	-	7	16209	c.16090A>T	c.(16090-16092)Atg>Ttg	p.M5364L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.M362L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5364						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.M334L(1)|p.M5364L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGATGGCATATCAGTACTT	0.443																																						uc010axc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16090-16092)ATG>TTG		AHNAK nucleoprotein 2							57.0	59.0	58.0					14																	105405698		1898	4122	6020	SO:0001583	missense	113146					nucleus		g.chr14:105405698T>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16090A>T	14.37:g.105405698T>A	ENSP00000353114:p.Met5364Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.M5264L	p.M5364L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16210	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5364					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16090A>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	T	4.186	0.033163	0.08101	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02863	4.13;6.01	4.77	-0.245	0.13027	.	1.351790	0.05914	U	0.632322	T	0.01489	0.0048	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.43940	-0.9360	10	0.02654	T	1	.	1.5856	0.02643	0.1411:0.4007:0.139:0.3192	.	5364	Q8IVF2	AHNK2_HUMAN	L	362;5364	ENSP00000450998:M362L;ENSP00000353114:M5364L	ENSP00000353114:M5364L	M	-	1	0	AHNAK2	104476743	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.303000	0.01135	0.137000	0.18759	-0.608000	0.04076	ATG		PASS	0.443	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	41	10	41	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31294476	31294476	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:31294476T>C	ENST00000256552.6	-	28	4574	c.4427A>G	c.(4426-4428)cAg>cGg	p.Q1476R	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q1454R|TRPM1_ENST00000542188.1_Missense_Mutation_p.Q1493R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.Q1454R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCTACATCCTGGTTAACCCC	0.468																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(4360-4362)CAG>CGG		transient receptor potential cation channel,							158.0	142.0	147.0					15																	31294476		1919	4139	6058	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294476T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4427A>G	15.37:g.31294476T>C	ENSP00000256552:p.Gln1476Arg					TRPM1_uc010azy.2_Missense_Mutation_p.Q1361R|TRPM1_uc001zfl.2_RNA	p.Q1454R	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4489	-		all_lung(180;1.92e-11)	1454			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4361A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.531548	0.00951	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.47528	0.86;0.84;0.86	4.92	3.02	0.34903	.	0.701338	0.13782	N	0.363131	T	0.29190	0.0726	N	0.08118	0	0.24904	N	0.992081	B;B	0.21905	0.062;0.0	B;B	0.25614	0.062;0.001	T	0.25916	-1.0118	10	0.56958	D	0.05	-1.5052	10.4843	0.44713	0.0:0.8394:0.0:0.1606	.	1448;1454	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	1454;1493;1476;1454	ENSP00000380897:Q1454R;ENSP00000437849:Q1493R;ENSP00000256552:Q1476R	ENSP00000256552:Q1476R	Q	-	2	0	TRPM1	29081768	0.999000	0.42202	0.004000	0.12327	0.003000	0.03518	0.979000	0.29500	0.467000	0.27218	-0.242000	0.12053	CAG		PASS	0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		31	43	31	43	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43527676	43527676	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:43527676G>T	ENST00000220420.5	-	10	1712	c.1705C>A	c.(1705-1707)Cct>Act	p.P569T	TGM5_ENST00000349114.4_Missense_Mutation_p.P487T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	569					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P569S(1)|p.P569T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCTTCTTTAGGAGAGAGTGTG	0.557																																						uc001zrd.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	central_nervous_system(1)	1						c.(1705-1707)CCT>ACT		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						48.0	37.0	41.0					15																	43527676		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527676G>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1705C>A	15.37:g.43527676G>T	ENSP00000220420:p.Pro569Thr					TGM5_uc001zrc.1_Missense_Mutation_p.P226T|TGM5_uc001zre.1_Missense_Mutation_p.P487T	p.P569T	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1713	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	569					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1705C>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468802	0.26335	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.83335	-1.71;-1.71	4.67	2.77	0.32553	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.062811	0.64402	D	0.000004	D	0.84456	0.5476	M	0.77486	2.375	0.09310	N	0.999999	P;P	0.48162	0.906;0.656	P;B	0.51657	0.676;0.345	T	0.76102	-0.3082	10	0.59425	D	0.04	-2.3169	4.5926	0.12315	0.1946:0.1843:0.6211:0.0	.	487;569	O43548-2;O43548	.;TGM5_HUMAN	T	569;487;568	ENSP00000220420:P569T;ENSP00000220419:P487T	ENSP00000220420:P569T	P	-	1	0	TGM5	41314968	0.979000	0.34478	0.336000	0.25522	0.760000	0.43138	1.845000	0.39279	0.573000	0.29400	0.655000	0.94253	CCT		PASS	0.557	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		4	24	4	24	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50158593	50158593	+	Missense_Mutation	SNP	A	A	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:50158593A>C	ENST00000284509.6	-	26	3257	c.3116T>G	c.(3115-3117)aTg>aGg	p.M1039R	ATP8B4_ENST00000559829.1_Missense_Mutation_p.M1039R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1039						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.M1039R(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTACTGTGCATTGTAAATAA	0.393																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3115-3117)ATG>AGG		ATPase class I type 8B member 4							102.0	94.0	97.0					15																	50158593		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50158593A>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3116T>G	15.37:g.50158593A>C	ENSP00000284509:p.Met1039Arg					ATP8B4_uc010ber.2_Missense_Mutation_p.M912R|ATP8B4_uc010ufd.1_Missense_Mutation_p.M849R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.M42R	p.M1039R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	26	3258	-		all_lung(180;0.00183)	1039			Helical; (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3116T>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766628	0.49574	.	.	ENSG00000104043	ENST00000284509	T	0.40476	1.03	5.15	4.01	0.46588	.	0.042755	0.85682	D	0.000000	T	0.51550	0.1681	M	0.77820	2.39	0.48901	D	0.999728	P;P	0.44877	0.845;0.76	P;B	0.50490	0.642;0.421	T	0.50021	-0.8876	10	0.42905	T	0.14	.	8.2243	0.31560	0.8962:0.0:0.1038:0.0	.	117;1039	Q6PG43;Q8TF62	.;AT8B4_HUMAN	R	1039	ENSP00000284509:M1039R	ENSP00000284509:M1039R	M	-	2	0	ATP8B4	47945885	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.025000	0.64097	0.883000	0.36040	0.482000	0.46254	ATG		PASS	0.393	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		11	49	11	49	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54707216	54707216	+	Silent	SNP	C	C	T	rs377386387	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:54707216C>T	ENST00000260323.11	+	18	4884	c.4884C>T	c.(4882-4884)gcC>gcT	p.A1628A	UNC13C_ENST00000537900.1_Silent_p.A1626A|UNC13C_ENST00000545554.1_Silent_p.A1628A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1628					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.A1628A(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAATAAGTGCCGAAATTATGT	0.313													C|||	2	0.000399361	0.0	0.0	5008	,	,		16190	0.0		0.0	False		,,,				2504	0.002					uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4882-4884)GCC>GCT		unc-13 homolog C		C		3,3615		0,3,1806	110.0	108.0	109.0		4884	3.2	1.0	15		109	0,8124		0,0,4062	no	coding-synonymous	UNC13C	NM_001080534.1		0,3,5868	TT,TC,CC		0.0,0.0829,0.0255		1628/2215	54707216	3,11739	1809	4062	5871	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54707216C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4884C>T	15.37:g.54707216C>T						UNC13C_uc002acl.2_Silent_p.A458A	p.A1628A	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	17	4884	+			1628					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4884C>T	CCDS45264.1																																																																																				PASS	0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	44	6	44	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66850219	66850219	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:66850219G>T	ENST00000341509.5	-	8	894	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	LCTL_ENST00000537670.1_Missense_Mutation_p.L82M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	255					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L255M(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCCCACCAGACCTTAAAAG	0.537																																						uc002aqc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(763-765)CTG>ATG		lactase-like precursor							78.0	85.0	83.0					15																	66850219		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850219G>T	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.763C>A	15.37:g.66850219G>T	ENSP00000343490:p.Leu255Met					LCTL_uc002aqd.3_Missense_Mutation_p.L82M|LCTL_uc010bhw.2_Translation_Start_Site	p.L255M	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			8	895	-			255			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.763C>A	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417007	0.11870	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.32272	1.46;1.46	5.82	1.53	0.23141	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.224065	0.41194	D	0.000939	T	0.12305	0.0299	N	0.05078	-0.115	0.31493	N	0.665701	B	0.22683	0.073	B	0.28011	0.085	T	0.06661	-1.0814	10	0.39692	T	0.17	-11.2383	1.9458	0.03356	0.1613:0.1142:0.4489:0.2755	.	255	Q6UWM7	LCTL_HUMAN	M	82;255	ENSP00000445419:L82M;ENSP00000343490:L255M	ENSP00000343490:L255M	L	-	1	2	LCTL	64637273	0.866000	0.29940	0.966000	0.40874	0.184000	0.23303	0.554000	0.23407	0.346000	0.23899	0.655000	0.94253	CTG		PASS	0.537	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		38	45	38	45	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68624279	68624279	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:68624279C>T	ENST00000315757.7	-	14	1774	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	ITGA11_ENST00000423218.2_Missense_Mutation_p.G563E	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	563					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.G563E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CAGGGGGGCTCCCACCACCAC	0.562																																						uc002ari.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(1687-1689)GGA>GAA		integrin, alpha 11 precursor	Tirofiban(DB00775)						58.0	58.0	58.0					15																	68624279		1990	4146	6136	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68624279C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1688G>A	15.37:g.68624279C>T	ENSP00000327290:p.Gly563Glu					ITGA11_uc010bib.2_Missense_Mutation_p.G563E	p.G563E	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			14	1775	-			563			FG-GAP 6.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.1688G>A	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576660	0.65878	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.36340	1.26;1.26	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84869	0.0824	10	0.87932	D	0	.	16.6017	0.84817	0.0:1.0:0.0:0.0	.	563;563	A8K8T0;Q9UKX5	.;ITA11_HUMAN	E	563;563;198;563	ENSP00000327290:G563E;ENSP00000403392:G563E	ENSP00000327290:G563E	G	-	2	0	ITGA11	66411333	1.000000	0.71417	0.998000	0.56505	0.079000	0.17450	7.422000	0.80217	2.152000	0.67230	0.456000	0.33151	GGA		PASS	0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		5	9	5	9	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83358145	83358145	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:83358145C>T	ENST00000261722.3	-	2	381	c.174G>A	c.(172-174)atG>atA	p.M58I	AP3B2_ENST00000561455.1_5'UTR|AP3B2_ENST00000542200.1_Missense_Mutation_p.M58I|AP3B2_ENST00000535348.1_Missense_Mutation_p.M58I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.M58I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	58					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.M58I(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAATCCTCTTCATGGCCTCCA	0.587																																						uc010uoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(172-174)ATG>ATA		adaptor-related protein complex 3, beta 2							63.0	60.0	61.0					15																	83358145		2006	4173	6179	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83358145C>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.174G>A	15.37:g.83358145C>T	ENSP00000261722:p.Met58Ile					AP3B2_uc010uoi.1_Missense_Mutation_p.M58I|AP3B2_uc010uoj.1_Missense_Mutation_p.M58I|AP3B2_uc010uok.1_Missense_Mutation_p.M58I	p.M58I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		2	351	-			58					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.174G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181822	0.94885	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693;ENST00000542200;ENST00000535513	T;T;T;T;T	0.23348	1.91;2.66;1.91;1.91;1.91	5.66	5.66	0.87406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	0.998;0.969;1.0;0.999	D;D;D;D	0.85130	0.993;0.968;0.997;0.987	T	0.52305	-0.8593	10	0.72032	D	0.01	-35.4134	19.7503	0.96265	0.0:1.0:0.0:0.0	.	58;58;58;58	F5H0E6;B7ZKR7;B7ZKS0;Q13367	.;.;.;AP3B2_HUMAN	I	58;58;58;14;58;58	ENSP00000261722:M58I;ENSP00000438721:M58I;ENSP00000440984:M58I;ENSP00000441961:M14I;ENSP00000440719:M58I	ENSP00000261722:M58I	M	-	3	0	AP3B2	81155199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.648000	0.89879	0.655000	0.94253	ATG		PASS	0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			11	14	11	14	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85407730	85407730	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:85407730G>A	ENST00000258888.5	+	12	5330	c.5163G>A	c.(5161-5163)ctG>ctA	p.L1721L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1721	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1721L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGCTACCCTGGAGGAAGACC	0.532																																						uc002ble.2																			2	Substitution - coding silent(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(5161-5163)CTG>CTA		alpha-kinase 3							105.0	94.0	98.0					15																	85407730		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407730G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5163G>A	15.37:g.85407730G>A						ALPK3_uc010upc.1_Silent_p.L22L	p.L1721L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5330	+			1721			Alpha-type protein kinase.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.5163G>A	CCDS10333.1																																																																																				PASS	0.532	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		16	35	16	35	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85661024	85661024	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:85661024A>T	ENST00000310298.4	+	18	1940	c.1688A>T	c.(1687-1689)gAt>gTt	p.D563V	PDE8A_ENST00000394553.1_Missense_Mutation_p.D563V|PDE8A_ENST00000557957.1_Missense_Mutation_p.D491V|PDE8A_ENST00000339708.5_Missense_Mutation_p.D517V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	563	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.D563V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CATTCTGCTGATGTGCTTCAT	0.448																																						uc002blh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1687-1689)GAT>GTT		phosphodiesterase 8A isoform 1							222.0	198.0	206.0					15																	85661024		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85661024A>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1688A>T	15.37:g.85661024A>T	ENSP00000311453:p.Asp563Val					PDE8A_uc002bli.2_Missense_Mutation_p.D517V|PDE8A_uc010bnc.2_Missense_Mutation_p.D316V|PDE8A_uc010bnd.2_Missense_Mutation_p.D316V|PDE8A_uc002blj.2_Missense_Mutation_p.D183V|PDE8A_uc002blk.2_Missense_Mutation_p.D183V|PDE8A_uc002bll.2_5'Flank	p.D563V	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		17	1877	+	Colorectal(223;0.227)		563			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1688A>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335468	0.81801	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	D;D;D	0.82711	-1.64;-1.64;-1.64	5.24	5.24	0.73138	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95628	0.8687	10	0.87932	D	0	.	13.4093	0.60933	1.0:0.0:0.0:0.0	.	517;563	O60658-2;O60658	.;PDE8A_HUMAN	V	563;563;517	ENSP00000311453:D563V;ENSP00000378056:D563V;ENSP00000340679:D517V	ENSP00000311453:D563V	D	+	2	0	PDE8A	83462028	1.000000	0.71417	0.402000	0.26371	0.887000	0.51463	8.746000	0.91604	2.326000	0.78906	0.533000	0.62120	GAT		PASS	0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		35	63	35	63	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98509239	98509239	+	Silent	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr15:98509239T>C	ENST00000268042.6	+	3	653	c.489T>C	c.(487-489)gtT>gtC	p.V163V	ARRDC4_ENST00000538249.1_Silent_p.V76V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	163					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.V163V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TCCAGGTTGTTAGTCATGTCG	0.468																																						uc010bom.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)GTT>GTC		arrestin domain containing 4							210.0	165.0	181.0					15																	98509239		2197	4298	6495	SO:0001819	synonymous_variant	91947				signal transduction			g.chr15:98509239T>C	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.489T>C	15.37:g.98509239T>C						ARRDC4_uc002bui.3_Silent_p.V76V	p.V163V	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		3	648	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		163					Q6NSI9	Silent	SNP	ENST00000268042.6	37	c.489T>C	CCDS10377.1																																																																																				PASS	0.468	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		5	39	5	39	---	---	---	---
