#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
GNB1	2782	broad.mit.edu	37	1	1756837	1756837	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:1756837C>A	ENST00000378609.4	-	3	387	c.56G>T	c.(55-57)cGa>cTa	p.R19L	GNB1_ENST00000472614.2_5'UTR	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	19					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.R19L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ACTACATACTCGAATCTGGTT	0.403																																						uc001aif.2																			2	Substitution - Missense(2)		lung(2)		0						c.(55-57)CGA>CTA		guanine nucleotide-binding protein, beta-1							357.0	346.0	350.0					1																	1756837		2203	4300	6503	SO:0001630	splice_region_variant	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1756837C>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.57+1G>T	1.37:g.1756837C>A						GNB1_uc009vky.2_5'UTR	p.R19L	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	3	388	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	19					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.56G>T	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514306	0.44763	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.01287	5.05;5.05;5.1;5.05	5.29	5.29	0.74685	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04588	0.0125	M	0.86805	2.84	0.80722	D	1	B	0.27013	0.166	B	0.28553	0.091	T	0.08186	-1.0734	10	0.56958	D	0.05	-13.8169	16.7697	0.85534	0.0:1.0:0.0:0.0	.	19	P62873	GBB1_HUMAN	L	19	ENSP00000367872:R19L;ENSP00000392765:R19L;ENSP00000399741:R19L;ENSP00000416651:R19L	ENSP00000367869:R19L	R	-	2	0	GNB1	1746697	1.000000	0.71417	0.942000	0.38095	0.576000	0.36127	6.812000	0.75226	2.629000	0.89072	0.650000	0.86243	CGA		PASS	0.403	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	Missense_Mutation	12	250	12	250	---	---	---	---
PER3	8863	broad.mit.edu	37	1	7887545	7887545	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:7887545G>T	ENST00000361923.2	+	17	2707	c.2532G>T	c.(2530-2532)ttG>ttT	p.L844F	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.L852F	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	844	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L844F(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTACTTGGATACTTTTA	0.567																																						uc001aoo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2530-2532)TTG>TTT		period 3							174.0	170.0	171.0					1																	7887545		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887545G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2532G>T	1.37:g.7887545G>T	ENSP00000355031:p.Leu844Phe					PER3_uc009vmg.1_Missense_Mutation_p.L852F|PER3_uc009vmh.1_Missense_Mutation_p.L845F|PER3_uc001aop.2_Missense_Mutation_p.L852F|PER3_uc010nzw.1_Missense_Mutation_p.L533F	p.L844F	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2707	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	844			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2532G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104242	0.37145	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10668	2.85;2.85	4.2	1.02	0.19986	.	2.753630	0.02126	N	0.056017	T	0.11196	0.0273	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.19583	0.037;0.021;0.036;0.037	B;B;B;B	0.19391	0.008;0.011;0.025;0.008	T	0.31223	-0.9951	10	0.36615	T	0.2	.	6.0045	0.19539	0.2296:0.1546:0.6158:0.0	.	844;852;852;844	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	852;844;55	ENSP00000366755:L852F;ENSP00000355031:L844F	ENSP00000355031:L844F	L	+	3	2	PER3	7810132	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.087000	0.14958	0.021000	0.15133	0.555000	0.69702	TTG		PASS	0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		7	115	7	115	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11217271	11217271	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:11217271G>T	ENST00000361445.4	-	30	4483	c.4407C>A	c.(4405-4407)acC>acA	p.T1469T		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1469	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1469T(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CGTCCTTGTTGGTGTCCATTT	0.542																																						uc001asd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(4405-4407)ACC>ACA		FK506 binding protein 12-rapamycin associated							192.0	162.0	172.0					1																	11217271		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11217271G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4407C>A	1.37:g.11217271G>T							p.T1469T	NM_004958	NP_004949	P42345	MTOR_HUMAN			30	4528	-			1469			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.4407C>A	CCDS127.1																																																																																				PASS	0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		6	61	6	61	---	---	---	---
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:12854104G>T	ENST00000332296.7	+	3	431	c.328G>T	c.(328-330)Gag>Tag	p.E110*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	110					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.E110*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGACGAGAATTTCTG	0.532																																						uc001auj.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(328-330)GAG>TAG		PRAME family member 1							172.0	188.0	182.0					1																	12854104		2203	4300	6503	SO:0001587	stop_gained	65121							g.chr1:12854104G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.328G>T	1.37:g.12854104G>T	ENSP00000332134:p.Glu110*						p.E110*	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	431	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	110					Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	c.328G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.609349	0.46527	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.7	-0.472	0.12115	.	1.946400	0.02597	N	0.100687	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.2625	0.26212	0.0:0.4738:0.5262:0.0	.	.	.	.	X	110	.	ENSP00000332134:E110X	E	+	1	0	PRAMEF1	12776691	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.331000	0.19733	-0.115000	0.11915	-0.401000	0.06369	GAG		PASS	0.532	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		7	171	7	171	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16893674	16893674	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:16893674C>A	ENST00000430580.2	-	25	3726	c.2839G>T	c.(2839-2841)Gaa>Taa	p.E947*	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	947	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGGTACTCACCATCCATGTCA	0.463																																						uc009vos.1																			0					0						c.(3064-3066)GGA>TGA		hypothetical protein LOC55672							935.0	778.0	831.0					1																	16893674		2203	4300	6503	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16893674C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2839+1G>T	1.37:g.16893674C>A						NBPF1_uc009vot.1_Nonsense_Mutation_p.E405*|NBPF1_uc001ayz.1_Nonsense_Mutation_p.E405*|NBPF1_uc010oce.1_3'UTR	p.G1022*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3952	-			1022			NBPF 6.		Q8N4E8|Q9C0H0	Nonsense_Mutation	SNP	ENST00000430580.2	37	c.3064G>T																																																																																					PASS	0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Nonsense_Mutation	16	743	16	743	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19408050	19408050	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:19408050C>A	ENST00000375254.3	-	103	15053	c.15026G>T	c.(15025-15027)cGa>cTa	p.R5009L	AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375226.2_Missense_Mutation_p.R4985L|UBR4_ENST00000375267.2_Missense_Mutation_p.R5009L|UBR4_ENST00000375217.2_Missense_Mutation_p.R5002L|UBR4_ENST00000543981.1_Missense_Mutation_p.R673L|UBR4_ENST00000429347.2_Missense_Mutation_p.R532L|UBR4_ENST00000375224.1_Missense_Mutation_p.R716L|UBR4_ENST00000375225.3_Missense_Mutation_p.R84L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5009					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.R5009L(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)		CTTCTCTTCTCGGGAAGTTGC	0.507																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(15025-15027)CGA>CTA		retinoblastoma-associated factor 600							114.0	121.0	118.0					1																	19408050		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19408050C>A	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.15026G>T	1.37:g.19408050C>A	ENSP00000364403:p.Arg5009Leu					UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Missense_Mutation_p.R532L|UBR4_uc009vph.2_Missense_Mutation_p.R643L|UBR4_uc010ocw.1_Missense_Mutation_p.R673L|UBR4_uc001bbg.2_Missense_Mutation_p.R720L|UBR4_uc001bbh.2_Missense_Mutation_p.R718L	p.R5009L	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)	103	15030	-		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)	5009					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15026G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163449	0.94727	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.992	D;D;D;D	0.74023	0.982;0.982;0.982;0.969	T	0.62909	-0.6754	10	0.72032	D	0.01	.	18.3749	0.90432	0.0:1.0:0.0:0.0	.	673;532;5009;4985	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	5009;5009;5002;4985;84;716;532;673	ENSP00000364403:R5009L;ENSP00000364416:R5009L;ENSP00000364365:R5002L;ENSP00000364374:R4985L;ENSP00000364373:R84L;ENSP00000364372:R716L;ENSP00000394173:R532L;ENSP00000444070:R673L	ENSP00000364365:R5002L	R	-	2	0	UBR4	19280637	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.399000	0.79935	2.756000	0.94617	0.563000	0.77884	CGA		PASS	0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	77	5	77	---	---	---	---