RHOT2	89941	broad.mit.edu	37	16	722740	722740	+	Missense_Mutation	SNP	C	C	T	rs150996889	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:722740C>T	ENST00000315082.4	+	17	1556	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	RHBDL1_ENST00000352681.3_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	481	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S481L(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CTGGCCACATCGCTGGACGCC	0.622																																						uc002cip.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1441-1443)TCG>TTG		ras homolog gene family, member T2		C	LEU/SER	1,4389	2.1+/-5.4	0,1,2194	73.0	73.0	73.0		1442	4.7	0.0	16	dbSNP_134	73	1,8595	1.2+/-3.3	0,1,4297	no	missense	RHOT2	NM_138769.1	145	0,2,6491	TT,TC,CC		0.0116,0.0228,0.0154	benign	481/619	722740	2,12984	2195	4298	6493	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:722740C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1442C>T	16.37:g.722740C>T	ENSP00000321971:p.Ser481Leu					RHOT2_uc002ciq.2_Missense_Mutation_p.S374L|RHOT2_uc010bqy.2_Missense_Mutation_p.S260L|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	p.S481L	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN			17	1509	+		Hepatocellular(780;0.0218)	481			Miro 2.|Mitochondrial intermembrane (Potential).		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1442C>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041205	0.35989	2.28E-4	1.16E-4	ENSG00000140983	ENST00000315082	T	0.67865	-0.29	4.65	4.65	0.58169	Mitochondrial Rho-like (1);MIRO (1);	0.574473	0.18031	N	0.153913	T	0.60983	0.2311	L	0.47016	1.485	0.09310	N	0.999999	B	0.11235	0.004	B	0.10450	0.005	T	0.50162	-0.8860	10	0.29301	T	0.29	-1.068	16.0792	0.80989	0.0:1.0:0.0:0.0	.	481	Q8IXI1	MIRO2_HUMAN	L	481	ENSP00000321971:S481L	ENSP00000321971:S481L	S	+	2	0	RHOT2	662741	0.000000	0.05858	0.003000	0.11579	0.239000	0.25481	0.468000	0.22051	2.148000	0.66965	0.313000	0.20887	TCG		PASS	0.622	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		6	11	6	11	---	---	---	---
TIGD7	91151	broad.mit.edu	37	16	3349210	3349210	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:3349210C>G	ENST00000396862.1	-	2	3233	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	TIGD7_ENST00000268674.2_Missense_Mutation_p.E469Q|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	469						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E469Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTCTGCTTCTCAGCTTCTCCT	0.398																																						uc002cus.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)GAG>CAG		tigger transposable element derived 7							166.0	174.0	171.0					16																	3349210		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349210C>G	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1405G>C	16.37:g.3349210C>G	ENSP00000380071:p.Glu469Gln					ZNF263_uc002cur.2_3'UTR	p.E469Q	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN			1	2191	-			469					Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.1405G>C	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.062950	0.01950	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.37752	1.18;1.18	4.8	4.8	0.61643	.	0.457284	0.15758	U	0.246043	T	0.26774	0.0655	N	0.24115	0.695	0.09310	N	1	P	0.51791	0.948	B	0.42995	0.404	T	0.08207	-1.0733	10	0.23891	T	0.37	.	13.6911	0.62547	0.0:1.0:0.0:0.0	.	469	Q6NT04	TIGD7_HUMAN	Q	469	ENSP00000380071:E469Q;ENSP00000268674:E469Q	ENSP00000268674:E469Q	E	-	1	0	TIGD7	3289211	0.001000	0.12720	0.025000	0.17156	0.160000	0.22226	0.854000	0.27791	2.365000	0.80145	0.655000	0.94253	GAG		PASS	0.398	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		47	69	47	69	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4924300	4924300	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:4924300G>A	ENST00000396658.4	+	14	2592	c.1889G>A	c.(1888-1890)gGa>gAa	p.G630E	UBN1_ENST00000590769.1_Missense_Mutation_p.G630E|UBN1_ENST00000262376.6_Missense_Mutation_p.G630E|UBN1_ENST00000545171.1_Missense_Mutation_p.G630E	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	630					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G630E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CACCAAACAGGAGGCCTGAGT	0.542																																						uc002cyb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1888-1890)GGA>GAA		ubinuclein 1							98.0	105.0	103.0					16																	4924300		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924300G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1889G>A	16.37:g.4924300G>A	ENSP00000379894:p.Gly630Glu					UBN1_uc010uxw.1_Missense_Mutation_p.G630E|UBN1_uc002cyc.2_Missense_Mutation_p.G630E	p.G630E	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2228	+			630					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.1889G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314157	0.40996	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.47177	1.45;0.85;1.45	4.64	3.61	0.41365	.	0.447685	0.21015	N	0.081613	T	0.53658	0.1810	L	0.57536	1.79	0.28140	N	0.929821	D;D	0.64830	0.989;0.994	P;P	0.59012	0.85;0.709	T	0.44559	-0.9320	10	0.08599	T	0.76	-12.1974	12.2287	0.54476	0.0:0.0:0.7532:0.2468	.	630;630	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	E	630	ENSP00000262376:G630E;ENSP00000442379:G630E;ENSP00000379894:G630E	ENSP00000262376:G630E	G	+	2	0	UBN1	4864301	0.959000	0.32827	0.994000	0.49952	0.540000	0.34992	0.892000	0.28322	2.575000	0.86900	0.561000	0.74099	GGA		PASS	0.542	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		20	85	20	85	---	---	---	---
TNP2	7142	broad.mit.edu	37	16	11362982	11362982	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:11362982G>C	ENST00000312693.3	-	1	207	c.138C>G	c.(136-138)agC>agG	p.S46R	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	46					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)|p.S46R(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TGGAGCTCTGGCTCCGGCTGC	0.632																																						uc002das.2																			2	Substitution - Missense(1)|Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(136-138)AGC>AGG		transition protein 2 (during histone to							112.0	132.0	125.0					16																	11362982		2072	4207	6279	SO:0001583	missense	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11362982G>C		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.138C>G	16.37:g.11362982G>C	ENSP00000325738:p.Ser46Arg					C16orf75_uc002daq.1_Intron	p.S46R	NM_005425	NP_005416	Q05952	STP2_HUMAN			1	179	-			46					Q9NZB0	Missense_Mutation	SNP	ENST00000312693.3	37	c.138C>G	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	g	9.732	1.162631	0.21538	.	.	ENSG00000178279	ENST00000312693	T	0.56275	0.47	2.43	-2.11	0.07187	.	.	.	.	.	T	0.56906	0.2017	L	0.49126	1.545	0.09310	N	1	D	0.71674	0.998	D	0.63113	0.911	T	0.50136	-0.8863	9	0.45353	T	0.12	.	6.4159	0.21715	0.5487:0.0:0.4513:0.0	.	46	Q05952	STP2_HUMAN	R	46	ENSP00000325738:S46R	ENSP00000325738:S46R	S	-	3	2	TNP2	11270483	0.322000	0.24634	0.000000	0.03702	0.002000	0.02628	0.758000	0.26447	-0.502000	0.06596	-1.382000	0.01172	AGC		PASS	0.632	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		12	39	12	39	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15690595	15690595	+	Silent	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:15690595G>C	ENST00000396368.3	-	27	5390	c.5184C>G	c.(5182-5184)gtC>gtG	p.V1728V	KIAA0430_ENST00000548025.1_Silent_p.V1725V|KIAA0430_ENST00000551742.1_Silent_p.V1728V|KIAA0430_ENST00000602337.1_Silent_p.V1725V|KIAA0430_ENST00000540441.2_Silent_p.V1563V|KIAA0430_ENST00000344181.3_Silent_p.V1416V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1728					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V1728V(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTGCCAATTTGACTCTATTTT	0.498																																						uc002ddr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(5182-5184)GTC>GTG		limkain b1							197.0	182.0	187.0					16																	15690595		1867	4103	5970	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15690595G>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5184C>G	16.37:g.15690595G>C						KIAA0430_uc002ddq.2_Silent_p.V1562V|KIAA0430_uc010uzv.1_Silent_p.V1724V|KIAA0430_uc010uzw.1_Silent_p.V1727V	p.V1728V	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			27	5377	-			1727					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.5184C>G	CCDS10562.2																																																																																				PASS	0.498	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		20	29	20	29	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18847402	18847402	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:18847402C>A	ENST00000446231.2	-	48	8322	c.7910G>T	c.(7909-7911)tGt>tTt	p.C2637F	SMG1_ENST00000389467.3_Missense_Mutation_p.C2637F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2637					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C2633F(1)|p.C2637F(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCTCCAGACAGCCACGGAG	0.567																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(7909-7911)TGT>TTT		PI-3-kinase-related kinase SMG-1							50.0	48.0	49.0					16																	18847402		2094	4224	6318	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18847402C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7910G>T	16.37:g.18847402C>A	ENSP00000402515:p.Cys2637Phe					SMG1_uc010bwb.2_Missense_Mutation_p.C2497F|SMG1_uc010bwa.2_Missense_Mutation_p.C1368F	p.C2637F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			48	8273	-			2637					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7910G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928790	0.73327	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01538	4.79;4.79	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.07143	0.0181	L	0.32530	0.975	0.58432	D	0.999997	D	0.65815	0.995	D	0.75484	0.986	T	0.27872	-1.0061	10	0.87932	D	0	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	2637	Q96Q15	SMG1_HUMAN	F	2637	ENSP00000402515:C2637F;ENSP00000374118:C2637F	ENSP00000374118:C2637F	C	-	2	0	SMG1	18754903	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.848000	0.69458	2.739000	0.93911	0.655000	0.94253	TGT		PASS	0.567	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	15	4	15	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19027784	19027784	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:19027784G>C	ENST00000304381.5	+	3	454	c.324G>C	c.(322-324)gaG>gaC	p.E108D	TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.E108D	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	108					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.E108D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACATTCAAGAGACACAAATGA	0.498																																						uc002dfq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(322-324)GAG>GAC		transmembrane channel-like 7 isoform a							122.0	99.0	107.0					16																	19027784		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19027784G>C	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.324G>C	16.37:g.19027784G>C	ENSP00000304710:p.Glu108Asp					TMC7_uc010vao.1_Missense_Mutation_p.E108D|TMC7_uc002dfp.2_Missense_Mutation_p.E108D|TMC7_uc010vap.1_5'UTR	p.E108D	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			3	454	+			108			Extracellular (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.324G>C	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485959	0.44147	.	.	ENSG00000170537	ENST00000304381	T	0.51325	0.71	5.49	3.49	0.39957	.	0.325796	0.30159	N	0.010275	T	0.49457	0.1558	L	0.47716	1.5	0.80722	D	1	D;B;P	0.62365	0.991;0.105;0.781	P;B;B	0.59424	0.857;0.067;0.248	T	0.43343	-0.9397	10	0.26408	T	0.33	.	4.6997	0.12822	0.1822:0.0:0.6429:0.1748	.	108;108;108	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	D	108	ENSP00000304710:E108D	ENSP00000304710:E108D	E	+	3	2	TMC7	18935285	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.228000	0.32588	0.648000	0.30732	0.448000	0.29417	GAG		PASS	0.498	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	39	4	39	---	---	---	---
CCP110	9738	broad.mit.edu	37	16	19548053	19548053	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:19548053C>G	ENST00000381396.5	+	4	1309	c.1062C>G	c.(1060-1062)atC>atG	p.I354M	CCP110_ENST00000396212.2_Missense_Mutation_p.I354M|CCP110_ENST00000396208.2_Missense_Mutation_p.I354M	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	354	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.I354M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATAATGTTATCAAAAGTCTTA	0.398																																						uc002dgl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)ATC>ATG		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							44.0	44.0	44.0					16																	19548053		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19548053C>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1062C>G	16.37:g.19548053C>G	ENSP00000370803:p.Ile354Met					CP110_uc002dgk.3_Missense_Mutation_p.I354M	p.I354M			O43303	CP110_HUMAN			4	1309	+			354			Interaction with CEP76.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1062C>G	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178993	0.38511	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.17054	2.3;2.31;2.3	6.07	1.97	0.26223	.	0.780121	0.12401	N	0.472081	T	0.11239	0.0274	L	0.40543	1.245	0.23070	N	0.998347	P;P	0.45474	0.859;0.859	B;B	0.37304	0.246;0.246	T	0.25012	-1.0144	10	0.72032	D	0.01	-13.2846	2.6037	0.04873	0.1314:0.5348:0.1271:0.2068	.	354;354	O43303;O43303-2	CP110_HUMAN;.	M	354	ENSP00000379515:I354M;ENSP00000370803:I354M;ENSP00000379511:I354M	ENSP00000370803:I354M	I	+	3	3	CCP110	19455554	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	0.662000	0.25038	0.437000	0.26423	-0.165000	0.13383	ATC		PASS	0.398	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		7	25	7	25	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20565212	20565212	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:20565212C>A	ENST00000329697.6	-	5	795	c.627G>T	c.(625-627)gaG>gaT	p.E209D	ACSM2B_ENST00000565322.1_Missense_Mutation_p.E130D|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E209D|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E209D|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	209					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E209D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCTTCCAGTCTCCACACAGT	0.502																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(625-627)GAG>GAT		acyl-CoA synthetase medium-chain family member							104.0	91.0	95.0					16																	20565212		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565212C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.627G>T	16.37:g.20565212C>A	ENSP00000327453:p.Glu209Asp					ACSM2B_uc002dhk.3_Missense_Mutation_p.E209D|ACSM2B_uc010bwf.1_Missense_Mutation_p.E209D	p.E209D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			6	837	-			209					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.627G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	3.746	-0.052490	0.07362	.	.	ENSG00000066813	ENST00000329697	T	0.50001	0.76	3.36	1.32	0.21799	AMP-dependent synthetase/ligase (1);	0.282939	0.25283	N	0.031781	T	0.26195	0.0639	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04041	-1.0982	10	0.27082	T	0.32	-22.8783	5.4809	0.16723	0.0:0.4814:0.4003:0.1182	.	209;209	A8K051;Q68CK6	.;ACS2B_HUMAN	D	209	ENSP00000327453:E209D	ENSP00000327453:E209D	E	-	3	2	ACSM2B	20472713	0.611000	0.26992	0.867000	0.34043	0.053000	0.15095	-0.120000	0.10660	0.235000	0.21160	-0.233000	0.12211	GAG		PASS	0.502	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		5	46	5	46	---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24372945	24372945	+	Missense_Mutation	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:24372945T>C	ENST00000005284.3	+	4	1911	c.709T>C	c.(709-711)Tct>Cct	p.S237P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	237					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S237P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCGGTCAAGTTCTCGCTCCAC	0.567																																						uc002dmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)TCT>CCT		voltage-dependent calcium channel gamma-3							91.0	91.0	91.0					16																	24372945		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372945T>C	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.709T>C	16.37:g.24372945T>C	ENSP00000005284:p.Ser237Pro						p.S237P	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1909	+			237						Missense_Mutation	SNP	ENST00000005284.3	37	c.709T>C	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554845	0.65425	.	.	ENSG00000006116	ENST00000005284	T	0.59638	0.25	4.95	4.95	0.65309	.	0.269175	0.37178	N	0.002220	T	0.63698	0.2533	M	0.67700	2.07	0.32257	N	0.570609	D	0.58970	0.984	P	0.50754	0.649	T	0.71224	-0.4656	10	0.29301	T	0.29	-14.4893	14.3209	0.66487	0.0:0.0:0.0:1.0	.	237	O60359	CCG3_HUMAN	P	237	ENSP00000005284:S237P	ENSP00000005284:S237P	S	+	1	0	CACNG3	24280446	0.997000	0.39634	0.967000	0.41034	0.934000	0.57294	2.996000	0.49449	1.843000	0.53566	0.529000	0.55759	TCT		PASS	0.567	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		7	42	7	42	---	---	---	---