PLA2G2E	30814	broad.mit.edu	37	1	20249204	20249204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:20249204C>A	ENST00000375116.3	-	2	142	c.85G>T	c.(85-87)Gag>Tag	p.E29*		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	29					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.E29*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	GTCATCTTCTCGATCATCACC	0.612																																						uc001bct.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(85-87)GAG>TAG		phospholipase A2, group IIE precursor							107.0	104.0	105.0					1																	20249204		2203	4300	6503	SO:0001587	stop_gained	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20249204C>A	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.85G>T	1.37:g.20249204C>A	ENSP00000364257:p.Glu29*						p.E29*	NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	143	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	29					Q5VXJ8	Nonsense_Mutation	SNP	ENST00000375116.3	37	c.85G>T	CCDS200.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991751	0.93106	.	.	ENSG00000188784	ENST00000375116	.	.	.	5.97	4.03	0.46877	.	0.167865	0.42420	D	0.000713	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-27.2889	9.4995	0.39008	0.1619:0.6822:0.1559:0.0	.	.	.	.	X	29	.	ENSP00000364257:E29X	E	-	1	0	PLA2G2E	20121791	0.028000	0.19301	0.478000	0.27316	0.728000	0.41692	0.809000	0.27168	0.792000	0.33850	0.655000	0.94253	GAG		PASS	0.612	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	NM_014589		4	30	4	30	---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21177916	21177916	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:21177916G>T	ENST00000264211.8	-	22	3633	c.3439C>A	c.(3439-3441)Cgg>Agg	p.R1147R	EIF4G3_ENST00000374935.3_Silent_p.R867R|EIF4G3_ENST00000374937.3_Silent_p.R1153R|EIF4G3_ENST00000400422.1_Silent_p.R1147R|EIF4G3_ENST00000602326.1_Silent_p.R1153R|EIF4G3_ENST00000536266.1_Silent_p.R751R|EIF4G3_ENST00000537738.1_Silent_p.R637R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1147					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R1147R(1)|p.R1153R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTATTTGGCCGAGCTGTTGCA	0.488																																						uc001bec.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(3439-3441)CGG>AGG		eukaryotic translation initiation factor 4							102.0	96.0	98.0					1																	21177916		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21177916G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3439C>A	1.37:g.21177916G>T						EIF4G3_uc010odi.1_Silent_p.R751R|EIF4G3_uc010odj.1_Silent_p.R1146R|EIF4G3_uc009vpz.2_Silent_p.R867R|EIF4G3_uc001bed.2_Silent_p.R1147R|EIF4G3_uc001bef.2_Silent_p.R1183R|EIF4G3_uc001bee.2_Silent_p.R1153R	p.R1147R	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	23	3695	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1147					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.3439C>A	CCDS214.1																																																																																				PASS	0.488	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		5	56	5	56	---	---	---	---
SEPN1	57190	broad.mit.edu	37	1	26142090	26142090	+	Nonsense_Mutation	SNP	G	G	T	rs200128474	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:26142090G>T	ENST00000374315.1	+	12	1590	c.1552G>T	c.(1552-1554)Gag>Tag	p.E518*	SEPN1_ENST00000354177.4_Nonsense_Mutation_p.E518*|RP1-317E23.3_ENST00000442055.1_RNA|SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000361547.2_Nonsense_Mutation_p.E552*|RP1-317E23.6_ENST00000527604.1_Intron	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	552						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E552*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGAAGCCCGAGGAAATCGA	0.602																																						uc010oer.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1654-1656)GAG>TAG		selenoprotein N, 1 isoform 1 precursor							161.0	164.0	163.0					1																	26142090		2038	4192	6230	SO:0001587	stop_gained	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26142090G>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1552G>T	1.37:g.26142090G>T	ENSP00000363434:p.Glu518*					SEPN1_uc010oes.1_Nonsense_Mutation_p.E518*	p.E552*	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	16	1709	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	552					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Nonsense_Mutation	SNP	ENST00000374315.1	37	c.1654G>T	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070663	0.93950	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.5346	18.5253	0.90969	0.0:0.0:1.0:0.0	.	.	.	.	X	552;518;518	.	ENSP00000346109:E518X	E	+	1	0	SEPN1	26014677	1.000000	0.71417	0.980000	0.43619	0.327000	0.28475	9.293000	0.96082	2.462000	0.83206	0.561000	0.74099	GAG		PASS	0.602	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		5	72	5	72	---	---	---	---
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:28476668C>G	ENST00000373857.3	-	2	1499	c.865G>C	c.(865-867)Gac>Cac	p.D289H	PTAFR_ENST00000539896.1_Missense_Mutation_p.D289H|PTAFR_ENST00000305392.3_Missense_Mutation_p.D289H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537																																						uc001bpl.2																			3	Substitution - Missense(3)		lung(3)		0						c.(865-867)GAC>CAC		platelet-activating factor receptor							127.0	114.0	118.0					1																	28476668		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28476668C>G	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.865G>C	1.37:g.28476668C>G	ENSP00000362965:p.Asp289His					PTAFR_uc001bpm.3_Missense_Mutation_p.D289H|PTAFR_uc009vte.2_Missense_Mutation_p.D289H	p.D289H	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	992	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	289			Helical; Name=7; (Potential).		A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.865G>C	CCDS318.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154158	0.78114	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.74106	-0.81;-0.81;-0.81	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91682	0.5359	10	0.87932	D	0	.	19.1385	0.93438	0.0:1.0:0.0:0.0	.	289	P25105	PTAFR_HUMAN	H	289	ENSP00000362965:D289H;ENSP00000442658:D289H;ENSP00000301974:D289H	ENSP00000301974:D289H	D	-	1	0	PTAFR	28349255	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.818000	0.86416	2.525000	0.85131	0.563000	0.77884	GAC		PASS	0.537	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		5	18	5	18	---	---	---	---
LAPTM5	7805	broad.mit.edu	37	1	31208107	31208107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:31208107G>T	ENST00000294507.3	-	7	686	c.612C>A	c.(610-612)taC>taA	p.Y204*		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	204					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.Y204*(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGAACATGTAGACCTGGA	0.552																																						uc001bsc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(610-612)TAC>TAA		lysosomal protein transmembrane 5							202.0	178.0	187.0					1																	31208107		2203	4300	6503	SO:0001587	stop_gained	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31208107G>T	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.612C>A	1.37:g.31208107G>T	ENSP00000294507:p.Tyr204*						p.Y204*	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	7	703	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	204			Helical; (Potential).		Q13240|Q14698|Q3KP54	Nonsense_Mutation	SNP	ENST00000294507.3	37	c.612C>A	CCDS337.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570853	0.86542	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	.	.	.	5.81	3.94	0.45596	.	0.185296	0.38720	N	0.001594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.0318	9.4848	0.38922	0.1659:0.0:0.8341:0.0	.	.	.	.	X	204	.	ENSP00000294507:Y204X	Y	-	3	2	LAPTM5	30980694	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.351000	0.44071	1.476000	0.48215	-0.122000	0.15005	TAC		PASS	0.552	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		5	67	5	67	---	---	---	---