MT1A	4489	broad.mit.edu	37	16	56673832	56673832	+	Silent	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:56673832G>C	ENST00000290705.8	+	3	229	c.156G>C	c.(154-156)ggG>ggC	p.G52G	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	52	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.G52G(1)		endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTGCAAAGGGGCATCAGAGA	0.542																																						uc002ejq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)GGG>GGC		metallothionein 1A							112.0	107.0	109.0					16																	56673832		2198	4300	6498	SO:0001819	synonymous_variant	4489					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56673832G>C	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.156G>C	16.37:g.56673832G>C						MT1A_uc002eji.2_RNA	p.G52G	NM_005946	NP_005937	P04731	MT1A_HUMAN			3	229	+			52			Alpha.		Q86YX5	Silent	SNP	ENST00000290705.8	37	c.156G>C	CCDS32454.1																																																																																				PASS	0.542	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		12	48	12	48	---	---	---	---
RSPRY1	89970	broad.mit.edu	37	16	57250871	57250871	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:57250871G>T	ENST00000537866.1	+	8	1698	c.825G>T	c.(823-825)ttG>ttT	p.L275F	RSPRY1_ENST00000394420.4_Missense_Mutation_p.L275F			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	275						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.L275F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGTCACATTGGAGTCCTGGG	0.393																																						uc002elb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)TTG>TTT		ring finger and SPRY domain containing 1							161.0	147.0	152.0					16																	57250871		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57250871G>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.825G>T	16.37:g.57250871G>T	ENSP00000443176:p.Leu275Phe					RSPRY1_uc002elc.2_Missense_Mutation_p.L275F|RSPRY1_uc002eld.2_Missense_Mutation_p.L275F	p.L275F	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			8	1103	+			275					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.825G>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999285	0.74818	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.70399	-0.48;-0.48	5.76	2.78	0.32641	.	0.140582	0.48286	D	0.000200	T	0.69459	0.3113	M	0.72894	2.215	0.53688	D	0.999973	D	0.52996	0.957	P	0.47251	0.542	T	0.67864	-0.5560	10	0.66056	D	0.02	.	6.2183	0.20667	0.2886:0.0:0.5901:0.1213	.	275	Q96DX4	RSPRY_HUMAN	F	275	ENSP00000377942:L275F;ENSP00000443176:L275F	ENSP00000377942:L275F	L	+	3	2	RSPRY1	55808372	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.123000	0.41996	0.375000	0.24679	0.650000	0.86243	TTG		PASS	0.393	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		5	42	5	42	---	---	---	---
WWP2	11060	broad.mit.edu	37	16	69874130	69874130	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:69874130C>T	ENST00000359154.2	+	5	543	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	WWP2_ENST00000356003.2_Silent_p.L148L|WWP2_ENST00000569174.1_Silent_p.L148L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.L148L|WWP2_ENST00000542271.1_Silent_p.L32L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	148					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.L148L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACTGTTGATCTGGGAAATGT	0.612																																						uc002exu.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(442-444)CTG>TTG		WW domain containing E3 ubiquitin protein ligase							106.0	88.0	94.0					16																	69874130		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874130C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.442C>T	16.37:g.69874130C>T						WWP2_uc002ext.2_Silent_p.L148L|WWP2_uc002exv.1_Silent_p.L148L|WWP2_uc010vlm.1_Silent_p.L32L	p.L148L	NM_007014	NP_008945	O00308	WWP2_HUMAN			6	531	+			148					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.442C>T	CCDS10885.1																																																																																				PASS	0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		7	32	7	32	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77398203	77398203	+	Nonsense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:77398203G>C	ENST00000282849.5	-	5	1272	c.854C>G	c.(853-855)tCa>tGa	p.S285*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	285					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S285*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTCCAGCTGATCTTCTGGG	0.483																																						uc002ffc.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(853-855)TCA>TGA		ADAM metallopeptidase with thrombospondin type 1							99.0	92.0	94.0					16																	77398203		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77398203G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.854C>G	16.37:g.77398203G>C	ENSP00000282849:p.Ser285*					ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	p.S285*	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			5	1273	-			285					Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.854C>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	39	7.505423	0.98325	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.17	5.17	0.71159	.	0.071883	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.8443	0.88725	0.0:0.0:1.0:0.0	.	.	.	.	X	285	.	ENSP00000282849:S285X	S	-	2	0	ADAMTS18	75955704	1.000000	0.71417	0.993000	0.49108	0.834000	0.47266	9.128000	0.94424	2.686000	0.91538	0.591000	0.81541	TCA		PASS	0.483	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			6	26	6	26	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2995592	2995592	+	Silent	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:2995592C>T	ENST00000331459.1	-	1	698	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	233					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K233K(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTTTGTATTTCTTAGAGACTG	0.468																																						uc010vrb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(697-699)AAG>AAA		olfactory receptor, family 1, subfamily D,							100.0	104.0	103.0					17																	2995592		2203	4300	6503	SO:0001819	synonymous_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995592C>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.699G>A	17.37:g.2995592C>T							p.K233K	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	699	-			233			Cytoplasmic (Potential).		Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	c.699G>A	CCDS11019.1																																																																																				PASS	0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		11	74	11	74	---	---	---	---
ASGR1	432	broad.mit.edu	37	17	7080327	7080327	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:7080327C>A	ENST00000269299.3	-	4	655	c.256G>T	c.(256-258)Gcc>Tcc	p.A86S	ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000574388.1_Missense_Mutation_p.A47S	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	86					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.A86S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TTGACCTGGGCCTCCGTGCTC	0.682																																						uc002ges.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(256-258)GCC>TCC		asialoglycoprotein receptor 1							36.0	33.0	34.0					17																	7080327		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7080327C>A		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.256G>T	17.37:g.7080327C>A	ENSP00000269299:p.Ala86Ser					ASGR1_uc010clx.1_5'UTR	p.A86S	NM_001671	NP_001662	P07306	ASGR1_HUMAN			4	666	-			86			Potential.|Extracellular (Probable).		I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.256G>T	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	.	10.58	1.389750	0.25118	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.18657	2.2	4.87	3.83	0.44106	Hepatic lectin, N-terminal (1);	0.650085	0.14315	N	0.327385	T	0.23410	0.0566	L	0.35341	1.055	0.37531	D	0.917916	P	0.46327	0.876	P	0.54174	0.744	T	0.01140	-1.1439	10	0.12103	T	0.63	.	9.9023	0.41355	0.2032:0.7968:0.0:0.0	.	86	P07306	ASGR1_HUMAN	S	86;47	ENSP00000269299:A86S	ENSP00000269299:A86S	A	-	1	0	ASGR1	7021051	0.001000	0.12720	0.813000	0.32504	0.015000	0.08874	0.817000	0.27281	2.689000	0.91719	0.561000	0.74099	GCC		PASS	0.682	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		3	13	3	13	---	---	---	---
ZBTB4	57659	broad.mit.edu	37	17	7365801	7365801	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:7365801C>A	ENST00000311403.4	-	4	2839	c.2500G>T	c.(2500-2502)Ggg>Tgg	p.G834W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G834W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	834					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.G834W(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCAGTGCTCCCGCCACCTGCC	0.637																																						uc002ghc.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2500-2502)GGG>TGG		zinc finger and BTB domain containing 4																																				SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7365801C>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2500G>T	17.37:g.7365801C>A	ENSP00000307858:p.Gly834Trp					ZBTB4_uc002ghd.3_Missense_Mutation_p.G834W	p.G834W	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2750	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	834					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.2500G>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348251	0.24426	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.04156	3.69;3.69	5.56	3.46	0.39613	.	0.186461	0.36815	N	0.002383	T	0.07818	0.0196	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.61070	0.883	T	0.10706	-1.0618	10	0.72032	D	0.01	-18.8389	8.3546	0.32323	0.0:0.759:0.1563:0.0846	.	834	Q9P1Z0	ZBTB4_HUMAN	W	834	ENSP00000307858:G834W;ENSP00000369973:G834W	ENSP00000307858:G834W	G	-	1	0	ZBTB4	7306525	0.022000	0.18835	0.140000	0.22221	0.320000	0.28249	1.114000	0.31196	1.363000	0.46019	0.655000	0.94253	GGG		PASS	0.637	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		4	9	4	9	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|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	CM083194|CM951225	TP53	M		c.(577-579)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>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.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	p.H193L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	772	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	14	19	14	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10406144	10406144	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:10406144G>T	ENST00000226207.5	-	24	3116	c.3022C>A	c.(3022-3024)Cag>Aag	p.Q1008K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1008					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1008K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGGGTCTGCTGGTGGGCCTCC	0.493																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3022-3024)CAG>AAG		myosin, heavy chain 1, skeletal muscle, adult							126.0	123.0	124.0					17																	10406144		2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406144G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3022C>A	17.37:g.10406144G>T	ENSP00000226207:p.Gln1008Lys					uc002gml.1_Intron	p.Q1008K	NM_005963	NP_005954	P12882	MYH1_HUMAN			24	3116	-			1008			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3022C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150721	0.94645	.	.	ENSG00000109061	ENST00000226207	D	0.88201	-2.35	5.24	5.24	0.73138	.	0.000000	0.41194	U	0.000936	D	0.85847	0.5792	L	0.45422	1.42	0.53688	D	0.999979	B	0.27910	0.193	B	0.23574	0.047	T	0.82550	-0.0401	10	0.38643	T	0.18	.	19.1915	0.93669	0.0:0.0:1.0:0.0	.	1008	P12882	MYH1_HUMAN	K	1008	ENSP00000226207:Q1008K	ENSP00000226207:Q1008K	Q	-	1	0	MYH1	10346869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.620000	0.88729	0.557000	0.71058	CAG		PASS	0.493	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		6	88	6	88	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10428145	10428145	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:10428145G>T	ENST00000245503.5	-	34	5284	c.4900C>A	c.(4900-4902)Cag>Aag	p.Q1634K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1634K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1634					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q1634K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGTTCAGCTGGATTTCCATT	0.517																																						uc010coi.2																			1	Substitution - Missense(1)	p.Q1634L(1)	lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4900-4902)CAG>AAG		myosin heavy chain IIa							205.0	178.0	187.0					17																	10428145		2203	4298	6501	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428145G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4900C>A	17.37:g.10428145G>T	ENSP00000245503:p.Gln1634Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1634K|MYH2_uc010coj.2_Intron	p.Q1634K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			34	5028	-			1634			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4900C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733818	0.89482	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Myosin tail (1);	0.000000	0.37304	U	0.002144	D	0.85978	0.5823	M	0.91818	3.245	0.58432	D	0.999999	P	0.38250	0.624	B	0.42625	0.393	D	0.88203	0.2885	10	0.72032	D	0.01	.	19.4557	0.94886	0.0:0.0:1.0:0.0	.	1634	Q9UKX2	MYH2_HUMAN	K	1634	ENSP00000245503:Q1634K;ENSP00000380367:Q1634K	ENSP00000245503:Q1634K	Q	-	1	0	MYH2	10368870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.543000	0.98089	2.823000	0.97156	0.591000	0.81541	CAG		PASS	0.517	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		40	16	40	16	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11603086	11603086	+	Silent	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:11603086C>G	ENST00000262442.4	+	23	4979	c.4911C>G	c.(4909-4911)gcC>gcG	p.A1637A	DNAH9_ENST00000454412.2_Silent_p.A1637A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1637	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A1637A(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAACATGGCCAAGATGCGAT	0.473																																						uc002gne.2																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(4909-4911)GCC>GCG		dynein, axonemal, heavy chain 9 isoform 2							136.0	106.0	116.0					17																	11603086		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11603086C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4911C>G	17.37:g.11603086C>G						DNAH9_uc010coo.2_Silent_p.A931A	p.A1637A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	23	4979	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1637			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.4911C>G	CCDS11160.1																																																																																				PASS	0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	35	8	35	---	---	---	---
CUEDC1	404093	broad.mit.edu	37	17	55948728	55948728	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:55948728G>T	ENST00000577830.1	-	6	1200	c.787C>A	c.(787-789)Cga>Aga	p.R263R	CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000360238.2_Silent_p.R263R|CUEDC1_ENST00000577840.1_Silent_p.R126R|CUEDC1_ENST00000407144.2_Silent_p.R263R	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	263								p.R263R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TATTTCAATCGATCTGGAAAA	0.542																																						uc002ivd.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(787-789)CGA>AGA		CUE domain-containing 1							89.0	89.0	89.0					17																	55948728		2203	4300	6503	SO:0001819	synonymous_variant	404093							g.chr17:55948728G>T	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.787C>A	17.37:g.55948728G>T						CUEDC1_uc002ive.1_Silent_p.R263R	p.R263R	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN			6	1506	-			263					D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	c.787C>A	CCDS11599.1																																																																																				PASS	0.542	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		9	40	9	40	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60788625	60788625	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:60788625C>G	ENST00000311269.5	-	9	2569	c.2295G>C	c.(2293-2295)atG>atC	p.M765I	MARCH10_ENST00000583600.1_Missense_Mutation_p.M803I|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.M764I|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.M765I|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	765					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.M765I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGTTGAGCCTCATGAGTTCTG	0.507																																						uc010ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2293-2295)ATG>ATC		ring finger protein 190							137.0	127.0	131.0					17																	60788625		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60788625C>G	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2295G>C	17.37:g.60788625C>G	ENSP00000311496:p.Met765Ile					MARCH10_uc002jag.3_Missense_Mutation_p.M765I|MARCH10_uc010dds.2_Missense_Mutation_p.M803I|MARCH10_uc002jah.2_Missense_Mutation_p.M764I|uc002jaj.1_Intron|uc002jak.2_Intron	p.M765I	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			9	2533	-			765					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.2295G>C	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312693	0.23908	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.12984	2.64;2.64;2.63	4.84	4.84	0.62591	.	0.148254	0.31963	N	0.006789	T	0.13670	0.0331	L	0.48362	1.52	0.35776	D	0.821299	P;P;P	0.42692	0.682;0.787;0.682	B;B;B	0.36666	0.115;0.23;0.115	T	0.17776	-1.0358	10	0.49607	T	0.09	-8.5416	14.8752	0.70488	0.0:1.0:0.0:0.0	.	764;764;765	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	I	765;765;764	ENSP00000416177:M765I;ENSP00000311496:M765I;ENSP00000443746:M764I	ENSP00000311496:M765I	M	-	3	0	MARCH10	58142357	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	4.545000	0.60698	2.258000	0.74832	0.561000	0.74099	ATG		PASS	0.507	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		16	85	16	85	---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856037	62856037	+	Silent	SNP	T	T	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:62856037T>C	ENST00000584306.1	-	11	4757	c.4227A>G	c.(4225-4227)ccA>ccG	p.P1409P	LRRC37A3_ENST00000400877.3_Silent_p.P447P|LRRC37A3_ENST00000334962.5_Silent_p.P386P|LRRC37A3_ENST00000319651.5_Silent_p.P1409P|LRRC37A3_ENST00000339474.5_Silent_p.P527P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1409						integral component of membrane (GO:0016021)		p.P1409P(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGTTCCTTCTGGCATGTTAG	0.383																																						uc002jey.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4225-4227)CCA>CCG		leucine rich repeat containing 37, member A3							39.0	40.0	40.0					17																	62856037		2180	4224	6404	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62856037T>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4227A>G	17.37:g.62856037T>C						LRRC37A3_uc010wqg.1_Silent_p.P527P|LRRC37A3_uc002jex.1_Silent_p.P386P|LRRC37A3_uc010wqf.1_Silent_p.P447P|LRRC37A3_uc010dek.1_Silent_p.P415P	p.P1409P	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4758	-			1409			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.4227A>G	CCDS32708.1																																																																																				PASS	0.383	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		5	88	5	88	---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66033297	66033297	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:66033297T>A	ENST00000537025.2	+	2	669	c.49T>A	c.(49-51)Ttc>Atc	p.F17I	KPNA2_ENST00000330459.3_Missense_Mutation_p.F17I			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	17	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.F17I(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTTCACAGATTCAAGAACAA	0.423																																						uc002jgk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(49-51)TTC>ATC		karyopherin alpha 2							152.0	156.0	155.0					17																	66033297		2203	4296	6499	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66033297T>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.49T>A	17.37:g.66033297T>A	ENSP00000438483:p.Phe17Ile					KPNA2_uc002jgl.2_Missense_Mutation_p.F17I	p.F17I	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	181	+	all_cancers(12;1.18e-09)		17			IBB.		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.49T>A	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534817	0.45073	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.54279	0.58;0.58	4.5	4.5	0.54988	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.77778	0.4181	M	0.92169	3.28	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.83877	0.0277	10	0.87932	D	0	.	13.8006	0.63196	0.0:0.0:0.0:1.0	.	17	P52292	IMA2_HUMAN	I	17	ENSP00000332455:F17I;ENSP00000438483:F17I	ENSP00000332455:F17I	F	+	1	0	KPNA2	63463759	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.257000	0.78362	1.669000	0.50854	0.254000	0.18369	TTC		PASS	0.423	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		174	71	174	71	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67119511	67119511	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:67119511C>G	ENST00000284425.2	-	10	1479	c.1305G>C	c.(1303-1305)ttG>ttC	p.L435F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	435					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L435F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATGATGAATTCAAGAAAAATA	0.358																																						uc002jhw.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1303-1305)TTG>TTC		ATP-binding cassette, sub-family A, member 6							97.0	94.0	95.0					17																	67119511		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67119511C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1305G>C	17.37:g.67119511C>G	ENSP00000284425:p.Leu435Phe						p.L435F	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			10	1480	-	Breast(10;5.65e-12)		435					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1305G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753236	0.31046	.	.	ENSG00000154262	ENST00000284425	D	0.89123	-2.47	4.91	2.92	0.33932	.	0.000000	0.38381	N	0.001711	D	0.85588	0.5731	L	0.46741	1.465	0.80722	D	1	B	0.22276	0.067	B	0.32677	0.15	D	0.84119	0.0405	10	0.72032	D	0.01	.	10.0439	0.42175	0.0:0.7764:0.143:0.0806	.	435	Q8N139	ABCA6_HUMAN	F	435	ENSP00000284425:L435F	ENSP00000284425:L435F	L	-	3	2	ABCA6	64631106	1.000000	0.71417	0.898000	0.35279	0.484000	0.33280	1.253000	0.32886	1.418000	0.47098	-0.169000	0.13324	TTG		PASS	0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		32	24	32	24	---	---	---	---
CD300LB	124599	broad.mit.edu	37	17	72519002	72519002	+	Missense_Mutation	SNP	T	T	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:72519002T>A	ENST00000392621.1	-	4	596	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	161					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I198F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						ATGAGCAAGATGGGCACCTTC	0.577																																						uc002jkx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)ATC>TTC		CD300 molecule-like family member b							125.0	107.0	113.0					17																	72519002		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72519002T>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.592A>T	17.37:g.72519002T>A	ENSP00000376397:p.Ile198Phe						p.I198F	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			4	605	-			161			Helical; (Potential).		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.592A>T	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409467	0.62399	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	.	.	.	4.61	-4.65	0.03339	.	1.340200	0.05271	N	0.517605	T	0.46521	0.1397	L	0.52573	1.65	0.46028	D	0.99882	D	0.62365	0.991	P	0.49301	0.606	T	0.56968	-0.7891	9	0.66056	D	0.02	-2.9581	0.2241	0.00172	0.2618:0.1727:0.2682:0.2973	.	161	A8K4G0	CLM7_HUMAN	F	161;198	.	ENSP00000317337:I198F	I	-	1	0	CD300LB	70030597	0.459000	0.25768	0.124000	0.21820	0.948000	0.59901	-0.814000	0.04486	-1.077000	0.03121	0.379000	0.24179	ATC		PASS	0.577	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		7	152	7	152	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74150388	74150388	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr17:74150388C>T	ENST00000269391.6	-	17	1918	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000586661.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.E574K|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	596			E -> V (in dbSNP:rs59053255).				zinc ion binding (GO:0008270)	p.E1199K(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)			GATCCATCCTCTTCCTCTATA	0.423																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1786-1788)GAG>AAG		ring finger protein 157							186.0	169.0	175.0					17																	74150388		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74150388C>T	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.1786G>A	17.37:g.74150388C>T	ENSP00000269391:p.Glu596Lys					RNF157_uc002jra.2_Missense_Mutation_p.E574K|uc002jrb.1_5'Flank	p.E596K	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		17	1855	-			596					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1786G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430621	0.83776	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.34275	1.67;1.37	5.28	5.28	0.74379	.	0.219914	0.45867	D	0.000338	T	0.38799	0.1054	L	0.59436	1.845	0.80722	D	1	P;P	0.42692	0.787;0.732	B;B	0.37601	0.254;0.254	T	0.43261	-0.9402	10	0.66056	D	0.02	-30.2529	19.2671	0.93993	0.0:1.0:0.0:0.0	.	574;596	Q96PX1-2;Q96PX1	.;RN157_HUMAN	K	596;574	ENSP00000269391:E596K;ENSP00000321837:E574K	ENSP00000269391:E596K	E	-	1	0	RNF157	71661983	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.708000	0.68377	2.615000	0.88500	0.563000	0.77884	GAG		PASS	0.423	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		203	62	203	62	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8113592	8113592	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr18:8113592G>A	ENST00000332175.8	+	12	3002	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	PTPRM_ENST00000444013.1_Silent_p.L442L|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Silent_p.L655L|PTPRM_ENST00000400053.4_Silent_p.L593L|PTPRM_ENST00000580170.1_Silent_p.L655L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	655	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L655L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTCTCTGCTGAACTCACAGT	0.418																																						uc002knn.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1963-1965)CTG>CTA		protein tyrosine phosphatase, receptor type, M							115.0	108.0	110.0					18																	8113592		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113592G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1965G>A	18.37:g.8113592G>A						PTPRM_uc010dkv.2_Silent_p.L655L|PTPRM_uc010wzl.1_Silent_p.L442L	p.L655L	NM_002845	NP_002836	P28827	PTPRM_HUMAN			12	2468	+		Colorectal(10;0.234)	655			Fibronectin type-III 4.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.1965G>A	CCDS11840.1																																																																																				PASS	0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			31	56	31	56	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28587056	28587056	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr18:28587056C>A	ENST00000360428.4	-	12	1785	c.1705G>T	c.(1705-1707)Gat>Tat	p.D569Y	DSC3_ENST00000434452.1_Missense_Mutation_p.D569Y	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	569	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.D569Y(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCATTTACATCTTCAATGTTC	0.333																																						uc002kwj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1705-1707)GAT>TAT		desmocollin 3 isoform Dsc3a preproprotein							102.0	93.0	96.0					18																	28587056		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28587056C>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1705G>T	18.37:g.28587056C>A	ENSP00000353608:p.Asp569Tyr					DSC3_uc002kwi.3_Missense_Mutation_p.D569Y	p.D569Y	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	1860	-			569			Cadherin 4.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1705G>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612956	0.46631	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.67865	-0.29;-0.29	5.26	5.26	0.73747	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34178	N	0.004181	D	0.89842	0.6832	H	0.99357	4.53	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.986	D	0.93855	0.7148	10	0.87932	D	0	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	569;569	Q14574;Q14574-2	DSC3_HUMAN;.	Y	569	ENSP00000353608:D569Y;ENSP00000392068:D569Y	ENSP00000353608:D569Y	D	-	1	0	DSC3	26841054	0.988000	0.35896	1.000000	0.80357	0.100000	0.18952	1.889000	0.39718	2.722000	0.93159	0.563000	0.77884	GAT		PASS	0.333	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		10	41	10	41	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28934414	28934414	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr18:28934414G>T	ENST00000257192.4	+	15	2467	c.2255G>T	c.(2254-2256)gGa>gTa	p.G752V	DSG1_ENST00000462981.2_Missense_Mutation_p.G111V|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	752					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.G752V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GATACCCTGGGACCTAAATTT	0.468																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(2254-2256)GGA>GTA		desmoglein 1 preproprotein							118.0	119.0	119.0					18																	28934414		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934414G>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2255G>T	18.37:g.28934414G>T	ENSP00000257192:p.Gly752Val					DSG1_uc010xbp.1_Missense_Mutation_p.G111V	p.G752V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2467	+			752			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2255G>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219464	0.39201	.	.	ENSG00000134760	ENST00000257192	D	0.83755	-1.76	6.04	6.04	0.98038	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000002	D	0.92880	0.7735	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92954	0.6383	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	752	Q02413	DSG1_HUMAN	V	752	ENSP00000257192:G752V	ENSP00000257192:G752V	G	+	2	0	DSG1	27188412	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.852000	0.69488	2.873000	0.98535	0.563000	0.77884	GGA		PASS	0.468	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		34	65	34	65	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59166620	59166620	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr18:59166620G>C	ENST00000262717.4	+	3	846	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	CDH20_ENST00000538374.1_Missense_Mutation_p.E150Q|CDH20_ENST00000536675.2_Missense_Mutation_p.E150Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	150	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E150Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCCCGAGTCAGAGTTCATCAT	0.542																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(448-450)GAG>CAG		cadherin 20, type 2 preproprotein							63.0	63.0	63.0					18																	59166620		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166620G>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.448G>C	18.37:g.59166620G>C	ENSP00000262717:p.Glu150Gln					CDH20_uc002lif.2_Missense_Mutation_p.E144Q	p.E150Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			2	460	+		Colorectal(73;0.186)	150			Cadherin 1.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.448G>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731372	0.89390	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.50277	0.75;0.75;0.75	5.97	5.97	0.96955	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.76838	2.35	0.80722	D	1	P	0.45715	0.865	P	0.50440	0.641	T	0.66388	-0.5936	10	0.66056	D	0.02	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	150	Q9HBT6	CAD20_HUMAN	Q	150	ENSP00000444767:E150Q;ENSP00000442226:E150Q;ENSP00000262717:E150Q	ENSP00000262717:E150Q	E	+	1	0	CDH20	57317600	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.869000	0.99810	2.834000	0.97654	0.650000	0.86243	GAG		PASS	0.542	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		13	24	13	24	---	---	---	---