AK2	204	broad.mit.edu	37	1	33480161	33480161	+	Nonsense_Mutation	SNP	C	C	A	rs148421308	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:33480161C>A	ENST00000373449.2	-	5	501	c.460G>T	c.(460-462)Gag>Tag	p.E154*	AK2_ENST00000480134.1_Missense_Mutation_p.R122L|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Nonsense_Mutation_p.E154*|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000548033.1_Nonsense_Mutation_p.E112*|AK2_ENST00000354858.6_Nonsense_Mutation_p.E154*	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2									p.E154*(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTGAACTCCTCGTGGTAGGAA	0.453																																						uc001bwp.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(460-462)GAG>TAG		adenylate kinase 2 isoform a							195.0	204.0	201.0					1																	33480161		2203	4300	6503	SO:0001587	stop_gained	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33480161C>A	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.460G>T	1.37:g.33480161C>A	ENSP00000362548:p.Glu154*					uc001bwn.2_Intron|AK2_uc001bwo.1_Nonsense_Mutation_p.E154*|AK2_uc010ohq.1_Nonsense_Mutation_p.E146*|AK2_uc009vud.1_Nonsense_Mutation_p.E112*|AK2_uc010ohr.1_Nonsense_Mutation_p.E106*|AK2_uc001bwq.1_Nonsense_Mutation_p.E106*	p.E154*	NM_001625	NP_001616	P54819	KAD2_HUMAN			5	502	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	154						Nonsense_Mutation	SNP	ENST00000373449.2	37	c.460G>T	CCDS373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.047213|5.047213	0.93740|0.93740	.|.	.|.	ENSG00000004455|ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192|ENST00000480134	.|T	.|0.74421	.|-0.84	5.29|5.29	3.42|3.42	0.39159|0.39159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81725	.|0.4883	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.83229	.|-0.0064	.|6	0.06757|0.87932	T|D	0.87|0	-16.3951|-16.3951	12.4864|12.4864	0.55874|0.55874	0.0:0.8634:0.0:0.1366|0.0:0.8634:0.0:0.1366	.|.	.|.	.|.	.|.	X|L	154;112;154;154;154|122	.|ENSP00000450109:R122L	ENSP00000346921:E154X|ENSP00000450109:R122L	E|R	-|-	1|2	0|0	AK2|AK2	33252748|33252748	1.000000|1.000000	0.71417|0.71417	0.809000|0.809000	0.32408|0.32408	0.965000|0.965000	0.64279|0.64279	6.062000|6.062000	0.71155|0.71155	0.890000|0.890000	0.36211|0.36211	0.650000|0.650000	0.86243|0.86243	GAG|CGA		PASS	0.453	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625		7	197	7	197	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35879662	35879662	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:35879662G>T	ENST00000314607.6	+	27	4118	c.4038G>T	c.(4036-4038)tgG>tgT	p.W1346C	ZMYM4_ENST00000373297.2_Missense_Mutation_p.W1257C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1346					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W1346C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAAAATATGGGAACCTACAA	0.279																																						uc001byt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(4036-4038)TGG>TGT		zinc finger protein 262							70.0	72.0	71.0					1																	35879662		2201	4277	6478	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35879662G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4038G>T	1.37:g.35879662G>T	ENSP00000322915:p.Trp1346Cys					ZMYM4_uc009vuu.2_Missense_Mutation_p.W1314C|ZMYM4_uc001byu.2_Missense_Mutation_p.W1022C|ZMYM4_uc009vuv.2_Missense_Mutation_p.W1085C	p.W1346C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			27	4118	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1346					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.4038G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.42|18.42	3.619689|3.619689	0.66787|0.66787	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|T;T	.|0.25579	.|1.79;1.82	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.121897	.|0.64402	.|D	.|0.000013	.|T	.|0.53834	.|0.1821	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D	.|0.61080	.|0.989	.|D	.|0.70935	.|0.971	.|T	.|0.49986	.|-0.8880	.|10	.|0.72032	.|D	.|0.01	-6.1516|-6.1516	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1346	.|Q5VZL5	.|ZMYM4_HUMAN	X|C	1005|1346;1257	.|ENSP00000322915:W1346C;ENSP00000362394:W1257C	.|ENSP00000322915:W1346C	G|W	+|+	1|3	0|0	ZMYM4|ZMYM4	35652249|35652249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.796000|4.796000	0.62496|0.62496	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.279	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	74	7	74	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36383327	36383327	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:36383327G>T	ENST00000373204.4	+	16	2375	c.2162G>T	c.(2161-2163)cGa>cTa	p.R721L	AGO1_ENST00000373206.1_Splice_Site_p.R646L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	721	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R721L(1)									AAGAATGAGCGAGTGAGTGAG	0.502																																						uc001bzl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2161-2163)CGA>CTA		eukaryotic translation initiation factor 2C, 1							150.0	143.0	146.0					1																	36383327		2203	4300	6503	SO:0001630	splice_region_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36383327G>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2163+1G>T	1.37:g.36383327G>T						EIF2C1_uc001bzk.2_Missense_Mutation_p.R646L|EIF2C1_uc009vuy.2_RNA	p.R721L	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			16	2375	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	721			Piwi.		Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2162G>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228421	0.79576	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.10860	2.84;2.83	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.52364	1.645	0.80722	D	1	P	0.37466	0.596	B	0.40444	0.329	T	0.00778	-1.1570	10	0.45353	T	0.12	-4.8017	19.744	0.96245	0.0:0.0:1.0:0.0	.	721	Q9UL18	AGO1_HUMAN	L	646;721	ENSP00000362302:R646L;ENSP00000362300:R721L	ENSP00000362300:R721L	R	+	2	0	EIF2C1	36155914	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.746000	0.94184	0.561000	0.74099	CGA		PASS	0.502	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		Missense_Mutation	6	96	6	96	---	---	---	---
SF3A3	10946	broad.mit.edu	37	1	38453319	38453319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:38453319C>A	ENST00000373019.4	-	4	1184	c.229G>T	c.(229-231)Gga>Tga	p.G77*	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Intron	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	77					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G77*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATTGGGTCCTGAAATGGCA	0.403																																						uc001cci.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(229-231)GGA>TGA		splicing factor 3a, subunit 3							113.0	115.0	114.0					1																	38453319		2203	4300	6503	SO:0001587	stop_gained	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38453319C>A	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.229G>T	1.37:g.38453319C>A	ENSP00000362110:p.Gly77*					SF3A3_uc010oik.1_Intron	p.G77*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			4	353	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	77					D3DPT5|Q15460|Q5VT87	Nonsense_Mutation	SNP	ENST00000373019.4	37	c.229G>T	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	46	12.609260	0.99682	.	.	ENSG00000183431	ENST00000373019	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-18.7732	19.6316	0.95708	0.0:1.0:0.0:0.0	.	.	.	.	X	77	.	ENSP00000362110:G77X	G	-	1	0	SF3A3	38225906	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.684000	0.84104	2.642000	0.89623	0.557000	0.71058	GGA		PASS	0.403	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		7	116	7	116	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39801335	39801335	+	Silent	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:39801335A>G	ENST00000372915.3	+	36	9177	c.9090A>G	c.(9088-9090)aaA>aaG	p.K3030K	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.K1465K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Silent_p.K3025K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.K3062K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3030					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K1465K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGTGAAAAAGGGAAAGAAG	0.368																																						uc010oiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4393-4395)AAA>AAG		microfilament and actin filament cross-linker							63.0	67.0	66.0					1																	39801335		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801335A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9090A>G	1.37:g.39801335A>G						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.K1465K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4526	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3030					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.4395A>G																																																																																					PASS	0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	66	3	66	---	---	---	---
PABPC4	8761	broad.mit.edu	37	1	40035605	40035605	+	Silent	SNP	G	G	T	rs536003408		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:40035605G>T	ENST00000372857.3	-	4	1365	c.573C>A	c.(571-573)acC>acA	p.T191T	PABPC4_ENST00000372856.3_Silent_p.T191T|SNORA55_ENST00000364587.1_RNA|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Silent_p.T191T|PABPC4_ENST00000372858.3_Silent_p.T191T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	191	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.T191T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TATAAACATTGGTGAATTCCT	0.423																																						uc010oiv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(571-573)ACC>ACA		poly A binding protein, cytoplasmic 4 isoform 2							111.0	100.0	104.0					1																	40035605		2203	4300	6503	SO:0001819	synonymous_variant	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40035605G>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.573C>A	1.37:g.40035605G>T						PABPC4_uc001cdl.2_Silent_p.T191T|PABPC4_uc001cdm.2_Silent_p.T191T|SNORA55_uc001cdo.1_5'Flank	p.T191T	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	1471	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	191			RRM 3.		B1ANQ8|Q4VC03|Q6P0N3	Silent	SNP	ENST00000372857.3	37	c.573C>A	CCDS438.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.064926	0.20067	.	.	ENSG00000090621	ENST00000421687;ENST00000474378	.	.	.	5.96	2.85	0.33270	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34650	-0.9820	4	.	.	.	.	3.3833	0.07262	0.1516:0.1336:0.5768:0.1379	.	.	.	.	Q	93;104	.	.	P	-	2	0	PABPC4	39808192	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.055000	0.30467	0.798000	0.33994	0.655000	0.94253	CCA		PASS	0.423	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		6	57	6	57	---	---	---	---
ZFP69	339559	broad.mit.edu	37	1	40961342	40961342	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:40961342C>A	ENST00000372706.1	+	6	2198	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	ZFP69_ENST00000372705.3_Missense_Mutation_p.L398I|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L398I(1)									GATTAGACACCTTAGTGAACA	0.408																																						uc001cfo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1192-1194)CTT>ATT		zinc finger protein 642							63.0	67.0	66.0					1																	40961342		2203	4300	6503	SO:0001583	missense	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40961342C>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1192C>A	1.37:g.40961342C>A	ENSP00000361791:p.Leu398Ile					ZNF642_uc009vwb.2_Missense_Mutation_p.L398I|ZNF642_uc010ojk.1_Missense_Mutation_p.L399I	p.L398I	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		6	1486	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	398			C2H2-type 5.		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1192C>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970126	0.53614	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.53857	0.6;0.6	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38959	N	0.001513	T	0.70386	0.3218	M	0.72894	2.215	0.30370	N	0.782984	P	0.52577	0.954	D	0.67725	0.953	T	0.70223	-0.4931	10	0.72032	D	0.01	-11.8935	15.8405	0.78842	0.0:1.0:0.0:0.0	.	398	Q49AA0	ZN642_HUMAN	I	398	ENSP00000361791:L398I;ENSP00000361790:L398I	ENSP00000361790:L398I	L	+	1	0	ZNF642	40733929	0.967000	0.33354	1.000000	0.80357	0.971000	0.66376	2.359000	0.44142	2.854000	0.98071	0.655000	0.94253	CTT		PASS	0.408	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		5	34	5	34	---	---	---	---
CFAP57	149465	broad.mit.edu	37	1	43649507	43649507	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:43649507C>A	ENST00000372492.4	+	4	1044	c.720C>A	c.(718-720)acC>acA	p.T240T	WDR65_ENST00000528956.1_Silent_p.T240T	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		240								p.T240T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGAACCTACCAATGGCTCAA	0.483																																						uc001cip.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(718-720)ACC>ACA		WD repeat domain 65							137.0	132.0	134.0					1																	43649507		2203	4300	6503	SO:0001819	synonymous_variant	149465							g.chr1:43649507C>A																												ENST00000372492.4:c.720C>A	1.37:g.43649507C>A						EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.T229T|WDR65_uc001ciq.1_Silent_p.T240T	p.T240T	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			4	841	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	240					A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37	c.720C>A																																																																																					PASS	0.483	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			5	74	5	74	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44437066	44437066	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:44437066G>T	ENST00000255108.3	+	4	664	c.492G>T	c.(490-492)ttG>ttT	p.L164F	DPH2_ENST00000412950.2_Missense_Mutation_p.L29F|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	164					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.L164F(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGAGGCTTTGGCTACTCTCC	0.587																																						uc001ckz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)TTG>TTT		diphthamide biosynthesis protein 2 isoform a							65.0	59.0	61.0					1																	44437066		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437066G>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.492G>T	1.37:g.44437066G>T	ENSP00000255108:p.Leu164Phe					DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.L29F|DPH2_uc001clb.2_Missense_Mutation_p.L88F	p.L164F	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			4	687	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	164					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.492G>T	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844361	0.32606	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	T	0.49720	0.77	4.69	3.77	0.43336	.	0.000000	0.64402	D	0.000001	T	0.68081	0.2962	M	0.84219	2.685	0.41125	D	0.985844	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	T	0.72187	-0.4366	10	0.62326	D	0.03	-7.3422	11.118	0.48273	0.0863:0.0:0.9137:0.0	.	29;164	B4DNI8;Q9BQC3	.;DPH2_HUMAN	F	164;29	ENSP00000255108:L164F	ENSP00000255108:L164F	L	+	3	2	DPH2	44209653	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	1.989000	0.40707	1.172000	0.42781	0.552000	0.68991	TTG		PASS	0.587	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		5	18	5	18	---	---	---	---
FOXD2	2306	broad.mit.edu	37	1	47904255	47904255	+	Silent	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:47904255T>C	ENST00000334793.5	+	1	2567	c.448T>C	c.(448-450)Ttg>Ctg	p.L150L		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L150L(1)		lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GCGGCTGACGTTGAGCGAGAT	0.647																																						uc001crm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)TTG>CTG		forkhead box D2							45.0	53.0	50.0					1																	47904255		2203	4300	6503	SO:0001819	synonymous_variant	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904255T>C	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.448T>C	1.37:g.47904255T>C							p.L150L	NM_004474	NP_004465	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2567	+			150			Fork-head.		Q5SVZ3	Silent	SNP	ENST00000334793.5	37	c.448T>C	CCDS30708.1																																																																																				PASS	0.647	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		6	21	6	21	---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57170117	57170117	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:57170117G>T	ENST00000371244.4	+	7	1328	c.1262G>T	c.(1261-1263)cGa>cTa	p.R421L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R421L(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GAAGTTTACCGAGCTATGAAG	0.378																																						uc001cyk.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|stomach(1)	6						c.(1261-1263)CGA>CTA		AMP-activated protein kinase alpha 2 catalytic							87.0	90.0	89.0					1																	57170117		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57170117G>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1262G>T	1.37:g.57170117G>T	ENSP00000360290:p.Arg421Leu						p.R421L	NM_006252	NP_006243	P54646	AAPK2_HUMAN			7	1333	+			421					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1262G>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598655	0.87055	.	.	ENSG00000162409	ENST00000371244	T	0.74632	-0.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.85526	0.1206	10	0.87932	D	0	-9.5127	20.8794	0.99867	0.0:0.0:1.0:0.0	.	421	P54646	AAPK2_HUMAN	L	421	ENSP00000360290:R421L	ENSP00000360290:R421L	R	+	2	0	PRKAA2	56942705	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.378	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		5	82	5	82	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76363685	76363685	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:76363685G>A	ENST00000263187.3	+	18	2553	c.2449G>A	c.(2449-2451)Gta>Ata	p.V817I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	817					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.V817I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGTTCAACATGTAAAGAATAC	0.333								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(2449-2451)GTA>ATA	MMR	mutS homolog 4							101.0	99.0	100.0					1																	76363685		2203	4296	6499	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76363685G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2449G>A	1.37:g.76363685G>A	ENSP00000263187:p.Val817Ile						p.V817I	NM_002440	NP_002431	O15457	MSH4_HUMAN			18	2490	+			817					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2449G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399587	0.42512	.	