RNF152	220441	broad.mit.edu	37	18	59483298	59483298	+	Silent	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr18:59483298C>A	ENST00000312828.3	-	2	1498	c.399G>T	c.(397-399)gtG>gtT	p.V133V		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	133					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V133V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CAGGGATGGTCACCACGGTGA	0.677																																						uc002lih.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(397-399)GTG>GTT		ring finger protein 152							56.0	59.0	58.0					18																	59483298		2203	4300	6503	SO:0001819	synonymous_variant	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483298C>A	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.399G>T	18.37:g.59483298C>A							p.V133V	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN			2	811	-		Colorectal(73;0.186)	133					B3KV99|Q52LA4	Silent	SNP	ENST00000312828.3	37	c.399G>T	CCDS11978.1																																																																																				PASS	0.677	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		13	14	13	14	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2129329	2129329	+	Missense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:2129329C>G	ENST00000345016.5	-	7	951	c.720G>C	c.(718-720)aaG>aaC	p.K240N	AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.K240N|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	240					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.K240N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGATGATCTTGATGAGGA	0.597																																						uc002luz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)AAG>AAC		adaptor-related protein complex 3, delta 1							153.0	153.0	153.0					19																	2129329		2008	4174	6182	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2129329C>G	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.720G>C	19.37:g.2129329C>G	ENSP00000344055:p.Lys240Asn					AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.K240N	p.K240N	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	943	-		Hepatocellular(1079;0.137)	240					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.720G>C	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769024	0.69992	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.28255	1.62;1.62	4.85	-2.74	0.05932	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.69194	-0.5209	10	0.87932	D	0	-31.9733	10.92	0.47158	0.0:0.2796:0.0:0.7204	.	240;240	O14617-5;O14617	.;AP3D1_HUMAN	N	240	ENSP00000344055:K240N;ENSP00000347416:K240N	ENSP00000341579:K240N	K	-	3	2	AP3D1	2080329	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	1.177000	0.31969	-0.360000	0.08138	0.655000	0.94253	AAG		PASS	0.597	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			10	8	10	8	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2345327	2345327	+	RNA	SNP	C	C	T	rs200330593	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:2345327C>T	ENST00000452401.2	+	0	1430							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.I450I(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCACCATCGGTAAGTGCC	0.652													.|||	7	0.00139776	0.0045	0.0014	5008	,	,		15391	0.0		0.0	False		,,,				2504	0.0					uc002lvs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1351-1353)ATC>ATT		signal peptide peptidase-like 2B isoform 2			,	21,3995		0,21,1987	67.0	76.0	73.0		1352,1352	-1.7	0.9	19		73	0,8308		0,0,4154	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	SPPL2B	NM_001077238.1,NM_152988.2	,	0,21,6141	TT,TC,CC		0.0,0.5229,0.1704	,	451/512,451/593	2345327	21,12303	2008	4154	6162			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2345327C>T		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2345327C>T						SPPL2B_uc002lvr.2_Silent_p.I451I	p.I451I	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1433	+		Hepatocellular(1079;0.137)	451			Helical; (Potential).		D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Silent	SNP	ENST00000452401.2	37	c.1353C>T																																																																																					PASS	0.652	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		5	12	5	12	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7122698	7122698	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:7122698G>T	ENST00000302850.5	-	19	3598	c.3456C>A	c.(3454-3456)gcC>gcA	p.A1152A	INSR_ENST00000341500.5_Silent_p.A1140A	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.A1152A(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAAACTTCTTGGCGTTCAGGT	0.502																																						uc002mgd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(3454-3456)GCC>GCA		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						87.0	80.0	82.0					19																	7122698		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7122698G>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3456C>A	19.37:g.7122698G>T						INSR_uc002mge.1_Silent_p.A1140A	p.A1152A	NM_000208	NP_000199	P06213	INSR_HUMAN			19	3565	-			1152			Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.3456C>A	CCDS12176.1																																																																																				PASS	0.502	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			6	51	6	51	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16025601	16025601	+	Missense_Mutation	SNP	A	A	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:16025601A>T	ENST00000402119.4	-	9	1646	c.1220T>A	c.(1219-1221)gTg>gAg	p.V407E	CYP4F11_ENST00000326742.8_Missense_Mutation_p.V407E|CYP4F11_ENST00000248041.8_Missense_Mutation_p.V407E|CYP4F11_ENST00000591841.1_Missense_Mutation_p.V82E	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.V407E(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTCTGGGAGCACAAAGTCCTG	0.647																																						uc002nbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1219-1221)GTG>GAG		cytochrome P450 family 4 subfamily F polypeptide							79.0	81.0	80.0					19																	16025601		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025601A>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1220T>A	19.37:g.16025601A>T	ENSP00000384588:p.Val407Glu					CYP4F11_uc010eab.1_Missense_Mutation_p.V407E|CYP4F11_uc002nbt.2_Missense_Mutation_p.V407E	p.V407E	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			10	1256	-			407						Missense_Mutation	SNP	ENST00000402119.4	37	c.1220T>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	10.50	1.367969	0.24771	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68479	-0.33;-0.33;-0.33	2.74	-1.14	0.09741	.	1.311560	0.06359	U	0.711412	T	0.53769	0.1817	L	0.31120	0.905	0.09310	N	1	B;B	0.23735	0.09;0.029	B;B	0.35899	0.059;0.213	T	0.49351	-0.8949	10	0.37606	T	0.19	.	2.4004	0.04400	0.3368:0.0:0.3111:0.3521	.	407;407	F8W978;Q9HBI6	.;CP4FB_HUMAN	E	407	ENSP00000384588:V407E;ENSP00000248041:V407E;ENSP00000319859:V407E	ENSP00000248041:V407E	V	-	2	0	CYP4F11	15886601	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.452000	0.06787	-0.057000	0.13199	0.379000	0.24179	GTG		PASS	0.647	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		45	15	45	15	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24309470	24309470	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:24309470C>T	ENST00000357002.4	+	4	783	c.668C>T	c.(667-669)tCa>tTa	p.S223L	ZNF254_ENST00000342944.6_Missense_Mutation_p.S138L	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	223					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S223L(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATTGGTCCTCAACCCTTACT	0.323																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)TCA>TTA		zinc finger protein 254							47.0	52.0	50.0					19																	24309470		2203	4291	6494	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309470C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.668C>T	19.37:g.24309470C>T	ENSP00000349494:p.Ser223Leu					ZNF254_uc010xrk.1_Missense_Mutation_p.S138L	p.S223L	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	802	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	223			C2H2-type 1; degenerate.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.668C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530458	0.27387	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.58797	0.31;0.31	1.12	-0.692	0.11301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60444	0.2269	M	0.80616	2.505	0.09310	N	1	P	0.47604	0.898	P	0.49502	0.613	T	0.54788	-0.8241	9	0.72032	D	0.01	.	2.6763	0.05082	0.3059:0.3888:0.3053:0.0	.	223	O75437	ZN254_HUMAN	L	138;223;223	ENSP00000445527:S138L;ENSP00000349494:S223L	ENSP00000445527:S138L	S	+	2	0	ZNF254	24101310	0.000000	0.05858	0.447000	0.26932	0.464000	0.32679	-1.121000	0.03270	0.536000	0.28733	0.313000	0.20887	TCA		PASS	0.323	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		44	33	44	33	---	---	---	---
RBM42	79171	broad.mit.edu	37	19	36120495	36120495	+	Missense_Mutation	SNP	A	A	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:36120495A>G	ENST00000262633.4	+	2	307	c.202A>G	c.(202-204)Acg>Gcg	p.T68A	RBM42_ENST00000592202.1_Missense_Mutation_p.T68A|RBM42_ENST00000360475.4_Missense_Mutation_p.T68A|RBM42_ENST00000589871.1_Missense_Mutation_p.T68A|RBM42_ENST00000589559.1_Missense_Mutation_p.T68A|RBM42_ENST00000588161.1_Missense_Mutation_p.T68A|RBM42_ENST00000586618.1_Missense_Mutation_p.T68A	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T68A(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACTGTCCCCACGGTCCCCAC	0.592																																						uc002oan.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)ACG>GCG		RNA binding motif protein 42							87.0	82.0	84.0					19																	36120495		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36120495A>G	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.202A>G	19.37:g.36120495A>G	ENSP00000262633:p.Thr68Ala					RBM42_uc010xsx.1_Missense_Mutation_p.T68A|RBM42_uc010eef.2_Missense_Mutation_p.T68A|RBM42_uc002oao.2_Missense_Mutation_p.T68A|RBM42_uc002oap.2_Missense_Mutation_p.T68A|RBM42_uc002oaq.2_Missense_Mutation_p.T68A|RBM42_uc010eeg.2_Missense_Mutation_p.T68A	p.T68A	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	278	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		68					O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.202A>G	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346046	0.41599	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.04917	3.53;3.53	3.86	3.86	0.44501	.	0.362035	0.23345	N	0.049183	T	0.06781	0.0173	N	0.08118	0	0.24492	N	0.994295	B;P;P;P;B	0.49696	0.223;0.927;0.927;0.927;0.01	B;P;P;P;B	0.56563	0.091;0.801;0.801;0.801;0.009	T	0.35475	-0.9787	10	0.30854	T	0.27	-8.4857	9.3665	0.38228	1.0:0.0:0.0:0.0	.	68;68;68;68;68	B4DWT0;Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;.;RBM42_HUMAN	A	68	ENSP00000262633:T68A;ENSP00000353663:T68A	ENSP00000262633:T68A	T	+	1	0	RBM42	40812335	0.721000	0.28007	1.000000	0.80357	0.287000	0.27160	2.476000	0.45171	1.974000	0.57490	0.533000	0.62120	ACG		PASS	0.592	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		15	54	15	54	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36333142	36333142	+	Silent	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:36333142C>G	ENST00000378910.5	-	19	2546	c.2547G>C	c.(2545-2547)gtG>gtC	p.V849V	NPHS1_ENST00000353632.6_Silent_p.V849V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	849	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.V849V(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCTGCAGCCACCTTAGTTA	0.602																																						uc002oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2545-2547)GTG>GTC		nephrin precursor							27.0	26.0	26.0					19																	36333142		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333142C>G		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2547G>C	19.37:g.36333142C>G						NPHS1_uc010eem.1_5'Flank	p.V849V	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		19	2547	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		849			Ig-like C2-type 8.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2547G>C	CCDS32996.1																																																																																				PASS	0.602	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			3	10	3	10	---	---	---	---
TBCB	1155	broad.mit.edu	37	19	36611661	36611661	+	Missense_Mutation	SNP	G	G	C	rs376064713		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:36611661G>C	ENST00000221855.3	+	3	883	c.308G>C	c.(307-309)cGg>cCg	p.R103P	TBCB_ENST00000589996.1_Missense_Mutation_p.R103P|TBCB_ENST00000585746.1_Missense_Mutation_p.R52P|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000586868.1_Intron	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	103					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.R103P(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACGTGTCCCGGGTGGAGAAG	0.642																																						uc002odg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)CGG>CCG		cytoskeleton associated protein 1		G	PRO/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	71.0	77.0		308	0.6	1.0	19		77	0,8600		0,0,4300	no	missense	TBCB	NM_001281.2	103	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	103/245	36611661	1,13005	2203	4300	6503	SO:0001583	missense	1155				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	g.chr19:36611661G>C	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"""cytoskeleton-associated protein 1"", ""cytoskeleton associated protein 1"""	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.308G>C	19.37:g.36611661G>C	ENSP00000221855:p.Arg103Pro					TBCB_uc002odh.1_Missense_Mutation_p.R84P	p.R103P	NM_001281	NP_001272	Q99426	TBCB_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	883	+	Esophageal squamous(110;0.162)		103					O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	c.308G>C	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826111	0.16749	2.27E-4	0.0	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.91521	-2.86	5.22	0.639	0.17747	Cytoskeleton-associated protein, Gly-rich domain (1);	0.397768	0.27306	N	0.019966	T	0.80803	0.4693	N	0.26042	0.785	0.80722	D	1	P;B	0.37158	0.585;0.0	B;B	0.35550	0.205;0.001	T	0.70662	-0.4810	10	0.33940	T	0.23	-9.9809	7.5576	0.27833	0.6041:0.0:0.3959:0.0	.	52;103	Q6FGY5;Q99426	.;TBCB_HUMAN	P	103	ENSP00000221855:R103P	ENSP00000221855:R103P	R	+	2	0	TBCB	41303501	0.513000	0.26194	0.994000	0.49952	0.133000	0.20885	0.391000	0.20784	-0.003000	0.14444	-0.404000	0.06349	CGG		PASS	0.642	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		21	18	21	18	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882630	38882630	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:38882630G>A	ENST00000338502.4	+	2	325	c.222G>A	c.(220-222)aaG>aaA	p.K74K	SPRED3_ENST00000587013.1_Silent_p.K118K|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Silent_p.K74K	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	74	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)		p.K74K(2)		central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTTACAACAAGGTGAATCCCA	0.542																																						uc002oim.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(220-222)AAG>AAA		sprouty-related, EVH1 domain containing 3							131.0	129.0	130.0					19																	38882630		2017	4191	6208	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38882630G>A		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.222G>A	19.37:g.38882630G>A						SPRED3_uc002oil.1_Silent_p.K74K	p.K74K	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	226	+	all_cancers(60;3.4e-06)		74			WH1.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.222G>A	CCDS42560.1																																																																																				PASS	0.542	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		15	98	15	98	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42863021	42863021	+	Missense_Mutation	SNP	G	G	T	rs201626121		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:42863021G>T	ENST00000251268.6	+	30	5258	c.5258G>T	c.(5257-5259)cGg>cTg	p.R1753L	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1686L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1753					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R1294L(1)|p.R1753L(1)|p.R1686L(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGGGGTTCCGGGAAGTCAGG	0.577																																						uc002otl.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(5056-5058)CGG>CTG		multiple EGF-like-domains 8							56.0	53.0	54.0					19																	42863021		2202	4300	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42863021G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5258G>T	19.37:g.42863021G>T	ENSP00000251268:p.Arg1753Leu					MEGF8_uc002otm.3_Missense_Mutation_p.R1294L	p.R1686L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			29	5692	+		Prostate(69;0.00682)	1753			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5057G>T		.	.	.	.	.	.	.	.	.	.	G	5.944	0.358200	0.11239	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21031	2.03;2.03	2.75	0.58	0.17402	Galactose oxidase/kelch, beta-propeller (1);	2.803320	0.01697	N	0.026983	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.27400	-1.0075	10	0.59425	D	0.04	7.2188	4.1751	0.10348	0.3521:0.0:0.6479:0.0	.	1753;1686	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	L	1686;1753	ENSP00000334219:R1686L;ENSP00000251268:R1753L	ENSP00000251268:R1753L	R	+	2	0	MEGF8	47554861	0.000000	0.05858	0.005000	0.12908	0.053000	0.15095	-0.226000	0.09139	0.490000	0.27771	0.462000	0.41574	CGG		PASS	0.577	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		8	7	8	7	---	---	---	---