.	ENSG00000057468	ENST00000263187	D	0.85258	-1.96	5.89	4.92	0.64577	DNA mismatch repair protein MutS, C-terminal (2);	0.424966	0.24957	N	0.034255	T	0.57359	0.2048	N	0.08118	0	0.34021	D	0.65267	B	0.19445	0.036	B	0.25759	0.063	T	0.54132	-0.8339	10	0.36615	T	0.2	-20.6599	9.3401	0.38074	0.0713:0.0:0.7835:0.1451	.	817	O15457	MSH4_HUMAN	I	817	ENSP00000263187:V817I	ENSP00000263187:V817I	V	+	1	0	MSH4	76136273	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.520000	0.53465	2.801000	0.96364	0.650000	0.86243	GTA		PASS	0.333	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		21	82	21	82	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78414917	78414917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:78414917C>A	ENST00000370768.2	-	19	1930	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	FUBP1_ENST00000489495.1_5'Flank|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E638*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E617*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	617					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.E617*(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTATAATACTCAGCCCAGGCT	0.483			"""F, N"""		oligodendroglioma																																	uc001dii.2				Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(1849-1851)GAG>TAG		far upstream element-binding protein							94.0	97.0	96.0					1																	78414917		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78414917C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1849G>T	1.37:g.78414917C>A	ENSP00000359804:p.Glu617*					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.E638*	p.E617*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			19	1938	-			617					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.1849G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	39	7.411879	0.98269	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.0027	20.352	0.98815	0.0:1.0:0.0:0.0	.	.	.	.	X	617;617;617;602;638	.	ENSP00000294623:E616X	E	-	1	0	FUBP1	78187505	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.487000	0.81328	2.803000	0.96430	0.655000	0.94253	GAG		PASS	0.483	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		6	51	6	51	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79383618	79383618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:79383618C>A	ENST00000370742.3	-	11	1642	c.1579G>T	c.(1579-1581)Gga>Tga	p.G527*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	527					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K526_G527>N*(1)|p.G527*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAATCCCTTGTTGTAG	0.418																																						uc001diq.3																			2	Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(2)	ovary(1)|skin(1)	2						c.(1579-1581)GGA>TGA		EGF, latrophilin and seven transmembrane domain							142.0	135.0	137.0					1																	79383618		1848	4098	5946	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383618C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1579G>T	1.37:g.79383618C>A	ENSP00000359778:p.Gly527*						p.G527*	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1735	-			527			Cytoplasmic (Potential).		B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1579G>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	41	8.595263	0.98877	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.95	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1284	0.72500	0.0:0.9324:0.0:0.0676	.	.	.	.	X	527	.	.	G	-	1	0	ELTD1	79156206	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	5.920000	0.70017	1.532000	0.49169	0.491000	0.48974	GGA		PASS	0.418	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		7	123	7	123	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82409087	82409087	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:82409087G>A	ENST00000370728.1	+	8	1477	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	LPHN2_ENST00000370725.1_Missense_Mutation_p.A278T|LPHN2_ENST00000370715.1_Missense_Mutation_p.A278T|LPHN2_ENST00000370723.1_Missense_Mutation_p.A278T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.A278T|LPHN2_ENST00000359929.3_Missense_Mutation_p.A278T|LPHN2_ENST00000370727.1_Missense_Mutation_p.A278T|LPHN2_ENST00000370730.1_Missense_Mutation_p.A278T|LPHN2_ENST00000319517.6_Missense_Mutation_p.A278T|LPHN2_ENST00000394879.1_Missense_Mutation_p.A278T|LPHN2_ENST00000271029.4_Missense_Mutation_p.A278T|LPHN2_ENST00000370713.1_Missense_Mutation_p.A278T|LPHN2_ENST00000335786.5_Missense_Mutation_p.A278T|LPHN2_ENST00000370721.1_Missense_Mutation_p.A282T			O95490	LPHN2_HUMAN	latrophilin 2	278	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A278P(2)|p.A278T(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTCATTTACGCCACTGAACA	0.428																																						uc001dit.3																			4	Substitution - Missense(4)	p.A278P(2)	ovary(2)|lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(832-834)GCC>ACC		latrophilin 2 precursor							141.0	132.0	135.0					1																	82409087		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409087G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.832G>A	1.37:g.82409087G>A	ENSP00000359763:p.Ala278Thr					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A278T|LPHN2_uc001div.2_Missense_Mutation_p.A278T|LPHN2_uc009wcd.2_Missense_Mutation_p.A278T	p.A278T	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1013	+			278			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.832G>A		.	.	.	.	.	.	.	.	.	.	G	17.78	3.474509	0.63737	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.89622	0.6768	L	0.55834	1.745	0.80722	D	1	D;D;D	0.62365	0.983;0.96;0.991	P;B;P	0.55055	0.767;0.346;0.767	D	0.89613	0.3843	10	0.48119	T	0.1	.	14.2853	0.66243	0.0714:0.0:0.9286:0.0	.	278;278;278	O95490-3;O95490-4;O95490-2	.;.;.	T	282;278;278;278;278;278;278;278;278;278;278;278;278;278	ENSP00000359756:A282T;ENSP00000359763:A278T;ENSP00000359765:A278T;ENSP00000359762:A278T;ENSP00000359760:A278T;ENSP00000359758:A278T;ENSP00000353006:A278T;ENSP00000359750:A278T;ENSP00000359748:A278T;ENSP00000322270:A278T;ENSP00000359752:A278T;ENSP00000378344:A278T;ENSP00000271029:A278T;ENSP00000337306:A278T	ENSP00000271029:A278T	A	+	1	0	LPHN2	82181675	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.476000	0.97823	1.336000	0.45506	0.455000	0.32223	GCC		PASS	0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		11	38	11	38	---	---	---	---
SSX2IP	117178	broad.mit.edu	37	1	85127909	85127909	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:85127909C>A	ENST00000342203.3	-	8	1162	c.899G>T	c.(898-900)aGa>aTa	p.R300I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R273I|SSX2IP_ENST00000437941.2_Missense_Mutation_p.R273I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R300I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	300					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R300I(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACTCTTTCTCTAGGTTTCTT	0.338																																						uc001dkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(898-900)AGA>ATA		synovial sarcoma, X breakpoint 2 interacting							165.0	184.0	178.0					1																	85127909		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85127909C>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.899G>T	1.37:g.85127909C>A	ENSP00000340279:p.Arg300Ile					SSX2IP_uc001dkf.2_Missense_Mutation_p.R273I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.R273I|SSX2IP_uc001dki.2_Missense_Mutation_p.R300I|SSX2IP_uc010osa.1_Missense_Mutation_p.R273I|SSX2IP_uc001dkj.2_Missense_Mutation_p.R300I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R296I	p.R300I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	9	1174	-			300					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.899G>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747162	0.49257	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.48522	0.81;0.82	5.48	3.34	0.38264	.	0.172186	0.64402	D	0.000009	T	0.16214	0.0390	L	0.34521	1.04	0.47778	D	0.999513	B;B;B	0.22909	0.077;0.001;0.001	B;B;B	0.20767	0.031;0.003;0.003	T	0.15925	-1.0420	10	0.72032	D	0.01	-10.8106	2.3032	0.04167	0.3121:0.4887:0.0:0.1992	.	296;300;273	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	300;273;296;300	ENSP00000340279:R300I;ENSP00000412781:R273I	ENSP00000340279:R300I	R	-	2	0	SSX2IP	84900497	0.971000	0.33674	0.992000	0.48379	0.923000	0.55619	1.533000	0.36040	1.298000	0.44778	0.591000	0.81541	AGA		PASS	0.338	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		9	172	9	172	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86900260	86900260	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:86900260G>C	ENST00000370565.4	+	6	966	c.804G>C	c.(802-804)caG>caC	p.Q268H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	268					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.Q268H(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TACAGAACCAGATGTGCAGCC	0.453																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(802-804)CAG>CAC		chloride channel accessory 2 precursor							161.0	144.0	150.0					1																	86900260		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86900260G>C		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.804G>C	1.37:g.86900260G>C	ENSP00000359596:p.Gln268His						p.Q268H	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	6	966	+		Lung NSC(277;0.238)	268			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.804G>C	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006424	0.54361	.	.	ENSG00000137975	ENST00000370565	T	0.03094	4.05	6.17	2.62	0.31277	.	0.662284	0.15925	N	0.237955	T	0.01661	0.0053	L	0.55834	1.745	0.26156	N	0.980074	P	0.37955	0.612	B	0.39419	0.299	T	0.45175	-0.9279	10	0.56958	D	0.05	-2.009	5.4275	0.16433	0.7219:0.0:0.1503:0.1279	.	268	Q9UQC9	CLCA2_HUMAN	H	268	ENSP00000359596:Q268H	ENSP00000359596:Q268H	Q	+	3	2	CLCA2	86672848	0.692000	0.27719	0.981000	0.43875	0.812000	0.45895	0.517000	0.22832	0.202000	0.20498	-1.106000	0.02097	CAG		PASS	0.453	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		10	49	10	49	---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87031604	87031604	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:87031604C>A	ENST00000370563.3	+	6	897	c.855C>A	c.(853-855)acC>acA	p.T285T	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	285					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.T285T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTAAAAACACCATACCCATGG	0.408																																						uc009wcs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(853-855)ACC>ACA		chloride channel accessory 4							154.0	145.0	147.0					1																	87031604		1873	4114	5987	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031604C>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.855C>A	1.37:g.87031604C>A						CLCA4_uc009wct.2_Silent_p.T48T|CLCA4_uc009wcu.2_Silent_p.T105T	p.T285T	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	899	+		Lung NSC(277;0.238)	285					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.855C>A	CCDS41355.1																																																																																				PASS	0.408	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		8	97	8	97	---	---	---	---
LRRC8B	23507	broad.mit.edu	37	1	90048540	90048540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:90048540G>T	ENST00000330947.2	+	5	691	c.331G>T	c.(331-333)Gag>Tag	p.E111*	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.E111*|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.E111*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	111					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E111*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CGTCTGTTACGAGAAACAGCT	0.512																																						uc001dni.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(331-333)GAG>TAG		leucine rich repeat containing 8 family, member							157.0	152.0	154.0					1																	90048540		2203	4300	6503	SO:0001587	stop_gained	23507					integral to membrane		g.chr1:90048540G>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.331G>T	1.37:g.90048540G>T	ENSP00000332674:p.Glu111*					LRRC8B_uc001dnh.2_Nonsense_Mutation_p.E111*|LRRC8B_uc001dnj.2_Nonsense_Mutation_p.E111*	p.E111*	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	838	+		all_lung(203;0.17)	111					D3DT28|Q6UY21|Q8N106|Q92627	Nonsense_Mutation	SNP	ENST00000330947.2	37	c.331G>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265460	0.80358	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8535	0.92241	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	.	E	+	1	0	LRRC8B	89821128	1.000000	0.71417	0.990000	0.47175	0.797000	0.45037	7.809000	0.86057	2.513000	0.84729	0.655000	0.94253	GAG		PASS	0.512	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		7	90	7	90	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406192	91406192	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:91406192G>T	ENST00000370440.1	-	3	936	c.719C>A	c.(718-720)aCa>aAa	p.T240K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T240K			Q9H582	ZN644_HUMAN	zinc finger protein 644	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T240K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCCGTTACTGTATTGACACA	0.368																																						uc001dnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(718-720)ACA>AAA		zinc finger protein 644 isoform 1							170.0	174.0	173.0					1																	91406192		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406192G>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.719C>A	1.37:g.91406192G>T	ENSP00000359469:p.Thr240Lys					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T240K	p.T240K	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	861	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	240					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.719C>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331023	0.41297	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00596	6.32;6.32	6.03	6.03	0.97812	.	0.471757	0.23702	N	0.045415	T	0.00328	0.0010	N	0.19112	0.55	0.34492	D	0.705128	B	0.18166	0.026	B	0.18561	0.022	T	0.70454	-0.4867	10	0.35671	T	0.21	-0.0974	20.5568	0.99304	0.0:0.0:1.0:0.0	.	240	Q9H582	ZN644_HUMAN	K	240	ENSP00000359469:T240K;ENSP00000337008:T240K	ENSP00000337008:T240K	T	-	2	0	ZNF644	91178780	0.988000	0.35896	0.924000	0.36721	0.958000	0.62258	4.061000	0.57485	2.861000	0.98227	0.655000	0.94253	ACA		PASS	0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		6	79	6	79	---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92546225	92546225	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:92546225C>A	ENST00000342818.3	+	1	333	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	BTBD8_ENST00000370382.3_Silent_p.R33R|BTBD8_ENST00000540648.1_Silent_p.R33R	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	33						nucleus (GO:0005634)		p.R33R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GCCGTGTGAGCGGCGCCGGCT	0.627																																						uc001doo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(97-99)CGG>AGG		BTB (POZ) domain containing 8							32.0	35.0	34.0					1																	92546225		2203	4300	6503	SO:0001819	synonymous_variant	284697					nucleus		g.chr1:92546225C>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.97C>A	1.37:g.92546225C>A						BTBD8_uc010otc.1_RNA	p.R33R	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	1	364	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	33					Q6V9S5	Silent	SNP	ENST00000342818.3	37	c.97C>A	CCDS737.1																																																																																				PASS	0.627	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		4	16	4	16	---	---	---	---
RPL5	6125	broad.mit.edu	37	1	93303026	93303026	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:93303026C>A	ENST00000370321.3	+	6	631	c.541C>A	c.(541-543)Cct>Act	p.P181T	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	181					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P181T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CAAACGATTCCCTGGTTATGA	0.358																																						uc001doz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)CCT>ACT		ribosomal protein L5							58.0	61.0	60.0					1																	93303026		2203	4298	6501	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93303026C>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.541C>A	1.37:g.93303026C>A	ENSP00000359345:p.Pro181Thr					FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.P131T|RPL5_uc001dpd.2_5'UTR	p.P181T	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	6	619	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	181					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.541C>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460618	0.84317	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	T	0.68903	-0.36	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	H	0.96777	3.88	0.80722	D	1	D	0.59357	0.985	P	0.55749	0.783	D	0.89221	0.3571	10	0.72032	D	0.01	.	19.5463	0.95299	0.0:1.0:0.0:0.0	.	181	P46777	RL5_HUMAN	T	131;181	ENSP00000359345:P181T	ENSP00000359345:P181T	P	+	1	0	RPL5	93075614	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.690000	0.84178	2.679000	0.91253	0.655000	0.94253	CCT		PASS	0.358	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	37	5	37	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93705398	93705398	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:93705398C>A	ENST00000343253.7	+	21	3425	c.2923C>A	c.