CEACAM8	1088	broad.mit.edu	37	19	43092953	43092953	+	Missense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:43092953C>A	ENST00000244336.5	-	4	1042	c.941G>T	c.(940-942)aGg>aTg	p.R314M	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	314	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R314M(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TGTGATCATCCTGACTGTGGT	0.478																																						uc002oud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(940-942)AGG>ATG		carcinoembryonic antigen-related cell adhesion							192.0	178.0	183.0					19																	43092953		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43092953C>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.941G>T	19.37:g.43092953C>A	ENSP00000244336:p.Arg314Met					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.R314M	NM_001816	NP_001807	P31997	CEAM8_HUMAN			4	1043	-		Prostate(69;0.00899)	314			Ig-like C2-type 2.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.941G>T	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	5.587	0.293074	0.10567	.	.	ENSG00000124469	ENST00000244336	T	0.13657	2.57	2.41	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03434	0.0099	N	0.01048	-1.04	0.09310	N	1	B	0.19200	0.034	B	0.23018	0.043	T	0.38650	-0.9651	9	0.41790	T	0.15	.	2.2009	0.03923	0.4629:0.1654:0.0:0.3718	.	314	P31997	CEAM8_HUMAN	M	314	ENSP00000244336:R314M	ENSP00000244336:R314M	R	-	2	0	CEACAM8	47784793	0.004000	0.15560	0.124000	0.21820	0.220000	0.24768	-0.148000	0.10219	-0.245000	0.09625	-0.680000	0.03767	AGG		PASS	0.478	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			6	91	6	91	---	---	---	---
TEX101	83639	broad.mit.edu	37	19	43910665	43910665	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:43910665G>A	ENST00000602198.1	+	3	451	c.9G>A	c.(7-9)gcG>gcA	p.A3A	TEX101_ENST00000253435.7_Silent_p.A3A	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	0						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A3A(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				gcatgggggcgaggcaggtac	0.572																																						uc002owk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7-9)GCG>GCA		testis expressed 101 isoform 1							62.0	67.0	65.0					19																	43910665		2203	4299	6502	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43910665G>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000602198.1:c.9G>A	19.37:g.43910665G>A							p.A3A	NM_031451	NP_113639	Q9BY14	TX101_HUMAN			4	570	+		Prostate(69;0.0199)	Error:Variant_position_missing_in_Q9BY14_after_alignment					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000602198.1	37	c.9G>A	CCDS12619.1																																																																																				PASS	0.572	TEX101-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463173.1	NM_031451		8	11	8	11	---	---	---	---
TMEM160	54958	broad.mit.edu	37	19	47549873	47549873	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:47549873G>T	ENST00000253047.6	-	2	294	c.279C>A	c.(277-279)gaC>gaA	p.D93E		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	93						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.D93E(1)		lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		CCCGACCCATGTCACTCTGCA	0.617																																						uc002pfz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)GAC>GAA		transmembrane protein 160							126.0	112.0	117.0					19																	47549873		2203	4300	6503	SO:0001583	missense	54958					integral to membrane		g.chr19:47549873G>T	AK000519	CCDS12695.1	19q13.32	2008-02-05				ENSG00000130748			26042	protein-coding gene	gene with protein product						12477932	Standard	XM_005259027		Approved	FLJ20512	uc002pfz.3	Q9NX00		ENST00000253047.6:c.279C>A	19.37:g.47549873G>T	ENSP00000253047:p.Asp93Glu						p.D93E	NM_017854	NP_060324	Q9NX00	TM160_HUMAN		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)	2	289	-		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)	93					Q9BU41	Missense_Mutation	SNP	ENST00000253047.6	37	c.279C>A	CCDS12695.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041808	0.35989	.	.	ENSG00000130748	ENST00000253047	T	0.44482	0.92	4.77	3.74	0.42951	.	0.141136	0.47093	D	0.000257	T	0.21186	0.0510	N	0.08118	0	0.38869	D	0.95664	P	0.41393	0.748	B	0.36959	0.237	T	0.09100	-1.0690	10	0.38643	T	0.18	-18.9201	10.2553	0.43394	0.094:0.0:0.906:0.0	.	93	Q9NX00	TM160_HUMAN	E	93	ENSP00000253047:D93E	ENSP00000253047:D93E	D	-	3	2	TMEM160	52241713	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	2.273000	0.43381	1.248000	0.43934	0.305000	0.20034	GAC		PASS	0.617	TMEM160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466666.1	NM_017854		10	78	10	78	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49377887	49377887	+	Nonsense_Mutation	SNP	C	C	G			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:49377887C>G	ENST00000200453.5	+	2	1666	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	466	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.S466*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAAGCTGAGTCAGACCCACAT	0.567																																						uc002pky.3																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(1396-1398)TCA>TGA		protein phosphatase 1, regulatory subunit 15A							73.0	73.0	73.0					19																	49377887		2203	4300	6503	SO:0001587	stop_gained	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377887C>G	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1397C>G	19.37:g.49377887C>G	ENSP00000200453:p.Ser466*						p.S466*	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1666	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	466			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Nonsense_Mutation	SNP	ENST00000200453.5	37	c.1397C>G	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548964	0.96488	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	.	.	.	4.46	-4.12	0.03916	.	4.056660	0.00597	N	0.000361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	4.0318	1.0777	0.01636	0.1404:0.3092:0.2754:0.275	.	.	.	.	X	466;306;424	.	ENSP00000200453:S466X	S	+	2	0	PPP1R15A	54069699	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.216000	0.02982	-0.712000	0.04988	0.650000	0.86243	TCA		PASS	0.567	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		9	62	9	62	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49654775	49654775	+	Splice_Site	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:49654775G>C	ENST00000252825.4	-	5	2248	c.2062C>G	c.(2062-2064)Cag>Gag	p.Q688E	HRC_ENST00000595625.1_Splice_Site_p.Q665E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	688					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.Q688E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CACACTTACTGATAAAGGGAC	0.493																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2062-2064)CAG>GAG		histidine rich calcium binding protein							70.0	70.0	70.0					19																	49654775		2203	4300	6503	SO:0001630	splice_region_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49654775G>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.2063+1C>G	19.37:g.49654775G>C							p.Q688E	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	5	2249	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	688					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.2062C>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003834	0.35320	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.46819	0.86	4.27	4.27	0.50696	.	.	.	.	.	T	0.43010	0.1228	L	0.59436	1.845	0.41967	D	0.990739	P	0.47762	0.9	B	0.38500	0.275	T	0.53718	-0.8399	9	0.72032	D	0.01	.	12.5681	0.56320	0.0:0.0:1.0:0.0	.	688	P23327	SRCH_HUMAN	E	688;378	ENSP00000252825:Q688E	ENSP00000252825:Q688E	Q	-	1	0	HRC	54346587	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.224000	0.58593	2.108000	0.64289	0.462000	0.41574	CAG		PASS	0.493	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	Missense_Mutation	8	34	8	34	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51132558	51132558	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:51132558C>T	ENST00000338916.4	-	4	1907	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D	SYT3_ENST00000593901.1_Missense_Mutation_p.G425D|SYT3_ENST00000544769.1_Missense_Mutation_p.G425D|SYT3_ENST00000600079.1_Missense_Mutation_p.G425D	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	425					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G425D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GACCGAGCCGCCCTCCACGAT	0.677																																						uc002pst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1273-1275)GGC>GAC		synaptotagmin III							15.0	17.0	16.0					19																	51132558		2202	4296	6498	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51132558C>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1274G>A	19.37:g.51132558C>T	ENSP00000340914:p.Gly425Asp					SYT3_uc002psv.2_Missense_Mutation_p.G425D|SYT3_uc010ycd.1_Missense_Mutation_p.G425D	p.G425D	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	4	1908	-		all_neural(266;0.131)	425			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1274G>A	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574813	0.65878	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60299	0.2;0.2	4.4	4.4	0.53042	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000008	T	0.55924	0.1951	L	0.43923	1.385	0.45806	D	0.998687	D	0.64830	0.994	P	0.51866	0.682	T	0.59273	-0.7485	10	0.66056	D	0.02	.	8.0776	0.30726	0.1767:0.6517:0.1716:0.0	.	425	Q9BQG1	SYT3_HUMAN	D	425	ENSP00000340914:G425D;ENSP00000438883:G425D	ENSP00000340914:G425D	G	-	2	0	SYT3	55824370	0.788000	0.28762	0.979000	0.43373	0.984000	0.73092	0.659000	0.24994	2.166000	0.68216	0.655000	0.94253	GGC		PASS	0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		5	3	5	3	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286681	57286681	+	Missense_Mutation	SNP	G	G	A	rs138884282	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr19:57286681G>A	ENST00000391708.3	-	12	1501	c.959C>T	c.(958-960)tCa>tTa	p.S320L	ZIM2_ENST00000601070.1_Missense_Mutation_p.S320L|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S320L|ZIM2_ENST00000593711.1_Missense_Mutation_p.S320L|ZIM2_ENST00000599935.1_Missense_Mutation_p.S320L|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S320L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTGGGATGCTGACTGGGGACT	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		20648	0.002		0.0	False		,,,				2504	0.0					uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(958-960)TCA>TTA		zinc finger, imprinted 2							139.0	128.0	132.0					19																	57286681		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286681G>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.959C>T	19.37:g.57286681G>A	ENSP00000375589:p.Ser320Leu					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.S116L|ZIM2_uc010ygr.1_Missense_Mutation_p.S116L|ZIM2_uc002qnq.2_Missense_Mutation_p.S320L|ZIM2_uc010etp.2_Missense_Mutation_p.S320L|ZIM2_uc010ygs.1_Missense_Mutation_p.S320L	p.S320L	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1341	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	320					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.959C>T	CCDS33123.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.732	1.162561	0.21538	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04758	3.56;3.56	3.89	0.56	0.17279	.	.	.	.	.	T	0.01870	0.0059	N	0.01874	-0.695	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.39418	-0.9615	8	0.72032	D	0.01	.	3.5196	0.07737	0.2126:0.0:0.5897:0.1977	.	320	Q9NZV7	ZIM2_HUMAN	L	320	ENSP00000375589:S320L;ENSP00000221722:S320L	ENSP00000221722:S320L	S	-	2	0	ZIM2	61978493	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-1.193000	0.03049	0.225000	0.20959	0.655000	0.94253	TCA		PASS	0.453	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			9	48	9	48	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7915149	7915149	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr20:7915149C>T	ENST00000378789.3	-	2	322	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	91	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.E91K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCAAGCTCGCCGTCCACA	0.522																																						uc002wmw.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)	3						c.(271-273)GAG>AAG		hydroxyacid oxidase 1							100.0	91.0	94.0					20																	7915149		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915149C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.271G>A	20.37:g.7915149C>T	ENSP00000368066:p.Glu91Lys					HAO1_uc010gbu.2_Missense_Mutation_p.E91K	p.E91K	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			2	295	-			91			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.271G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089263	0.76756	.	.	ENSG00000101323	ENST00000378789	T	0.40225	1.04	5.96	5.96	0.96718	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87810	0.2631	10	0.87932	D	0	-14.7431	19.1831	0.93630	0.0:1.0:0.0:0.0	.	91;91	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	91	ENSP00000368066:E91K	ENSP00000368066:E91K	E	-	1	0	HAO1	7863149	1.000000	0.71417	0.976000	0.42696	0.079000	0.17450	6.586000	0.74067	2.827000	0.97445	0.655000	0.94253	GAG		PASS	0.522	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			23	110	23	110	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30745599	30745599	+	Silent	SNP	G	G	A	rs544720237		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr20:30745599G>A	ENST00000398022.2	+	14	1567	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	TM9SF4_ENST00000217315.5_Silent_p.V427V	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	444						integral component of membrane (GO:0016021)		p.V427V(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCTACAGGTGCCCTTTCCCA	0.627																																						uc002wxj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1330-1332)GTG>GTA		transmembrane 9 superfamily protein member 4							164.0	153.0	156.0					20																	30745599		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30745599G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1332G>A	20.37:g.30745599G>A						TM9SF4_uc010zts.1_Silent_p.V351V|TM9SF4_uc002wxk.2_Silent_p.V427V|TM9SF4_uc010gdz.2_Silent_p.V323V	p.V444V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1567	+			444					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.1332G>A	CCDS13196.2																																																																																				PASS	0.627	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		54	56	54	56	---	---	---	---