(2923-2925)Caa>Aaa	p.Q975K	CCDC18_ENST00000557479.1_Missense_Mutation_p.Q1094K|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q976K|CCDC18_ENST00000334652.5_Nonsense_Mutation_p.S268*|CCDC18_ENST00000338949.4_Missense_Mutation_p.Q731K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	975								p.Q1094K(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACAGAAGGCTCAATTATCATT	0.333																																						uc001dpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3280-3282)CAA>AAA		sarcoma antigen NY-SAR-41							88.0	80.0	83.0					1																	93705398		1813	4086	5899	SO:0001583	missense	343099							g.chr1:93705398C>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2923C>A	1.37:g.93705398C>A	ENSP00000343377:p.Gln975Lys					CCDC18_uc009wdl.1_Missense_Mutation_p.Q611K	p.Q1094K	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	21	3448	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	975			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.3280C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	54|54	23.241126|23.241126	0.99953|0.99953	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000334652	T;T|.	0.77229|.	-1.08;-1.08|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.059654|.	0.64402|.	D|.	0.000002|.	T|.	0.52661|.	0.1748|.	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	A|A	0.999996|0.999996	D;D|.	0.71674|.	0.998;0.998|.	P;D|.	0.66084|.	0.879;0.941|.	T|.	0.56390|.	-0.7987|.	9|.	0.21540|0.02654	T|T	0.41|1	.|.	19.9023|19.9023	0.96990|0.96990	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	975;1094|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	K|X	975;976;1094;731;651|268	ENSP00000383808:Q976K;ENSP00000451099:Q1094K|.	ENSP00000344380:Q731K|ENSP00000334084:S268X	Q|S	+|+	1|2	0|0	CCDC18|CCDC18	93477986|93477986	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.970000|0.970000	0.65996|0.65996	5.983000|5.983000	0.70540|0.70540	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	CAA|TCA		PASS	0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		6	53	6	53	---	---	---	---
GCLM	2730	broad.mit.edu	37	1	94367168	94367168	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:94367168C>A	ENST00000370238.3	-	3	496	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	84					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)	p.D84Y(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	TCTCTTTCATCAGGATTTATC	0.308																																						uc001dqg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GAT>TAT		glutamate-cysteine ligase regulatory protein	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						79.0	80.0	79.0					1																	94367168		2202	4299	6501	SO:0001583	missense	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94367168C>A	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.250G>T	1.37:g.94367168C>A	ENSP00000359258:p.Asp84Tyr						p.D84Y	NM_002061	NP_002052	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	3	543	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)	84					A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	ENST00000370238.3	37	c.250G>T	CCDS746.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842391	0.71488	.	.	ENSG00000023909	ENST00000370238	T	0.25414	1.8	6.16	6.16	0.99307	NADP-dependent oxidoreductase domain (2);	0.128277	0.64402	D	0.000001	T	0.34832	0.0911	L	0.38531	1.155	0.58432	D	0.999999	D	0.61080	0.989	D	0.63113	0.911	T	0.03473	-1.1033	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	84	P48507	GSH0_HUMAN	Y	84	ENSP00000359258:D84Y	ENSP00000359258:D84Y	D	-	1	0	GCLM	94139756	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	6.154000	0.71826	2.937000	0.99478	0.650000	0.86243	GAT		PASS	0.308	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061		27	95	27	95	---	---	---	---
SLC30A7	148867	broad.mit.edu	37	1	101377733	101377733	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:101377733G>T	ENST00000370112.4	+	5	637	c.450G>T	c.(448-450)gtG>gtT	p.V150V	SLC30A7_ENST00000357650.4_Silent_p.V150V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	150					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)	p.V150V(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTGGGTTTGTGGTAAACCTAA	0.383																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)GTG>GTT		zinc transporter like 2							251.0	235.0	241.0					1																	101377733		2203	4300	6503	SO:0001819	synonymous_variant	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377733G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.450G>T	1.37:g.101377733G>T						SLC30A7_uc001dto.2_Silent_p.V150V	p.V150V	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	637	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	150			Helical; (Potential).		B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	c.450G>T	CCDS776.1																																																																																				PASS	0.383	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		8	190	8	190	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103483389	103483389	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:103483389T>A	ENST00000370096.3	-	11	1712	c.1400A>T	c.(1399-1401)gAc>gTc	p.D467V	COL11A1_ENST00000512756.1_Missense_Mutation_p.D351V|COL11A1_ENST00000353414.4_Missense_Mutation_p.D428V|COL11A1_ENST00000358392.2_Missense_Mutation_p.D479V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	467	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D467V(1)|p.D479V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCGCCAGGGTCACCAGGGGG	0.378																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1399-1401)GAC>GTC		alpha 1 type XI collagen isoform A							92.0	94.0	94.0					1																	103483389		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483389T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1400A>T	1.37:g.103483389T>A	ENSP00000359114:p.Asp467Val					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D479V|COL11A1_uc001dun.2_Missense_Mutation_p.D428V|COL11A1_uc009weh.2_Missense_Mutation_p.D351V	p.D467V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1718	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	467			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1400A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414660	0.62511	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.997;0.994;0.996;0.998	D	0.94955	0.8103	10	0.54805	T	0.06	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	351;428;479;467	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	V	467;479;428;351;479	ENSP00000359114:D467V;ENSP00000351163:D479V;ENSP00000302551:D428V;ENSP00000426533:D351V;ENSP00000408640:D479V	ENSP00000302551:D428V	D	-	2	0	COL11A1	103255977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.757000	0.74924	2.159000	0.67721	0.528000	0.53228	GAC		PASS	0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		18	53	18	53	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104118116	104118116	+	Missense_Mutation	SNP	G	G	T	rs568943580		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:104118116G>T	ENST00000361355.4	+	9	1671	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	352					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.R352L(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGTTTTACACGAGTAATGTCA	0.333																																						uc001duq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)CGA>CTA		amylase, pancreatic, alpha-2B precursor							229.0	235.0	233.0					1																	104118116		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104118116G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1055G>T	1.37:g.104118116G>T	ENSP00000354610:p.Arg352Leu					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R352L|AMY2B_uc001dus.1_RNA	p.R352L	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	9	1671	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	352				Chloride (By similarity).	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1055G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112526	0.94339	.	.	ENSG00000240038	ENST00000361355	.	.	.	5.14	5.14	0.70334	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87827	0.2642	9	0.87932	D	0	.	18.5914	0.91214	0.0:0.0:1.0:0.0	.	352	P19961	AMY2B_HUMAN	L	352	.	ENSP00000354610:R352L	R	+	2	0	AMY2B	103919639	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.403000	0.97302	2.384000	0.81235	0.563000	0.77884	CGA		PASS	0.333	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		7	268	7	268	---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113231656	113231656	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:113231656C>A	ENST00000413052.2	+	3	627	c.237C>A	c.(235-237)ctC>ctA	p.L79L	MOV10_ENST00000369644.1_Silent_p.L23L|MOV10_ENST00000369645.1_Silent_p.L79L|MOV10_ENST00000357443.2_Silent_p.L79L|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	79					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.L79L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCTTCAGACTCGACCGCTGGG	0.537																																						uc001eck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(235-237)CTC>CTA		Mov10, Moloney leukemia virus 10, homolog							81.0	85.0	84.0					1																	113231656		2203	4300	6503	SO:0001819	synonymous_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113231656C>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.237C>A	1.37:g.113231656C>A						MOV10_uc001ecl.2_Silent_p.L79L|MOV10_uc001ecn.2_Silent_p.L79L|MOV10_uc001ecm.2_Silent_p.L19L|MOV10_uc009wgj.1_Silent_p.L19L	p.L79L	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	3	507	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	79					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	c.237C>A	CCDS853.1																																																																																				PASS	0.537	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		5	58	5	58	---	---	---	---