AAR2	25980	broad.mit.edu	37	20	34828318	34828318	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr20:34828318G>C	ENST00000373932.3	+	2	874	c.528G>C	c.(526-528)caG>caC	p.Q176H	AAR2_ENST00000397286.3_Missense_Mutation_p.Q176H|AAR2_ENST00000320849.4_Missense_Mutation_p.Q176H	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	176								p.Q176H(1)									GCGTGGGGCAGAATCTACCCC	0.582																																						uc002xfc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CAG>CAC		hypothetical protein LOC25980							89.0	89.0	89.0					20																	34828318		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34828318G>C		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.528G>C	20.37:g.34828318G>C	ENSP00000363043:p.Gln176His					C20orf4_uc002xfd.1_Missense_Mutation_p.Q176H|C20orf4_uc002xfe.1_Missense_Mutation_p.Q176H	p.Q176H	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	621	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	176					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.528G>C	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746830	0.30955	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.44482	0.92;0.92;0.92	5.02	4.07	0.47477	.	0.049847	0.85682	D	0.000000	T	0.31827	0.0809	L	0.28192	0.835	0.48135	D	0.999598	B;B	0.27853	0.005;0.191	B;B	0.29176	0.01;0.099	T	0.14476	-1.0471	10	0.45353	T	0.12	.	13.4412	0.61114	0.0:0.1569:0.8431:0.0	.	176;176	A2A2Q9;Q9Y312	.;CT004_HUMAN	H	176	ENSP00000380455:Q176H;ENSP00000313674:Q176H;ENSP00000363043:Q176H	ENSP00000313674:Q176H	Q	+	3	2	C20orf4	34291732	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	1.966000	0.40481	1.478000	0.48253	-0.156000	0.13503	CAG		PASS	0.582	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		62	61	62	61	---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44815288	44815288	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr20:44815288G>C	ENST00000372262.3	-	9	2002	c.1602C>G	c.(1600-1602)ttC>ttG	p.F534L	CDH22_ENST00000537909.1_Missense_Mutation_p.F534L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F534L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCGGAAATAGAAGCGGTGCC	0.587																																						uc002xrm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1600-1602)TTC>TTG		cadherin 22 precursor							78.0	74.0	76.0					20																	44815288		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815288G>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1602C>G	20.37:g.44815288G>C	ENSP00000361336:p.Phe534Leu					CDH22_uc010ghk.1_Missense_Mutation_p.F534L	p.F534L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			9	2003	-		Myeloproliferative disorder(115;0.0122)	534			Cadherin 5.|Extracellular (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1602C>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279114	0.59758	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.56776	0.44;0.44	4.38	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.055877	0.64402	N	0.000001	T	0.54549	0.1865	M	0.83692	2.655	0.43435	D	0.995609	B	0.06786	0.001	B	0.12156	0.007	T	0.62077	-0.6930	10	0.72032	D	0.01	.	10.7771	0.46356	0.0944:0.0:0.9056:0.0	.	534	Q9UJ99	CAD22_HUMAN	L	534	ENSP00000361336:F534L;ENSP00000437790:F534L	ENSP00000361336:F534L	F	-	3	2	CDH22	44248695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.428000	0.44749	1.998000	0.58463	0.442000	0.29010	TTC		PASS	0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		7	46	7	46	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645430	52645430	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr20:52645430G>T	ENST00000395961.3	-	4	390	c.224C>A	c.(223-225)gCc>gAc	p.A75D	BCAS1_ENST00000371435.2_Missense_Mutation_p.A75D|BCAS1_ENST00000411563.1_5'UTR|BCAS1_ENST00000371440.3_Missense_Mutation_p.A75D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	75						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A75D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTTCCGTTGGCATCCGCAAC	0.493																																						uc002xws.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(223-225)GCC>GAC		breast carcinoma amplified sequence 1							79.0	69.0	73.0					20																	52645430		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645430G>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.224C>A	20.37:g.52645430G>T	ENSP00000379290:p.Ala75Asp					BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A75D|BCAS1_uc010gil.1_Missense_Mutation_p.A75D|BCAS1_uc010zzc.1_5'UTR	p.A75D	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	562	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		75					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.224C>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803032	0.70682	.	.	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435	T;T;T	0.20069	2.11;2.1;2.1	4.94	4.94	0.65067	.	0.143119	0.46145	D	0.000309	T	0.44286	0.1286	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.983;0.999;0.999	T	0.38735	-0.9647	10	0.87932	D	0	-10.6515	15.2404	0.73465	0.0:0.0:1.0:0.0	.	75;75;75	G3XAF7;A0AVG7;O75363	.;.;BCAS1_HUMAN	D	75	ENSP00000360495:A75D;ENSP00000379290:A75D;ENSP00000360490:A75D	ENSP00000360490:A75D	A	-	2	0	BCAS1	52078837	0.633000	0.27181	0.919000	0.36401	0.678000	0.39670	2.145000	0.42207	2.427000	0.82271	0.462000	0.41574	GCC		PASS	0.493	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		29	19	29	19	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22910240	22910240	+	Missense_Mutation	SNP	G	G	T	rs376541267		TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr21:22910240G>T	ENST00000400546.1	+	18	2725	c.2476G>T	c.(2476-2478)Gac>Tac	p.D826Y	NCAM2_ENST00000284894.7_Missense_Mutation_p.D684Y	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	826					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D826Y(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTTTCTAACGACATCATTCA	0.343																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2476-2478)GAC>TAC		neural cell adhesion molecule 2 precursor							57.0	57.0	57.0					21																	22910240		1830	4077	5907	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22910240G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2476G>T	21.37:g.22910240G>T	ENSP00000383392:p.Asp826Tyr					NCAM2_uc011acb.1_Missense_Mutation_p.D684Y	p.D826Y	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	18	2725	+		Lung NSC(9;0.195)	826			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2476G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546236	0.65198	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.63096	-0.02;0.06	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75249	-0.3384	10	0.87932	D	0	-27.5604	18.7377	0.91761	0.0:0.0:1.0:0.0	.	684;826	B7Z5K2;O15394	.;NCAM2_HUMAN	Y	826;684	ENSP00000383392:D826Y;ENSP00000284894:D684Y	ENSP00000284894:D684Y	D	+	1	0	NCAM2	21832111	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.112000	0.64634	2.774000	0.95407	0.585000	0.79938	GAC		PASS	0.343	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		30	21	30	21	---	---	---	---
USP16	10600	broad.mit.edu	37	21	30402983	30402983	+	Silent	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr21:30402983G>T	ENST00000334352.4	+	4	360	c.129G>T	c.(127-129)gtG>gtT	p.V43V	USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Silent_p.V43V|USP16_ENST00000399976.2_Silent_p.V43V	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.V43V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TAGTGAATGTGGAATGGAATA	0.333																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(127-129)GTG>GTT		ubiquitin specific protease 16 isoform a							92.0	90.0	91.0					21																	30402983		2203	4300	6503	SO:0001819	synonymous_variant	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30402983G>T	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.129G>T	21.37:g.30402983G>T						USP16_uc002ymx.2_Silent_p.V43V|USP16_uc002ymw.2_Silent_p.V43V|USP16_uc011acm.1_Silent_p.V29V|USP16_uc011acn.1_Intron	p.V43V	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			3	331	+			43						Silent	SNP	ENST00000334352.4	37	c.129G>T	CCDS13583.1																																																																																				PASS	0.333	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			6	53	6	53	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47985788	47985788	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr21:47985788G>A	ENST00000417564.2	+	36	4348	c.4327G>A	c.(4327-4329)Gat>Aat	p.D1443N	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000318711.7_Missense_Mutation_p.D1444N|DIP2A_ENST00000400274.1_Missense_Mutation_p.D1439N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1443					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.D1443N(1)|p.D1444N(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)		AGAGCTCACTGATGCCAGTGG	0.602																																						uc002zjo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4327-4329)GAT>AAT		disco-interacting protein 2A isoform a							100.0	106.0	104.0					21																	47985788		2149	4276	6425	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47985788G>A	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.4327G>A	21.37:g.47985788G>A	ENSP00000392066:p.Asp1443Asn					DIP2A_uc011afz.1_Missense_Mutation_p.D1439N|DIP2A_uc002zjs.2_Missense_Mutation_p.D123N|DIP2A_uc002zjt.2_RNA	p.D1443N	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)	36	4510	+	Breast(49;0.0933)		1443					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.4327G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323882	0.95708	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.24908	1.84;1.83;1.83	5.48	5.48	0.80851	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	L	0.58428	1.81	0.80722	D	1	P;P	0.41569	0.712;0.755	P;P	0.56916	0.586;0.809	T	0.03587	-1.1022	10	0.17832	T	0.49	-21.076	18.6997	0.91615	0.0:0.0:1.0:0.0	.	1444;1443	E9PER1;Q14689	.;DIP2A_HUMAN	N	1439;1444;1443	ENSP00000383133:D1439N;ENSP00000323633:D1444N;ENSP00000392066:D1443N	ENSP00000323633:D1444N	D	+	1	0	DIP2A	46810216	1.000000	0.71417	0.502000	0.27614	0.904000	0.53231	9.513000	0.98010	2.731000	0.93534	0.655000	0.94253	GAT		PASS	0.602	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		35	27	35	27	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19865933	19865933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr22:19865933C>A	ENST00000400521.1	-	15	1309	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	TXNRD2_ENST00000400519.1_Nonsense_Mutation_p.E434*|TXNRD2_ENST00000535882.1_Nonsense_Mutation_p.E434*|TXNRD2_ENST00000542719.1_Nonsense_Mutation_p.E405*|TXNRD2_ENST00000400518.1_Nonsense_Mutation_p.E405*	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	435					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E435*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACCGTGAACTCCAGTGGTTTA	0.567																																						uc011ahc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1303-1305)GAG>TAG		thioredoxin reductase 2 precursor							163.0	176.0	172.0					22																	19865933		2111	4240	6351	SO:0001587	stop_gained	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19865933C>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1303G>T	22.37:g.19865933C>A	ENSP00000383365:p.Glu435*					TXNRD2_uc002zql.1_Nonsense_Mutation_p.E189*|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Nonsense_Mutation_p.E434*|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Nonsense_Mutation_p.E85*	p.E435*	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			15	1336	-	Colorectal(54;0.0993)		435					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Nonsense_Mutation	SNP	ENST00000400521.1	37	c.1303G>T	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008645	0.93346	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.6058	17.9142	0.88944	0.0:1.0:0.0:0.0	.	.	.	.	X	405;435;435;412;339;434;434;405	.	ENSP00000383362:E405X	E	-	1	0	TXNRD2	18245933	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	6.778000	0.75043	2.618000	0.88619	0.462000	0.41574	GAG		PASS	0.567	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		21	146	21	146	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21119167	21119167	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr22:21119167G>C	ENST00000572273.1	-	22	2702	c.2472C>G	c.(2470-2472)atC>atG	p.I824M	PI4KA_ENST00000255882.6_Missense_Mutation_p.I882M|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	824					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.I824M(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCAGCTTGTTGATGAGTGCGG	0.582																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(2470-2472)ATC>ATG		phosphatidylinositol 4-kinase type 3 alpha							92.0	68.0	76.0					22																	21119167		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21119167G>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2472C>G	22.37:g.21119167G>C	ENSP00000458238:p.Ile824Met						p.I824M	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		22	2703	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	824					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2472C>G		.	.	.	.	.	.	.	.	.	.	G	20.2	3.951634	0.73787	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.62723	1.935	0.80722	D	1	P	0.49862	0.929	P	0.52957	0.714	T	0.72130	-0.4383	9	0.45353	T	0.12	-29.4127	19.2631	0.93975	0.0:0.0:1.0:0.0	.	824	P42356	PI4KA_HUMAN	M	824	.	ENSP00000255882:I824M	I	-	3	3	PI4KA	19449167	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.654000	0.54453	2.540000	0.85666	0.650000	0.86243	ATC		PASS	0.582	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		5	36	5	36	---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29533453	29533453	+	Missense_Mutation	SNP	C	C	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr22:29533453C>T	ENST00000407188.1	+	6	749	c.749C>T	c.(748-750)tCc>tTc	p.S250F	KREMEN1_ENST00000400338.2_Missense_Mutation_p.S252F|KREMEN1_ENST00000327813.5_Missense_Mutation_p.S252F|KREMEN1_ENST00000400335.4_Missense_Mutation_p.S252F			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	250	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S252F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCGGGGGCCTCCCACATCCAC	0.597																																						uc011akm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(754-756)TCC>TTC		kringle-containing transmembrane protein 1							68.0	70.0	70.0					22																	29533453		1934	4114	6048	SO:0001583	missense	83999				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29533453C>T	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.749C>T	22.37:g.29533453C>T	ENSP00000385431:p.Ser250Phe					KREMEN1_uc003ael.2_Missense_Mutation_p.S252F|KREMEN1_uc011akn.1_Missense_Mutation_p.S135F	p.S252F	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN			6	768	+			250			Extracellular (Potential).|CUB.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.755C>T	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832170	0.71258	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.99	4.99	0.66335	CUB (5);	0.202088	0.34386	N	0.004018	T	0.40522	0.1120	L	0.43646	1.37	0.58432	D	0.999994	D;D;B	0.57571	0.97;0.98;0.001	P;P;B	0.59424	0.857;0.777;0.003	T	0.06075	-1.0847	10	0.10111	T	0.7	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	250;252;252	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	F	252;252;252;250	ENSP00000383189:S252F;ENSP00000383192:S252F;ENSP00000331242:S252F;ENSP00000385431:S250F	ENSP00000331242:S252F	S	+	2	0	KREMEN1	27863453	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	3.021000	0.49651	2.510000	0.84645	0.591000	0.81541	TCC		PASS	0.597	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			11	62	11	62	---	---	---	---
MIEF1	54471	broad.mit.edu	37	22	39908032	39908032	+	Splice_Site	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr22:39908032G>A	ENST00000325301.2	+	4	746		c.e4+1		MIEF1_ENST00000404569.1_Splice_Site|MIEF1_ENST00000402881.1_Splice_Site	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1						mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.?(1)									TTCGACACAGGTGAGAAGGGC	0.597																																						uc003axx.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e4+1		hypothetical protein LOC54471							58.0	65.0	63.0					22																	39908032		2203	4300	6503	SO:0001630	splice_region_variant	54471					integral to membrane|mitochondrion		g.chr22:39908032G>A	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.322+1G>A	22.37:g.39908032G>A						SMCR7L_uc003axw.2_Splice_Site_p.D108_splice|SMCR7L_uc010gxz.1_Splice_Site|SMCR7L_uc003axy.2_Splice_Site	p.D108_splice	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN			4	820	+	Melanoma(58;0.04)							Q7L890|Q9BUI3	Splice_Site	SNP	ENST00000325301.2	37	c.322_splice	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625987	0.46840	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMCR7L	38237978	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.465000	0.97660	2.778000	0.95560	0.650000	0.86243	.		PASS	0.597	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008	Intron	9	39	9	39	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42099442	42099442	+	Silent	SNP	C	C	T	rs147144334	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr22:42099442C>T	ENST00000401548.3	+	2	322	c.282C>T	c.(280-282)ttC>ttT	p.F94F	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.F94F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCATCCACTTCATAAGTGTGC	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20358	0.0		0.0	False		,,,				2504	0.0					uc003baz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(280-282)TTC>TTT		meiosis defective 1							74.0	68.0	70.0					22																	42099442		1912	4124	6036	SO:0001819	synonymous_variant	150365						binding	g.chr22:42099442C>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.282C>T	22.37:g.42099442C>T						MEI1_uc003bay.3_Silent_p.F94F|MEI1_uc011apd.1_RNA	p.F94F	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			2	307	+			94						Silent	SNP	ENST00000401548.3	37	c.282C>T	CCDS46718.1																																																																																				PASS	0.428	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		6	15	6	15	---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63568544	63568544	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chrX:63568544G>T	ENST00000374852.3	-	6	795	c.728C>A	c.(727-729)cCa>cAa	p.P243Q	MTMR8_ENST00000453546.1_Missense_Mutation_p.P243Q	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	243	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.P243Q(2)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGATACCTTTGGTCTTGTGTC	0.403																																						uc004dvs.2																			3	Substitution - Missense(2)|Whole gene deletion(1)		lung(2)|ovary(1)	ovary(2)|breast(2)	4						c.(727-729)CCA>CAA		myotubularin related protein 8							135.0	110.0	119.0					X																	63568544		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63568544G>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.728C>A	X.37:g.63568544G>T	ENSP00000363985:p.Pro243Gln					MTMR8_uc011mou.1_Missense_Mutation_p.P243Q|MTMR8_uc004dvt.1_Missense_Mutation_p.P243Q	p.P243Q	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			6	796	-			243			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.728C>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170393	0.38315	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.91180	-2.8;-2.8	2.68	2.68	0.31781	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.47852	U	0.000203	D	0.95765	0.8622	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.964	D;D	0.85130	0.997;0.942	D	0.96017	0.9006	10	0.87932	D	0	.	11.7614	0.51905	0.0:0.0:1.0:0.0	.	243;243	B4DQL0;Q96EF0	.;MTMR8_HUMAN	Q	243	ENSP00000394003:P243Q;ENSP00000363985:P243Q	ENSP00000363985:P243Q	P	-	2	0	MTMR8	63485269	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.108000	0.89559	1.333000	0.45449	0.506000	0.49869	CCA		PASS	0.403	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		4	24	4	24	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70678145	70678145	+	Missense_Mutation	SNP	G	G	T			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chrX:70678145G>T	ENST00000373790.4	+	35	5041	c.4990G>T	c.(4990-4992)Gta>Tta	p.V1664L	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.V1664L|TAF1_ENST00000276072.3_Missense_Mutation_p.V1685L|TAF1_ENST00000423759.1_Missense_Mutation_p.V1687L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1664	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.V1685L(1)|p.V1664L(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGATGCCTCTGTATTTCAAGA	0.408																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(4990-4992)GTA>TTA		TBP-associated factor 1 isoform 2							234.0	196.0	209.0					X																	70678145		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70678145G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4990G>T	X.37:g.70678145G>T	ENSP00000362895:p.Val1664Leu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V1685L|TAF1_uc004dzv.3_Missense_Mutation_p.V838L|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.V89L|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_5'Flank	p.V1664L	NM_138923	NP_620278	P21675	TAF1_HUMAN			35	5041	+	Renal(35;0.156)	all_lung(315;0.000321)	1664			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4990G>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	G	9.879	1.201088	0.22121	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072	T;T;T;T	0.08634	3.07;3.12;3.11;3.07	5.38	5.38	0.77491	.	0.333100	0.36374	N	0.002622	T	0.04272	0.0118	N	0.08118	0	0.30076	N	0.809574	B;B;B;B	0.21905	0.062;0.015;0.019;0.033	B;B;B;B	0.19148	0.024;0.009;0.006;0.014	T	0.25502	-1.0130	10	0.08837	T	0.75	.	12.6963	0.57005	0.0:0.0:0.7171:0.2829	.	320;1664;1664;1685	A5CVC9;P21675-4;P21675;P21675-2	.;.;TAF1_HUMAN;.	L	1664;1664;1687;372;1685	ENSP00000362895:V1664L;ENSP00000389000:V1664L;ENSP00000406549:V1687L;ENSP00000276072:V1685L	ENSP00000276072:V1685L	V	+	1	0	TAF1	70594870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.930000	0.48924	2.482000	0.83794	0.600000	0.82982	GTA		PASS	0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		48	22	48	22	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99663159	99663159	+	Missense_Mutation	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chrX:99663159G>A	ENST00000373034.4	-	1	2112	c.437C>T	c.(436-438)aCg>aTg	p.T146M	PCDH19_ENST00000255531.7_Missense_Mutation_p.T146M|PCDH19_ENST00000420881.2_Missense_Mutation_p.T146M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		T -> R (in EIEE9). {ECO:0000269|PubMed:21053371}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T146M(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGGGATGCGCGTGCCAGGGCT	0.597																																						uc010nmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(436-438)ACG>ATG		protocadherin 19 isoform b							91.0	88.0	89.0					X																	99663159		2127	4222	6349	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663159G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.437C>T	X.37:g.99663159G>A	ENSP00000362125:p.Thr146Met					PCDH19_uc004efw.3_Missense_Mutation_p.T146M|PCDH19_uc004efx.3_Missense_Mutation_p.T146M	p.T146M	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	2113	-			146		T -> R (in EIEE9).	Cadherin 2.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.437C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787677	0.70337	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.58358	0.34;0.34;0.34	5.7	5.7	0.88788	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.83312	2.635	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	0.78112	-0.2331	10	0.52906	T	0.07	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	146;146;146	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	146	ENSP00000400327:T146M;ENSP00000362125:T146M;ENSP00000255531:T146M	ENSP00000255531:T146M	T	-	2	0	PCDH19	99549815	1.000000	0.71417	0.541000	0.28102	0.938000	0.57974	9.807000	0.99171	2.385000	0.81259	0.544000	0.68410	ACG		PASS	0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		14	7	14	7	---	---	---	---
XIAP	331	broad.mit.edu	37	X	123020331	123020331	+	Silent	SNP	G	G	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chrX:123020331G>A	ENST00000371199.3	+	2	1118	c.819G>A	c.(817-819)ggG>ggA	p.G273G	XIAP_ENST00000434753.3_Silent_p.G273G|XIAP_ENST00000355640.3_Silent_p.G273G|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	273					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G273G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TTACTTTTGGGACATGGATAT	0.363									X-linked Lymphoproliferative syndrome																													uc010nqu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(817-819)GGG>GGA		baculoviral IAP repeat-containing protein 4							74.0	75.0	75.0					X																	123020331		2203	4300	6503	SO:0001819	synonymous_variant	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123020331G>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.819G>A	X.37:g.123020331G>A						XIAP_uc004etx.2_Silent_p.G273G|XIAP_uc010nqv.2_Intron	p.G273G	NM_001167	NP_001158	P98170	XIAP_HUMAN			2	945	+			273			BIR 3.		D3DTF2|Q9NQ14	Silent	SNP	ENST00000371199.3	37	c.819G>A	CCDS14606.1																																																																																				PASS	0.363	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		27	13	27	13	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4925417	4925417	+	Missense_Mutation	SNP	G	G	C			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chrY:4925417G>C	ENST00000333703.4	+	4	1033	c.520G>C	c.(520-522)Gct>Cct	p.A174P	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.A185P|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.A185P	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A185P(2)|p.A174P(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAGAACTCGGCTATAAACTC	0.368																																						uc004fqo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(553-555)GCT>CCT		protocadherin 11 Y-linked isoform c							15.0	15.0	15.0					Y																	4925417		619	1905	2524	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925417G>C	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.520G>C	Y.37:g.4925417G>C	ENSP00000330552:p.Ala174Pro					PCDH11Y_uc010nwg.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fql.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fqm.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fqn.1_Missense_Mutation_p.A185P	p.A185P	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	1287	+			185			Extracellular (Potential).|Cadherin 2.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.553G>C	CCDS14776.1																																																																																				PASS	0.368	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		11	9	11	9	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26697491	26697491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr2:26697491delC	ENST00000272371.2	-	26	3304	c.3178delG	c.(3178-3180)gcafs	p.A1060fs	OTOF_ENST00000403946.3_Frame_Shift_Del_p.A1060fs|OTOF_ENST00000402415.3_Frame_Shift_Del_p.A370fs|OTOF_ENST00000339598.3_Frame_Shift_Del_p.A313fs|OTOF_ENST00000338581.6_Frame_Shift_Del_p.A313fs	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1060					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTCGTCTGCCATCTTCACC	0.612																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(3178-3180)GCAfs		otoferlin isoform a							96.0	83.0	88.0					2																	26697491		2203	4299	6502	SO:0001589	frameshift_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26697491delC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3178delG	2.37:g.26697491delC	ENSP00000272371:p.Ala1060fs					OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Frame_Shift_Del_p.A313fs|OTOF_uc002rhi.2_Frame_Shift_Del_p.A370fs|OTOF_uc002rhj.2_Frame_Shift_Del_p.A313fs	p.A1060fs	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			26	3305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1060			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Frame_Shift_Del	DEL	ENST00000272371.2	37	c.3178delG	CCDS1725.1																																																																																					0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			10	23	10	23	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140783285	140783285	+	Frame_Shift_Del	DEL	C	C	-	rs77227638	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr5:140783285delC	ENST00000573521.1	+	1	766	c.766delC	c.(766-768)cccfs	p.P257fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAACGTGCCCCCAGGCAC	0.473																																						uc003lkh.1																			0					0						c.(766-768)CCCfs		protocadherin gamma subfamily A, 9 isoform 1							48.0	53.0	51.0					5																	140783285		1933	4127	6060	SO:0001589	frameshift_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783285delC	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.766delC	5.37:g.140783285delC	ENSP00000460274:p.Pro257fs					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Frame_Shift_Del_p.P256fs	p.P256fs	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	766	+			256			Cadherin 3.|Extracellular (Potential).		A2RU65|Q9Y5C9	Frame_Shift_Del	DEL	ENST00000573521.1	37	c.766delC	CCDS58981.1																																																																																					0.473	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		30	22	30	22	---	---	---	---
GGCT	79017	broad.mit.edu	37	7	30544197	30544198	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr7:30544197_30544198delCA	ENST00000275428.4	-	1	262_263	c.128_129delTG	c.(127-129)gtgfs	p.V43fs	GGCT_ENST00000409436.1_Frame_Shift_Del_p.V43fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409144.1_Frame_Shift_Del_p.V43fs|GGCT_ENST00000005374.6_Frame_Shift_Del_p.V43fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.V43fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	43					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GCAGGCGGGCCACACAGAAGAA	0.668																																						uc003tba.2																			0					0						c.(127-129)GTGfs		gamma-glutamyl cyclotransferase																																				SO:0001589	frameshift_variant	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30544197_30544198delCA	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.128_129delTG	7.37:g.30544201_30544202delCA	ENSP00000275428:p.Val43fs					GGCT_uc003tbb.2_Frame_Shift_Del_p.V43fs|GGCT_uc003tbc.2_RNA	p.V43fs	NM_024051	NP_076956	O75223	GGCT_HUMAN			1	255_256	-			43					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	c.128_129delTG	CCDS5428.1																																																																																					0.668	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		26	14	26	14	---	---	---	---
KANSL2	54934	broad.mit.edu	37	12	49048747	49048748	+	Frame_Shift_Ins	INS	-	-	A			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr12:49048747_49048748insA	ENST00000420613.2	-	9	1370_1371	c.1323_1324insT	c.(1321-1326)attgctfs	p.A442fs	SNORA34_ENST00000408564.2_RNA|KANSL2_ENST00000548701.1_5'UTR|SNORA2A_ENST00000383885.1_RNA|KANSL2_ENST00000553086.1_Frame_Shift_Ins_p.A408fs|KANSL2_ENST00000550347.1_Frame_Shift_Ins_p.A625fs	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	442					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											GGGTCTTCAGCAATTTCTTTGA	0.465																																						uc001rrx.2																			0				ovary(2)	2						c.(1321-1326)ATTGCTfs		hypothetical protein LOC54934																																				SO:0001589	frameshift_variant	54934							g.chr12:49048747_49048748insA	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1324dupT	12.37:g.49048749_49048749dupA	ENSP00000415436:p.Ala442fs					C12orf41_uc001rrw.2_Frame_Shift_Ins_p.I212fs|C12orf41_uc001rrz.2_Frame_Shift_Ins_p.I624fs|C12orf41_uc001rry.2_RNA|C12orf41_uc001rru.2_Frame_Shift_Ins_p.I72fs|C12orf41_uc001rrv.2_Frame_Shift_Ins_p.I125fs|SNORA34_uc001rsa.1_5'Flank|MIR1291_hsa-mir-1291|MI0006353_5'Flank	p.I441fs	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			9	1398_1399	-			441_442					Q8N3B5|Q96CV0|Q9NX51	Frame_Shift_Ins	INS	ENST00000420613.2	37	c.1323_1324insT	CCDS44869.1																																																																																					0.465	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		10	6	10	6	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	820927	820927	+	Frame_Shift_Del	DEL	G	G	-	rs561271930	byFrequency	TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:820927delG	ENST00000442466.1	-	12	1404	c.1405delC	c.(1405-1407)cagfs	p.Q469fs	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Frame_Shift_Del_p.Q820fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like	469					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TTCCGGCTCTGGGGGCAGGAG	0.692																																						uc002cjz.1																			0				breast(3)|ovary(1)	4						c.(2458-2460)CAGfs		mesothelin-like							14.0	20.0	18.0					16																	820927		1947	4134	6081	SO:0001589	frameshift_variant	401827				cell adhesion	integral to membrane		g.chr16:820927delG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1405delC	16.37:g.820927delG	ENSP00000415767:p.Gln469fs						p.Q820fs	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			13	2458	-			469			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000442466.1	37	c.2458delC																																																																																						0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		4	2	4	2	---	---	---	---
INO80E	283899	broad.mit.edu	37	16	30007665	30007665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr16:30007665delA	ENST00000563197.1	+	1	1051	c.34delA	c.(34-36)aaafs	p.K14fs	HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	14					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AGTGGACTACAAAAAAAAATA	0.632																																						uc002dvg.1																			0				skin(1)	1						c.(34-36)AAAfs		INO80 complex subunit E				60,46,4144		0,1,59,0,45,2020	28.0	31.0	30.0			5.2	1.0	16	dbSNP_126	30	90,92,8032		0,0,90,2,88,3927	no	codingComplex	INO80E	NM_173618.1		0,1,149,2,133,5947	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2157,2.4941,2.3107			30007665	150,138,12176	2193	4283	6476	SO:0001589	frameshift_variant	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007665delA	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.34delA	16.37:g.30007665delA	ENSP00000457016:p.Lys14fs					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Frame_Shift_Del_p.K12fs|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Frame_Shift_Del_p.K12fs|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank	p.K12fs	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN			1	135	+			12			Potential.		Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	c.34delA	CCDS10665.1																																																																																					0.632	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		4	2	4	2	---	---	---	---
DGCR6	8214	broad.mit.edu	37	22	18897772	18897773	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-43-3920-01A-01D-0983-08	TCGA-43-3920-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a97333f4-d289-493f-8dff-88e52719fa86	5e11471c-1e1b-45dc-8b95-1d20c3f087b7	g.chr22:18897772_18897773insGC	ENST00000331444.6	+	3	511_512	c.359_360insGC	c.(358-363)cagcgafs	p.QR120fs	DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	120					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GCGGCTCAGCAGCGAGAACTAG	0.673																																						uc002zoh.3																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(358-360)CAGfs		DiGeorge syndrome critical region protein 6																																				SO:0001589	frameshift_variant	8214				cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix		g.chr22:18897772_18897773insGC	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.360_361dupGC	22.37:g.18897773_18897774dupGC	ENSP00000331681:p.Gln120fs					DGCR6_uc002zog.2_RNA|DGCR6_uc002zoi.3_RNA	p.Q120fs	NM_005675	NP_005666	Q14129	DGCR6_HUMAN			3	511_512	+			120			Potential.		B2RCH5|D3DX15|G5E9J8|Q9BY28	Frame_Shift_Ins	INS	ENST00000331444.6	37	c.359_360insGC	CCDS13753.1																																																																																					0.673	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		3	5	3	5	---	---	---	---