NRAS	4893	broad.mit.edu	37	1	115256591	115256591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:115256591G>T	ENST00000369535.4	-	3	373	c.120C>A	c.(118-120)taC>taA	p.Y40*		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	40					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Y40*(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		CTTGTTTTCTGTAAGAATCCT	0.443		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.2		50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			melanoma|MM|AML|thyroid		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607						c.(118-120)TAC>TAA		neuroblastoma RAS viral (v-ras) oncogene homolog							109.0	109.0	109.0					1																	115256591		2203	4300	6503	SO:0001587	stop_gained	4893	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256591G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.120C>A	1.37:g.115256591G>T	ENSP00000358548:p.Tyr40*	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Y40*	NM_002524	NP_002515	P01111	RASN_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)	3	374	-	all_epithelial(7;5.11e-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)	40			Effector region.		Q14971|Q15104|Q15282	Nonsense_Mutation	SNP	ENST00000369535.4	37	c.120C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774660	0.96922	.	.	ENSG00000213281	ENST00000369535	.	.	.	5.08	3.07	0.35406	.	0.000000	0.52532	U	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7186	0.28719	0.3171:0.0:0.6829:0.0	.	.	.	.	X	40	.	ENSP00000358548:Y40X	Y	-	3	2	NRAS	115058114	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.652000	0.46682	1.362000	0.46000	0.655000	0.94253	TAC		PASS	0.443	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		5	85	5	85	---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117660706	117660706	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:117660706G>T	ENST00000256649.4	-	2	1698	c.1172C>A	c.(1171-1173)aCg>aAg	p.T391K	TRIM45_ENST00000369464.3_Intron|TRIM45_ENST00000369461.3_Missense_Mutation_p.T334K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	391					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T391K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GGTATTAATCGTACCATAAAT	0.463																																						uc001egz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1171-1173)ACG>AAG		tripartite motif-containing 45 isoform 1							130.0	130.0	130.0					1																	117660706		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117660706G>T		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1172C>A	1.37:g.117660706G>T	ENSP00000256649:p.Thr391Lys					TRIM45_uc009whe.2_Intron|TRIM45_uc001eha.2_Missense_Mutation_p.T287K	p.T391K	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1760	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	391					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1172C>A	CCDS893.1	.	.	.	.	.	.	.	.	.	.	G	8.069	0.769876	0.15983	.	.	ENSG00000134253	ENST00000256649;ENST00000369461	T;T	0.80123	-1.34;-1.06	4.75	3.83	0.44106	.	0.432697	0.26460	N	0.024244	T	0.32194	0.0821	N	0.08118	0	0.22719	N	0.998811	B	0.26195	0.144	B	0.19148	0.024	T	0.33240	-0.9876	10	0.05959	T	0.93	-4.344	8.3862	0.32501	0.1766:0.0:0.8234:0.0	.	391	Q9H8W5	TRI45_HUMAN	K	391;334	ENSP00000256649:T391K;ENSP00000358473:T334K	ENSP00000256649:T391K	T	-	2	0	TRIM45	117462229	1.000000	0.71417	0.924000	0.36721	0.001000	0.01503	2.430000	0.44766	1.223000	0.43536	0.655000	0.94253	ACG		PASS	0.463	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		6	110	6	110	---	---	---	---
HSD3B2	3284	broad.mit.edu	37	1	119964870	119964870	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:119964870G>T	ENST00000543831.1	+	4	995	c.746G>T	c.(745-747)cGa>cTa	p.R249L	HSD3B2_ENST00000369416.3_Missense_Mutation_p.R249L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	249					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.R249L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCAAGTGTCCGAGGTCAATTC	0.512																																						uc001ehs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(745-747)CGA>CTA		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						47.0	52.0	50.0					1																	119964870		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964870G>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.746G>T	1.37:g.119964870G>T	ENSP00000445122:p.Arg249Leu					HSD3B2_uc001eht.2_Missense_Mutation_p.R249L|HSD3B2_uc001ehu.2_Intron	p.R249L	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1519	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	249					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.746G>T	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	10.32	1.318634	0.23994	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.84589	-1.87;-1.87	3.98	-2.04	0.07343	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.492844	0.22086	N	0.064831	T	0.61640	0.2363	L	0.42245	1.32	0.20873	N	0.999836	P	0.35139	0.486	B	0.37780	0.258	T	0.60388	-0.7273	9	.	.	.	0.1558	7.9805	0.30181	0.1972:0.1595:0.6432:0.0	.	249	P26439	3BHS2_HUMAN	L	249	ENSP00000445122:R249L;ENSP00000358424:R249L	.	R	+	2	0	HSD3B2	119766393	0.009000	0.17119	0.731000	0.30826	0.450000	0.32258	0.336000	0.19823	-0.663000	0.05331	-1.261000	0.01458	CGA		PASS	0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		4	38	4	38	---	---	---	---
REG4	83998	broad.mit.edu	37	1	120342482	120342482	+	Nonsense_Mutation	SNP	C	C	A	rs149733140	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:120342482C>A	ENST00000354219.1	-	5	608	c.169G>T	c.(169-171)Gag>Tag	p.E57*	REG4_ENST00000530654.1_Nonsense_Mutation_p.E57*|REG4_ENST00000256585.5_Nonsense_Mutation_p.E57*	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	57	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.E57*(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GACTGACACTCGAGCTATGTA	0.507																																						uc001eig.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(169-171)GAG>TAG		regenerating islet-derived family, member 4							184.0	173.0	177.0					1																	120342482		2203	4300	6503	SO:0001587	stop_gained	83998					extracellular region	sugar binding	g.chr1:120342482C>A	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.169G>T	1.37:g.120342482C>A	ENSP00000346158:p.Glu57*					REG4_uc001eif.2_Nonsense_Mutation_p.E57*	p.E57*	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	609	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	57			C-type lectin.		Q8NER6|Q8NER7	Nonsense_Mutation	SNP	ENST00000354219.1	37	c.169G>T	CCDS906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470256	0.96274	.	.	ENSG00000134193	ENST00000354219;ENST00000256585;ENST00000369402;ENST00000530654	.	.	.	4.89	3.02	0.34903	.	0.269292	0.31145	N	0.008174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-30.972	6.9943	0.24774	0.0:0.7339:0.1729:0.0932	.	.	.	.	X	57	.	ENSP00000256585:E57X	E	-	1	0	REG4	120144005	0.998000	0.40836	0.993000	0.49108	0.171000	0.22731	1.862000	0.39448	0.677000	0.31305	-0.817000	0.03123	GAG		PASS	0.507	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		8	89	8	89	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144857696	144857696	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:144857696C>A	ENST00000369354.3	-	39	6547	c.6358G>T	c.(6358-6360)Ggt>Tgt	p.G2120C	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G2205C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G2120C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G2014C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.G2256C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2120					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.G2120C(4)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAATTCATACCAACATCCCGG	0.512			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		4	Substitution - Missense(4)		lung(4)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6358-6360)GGT>TGT		phosphodiesterase 4D interacting protein isoform							150.0	165.0	160.0					1																	144857696		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857696C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6358G>T	1.37:g.144857696C>A	ENSP00000358360:p.Gly2120Cys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.G2014C|PDE4DIP_uc001elv.3_Missense_Mutation_p.G1127C	p.G2120C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	39	6649	-			2120					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6358G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.57|15.57	2.873691|2.873691	0.51695|0.51695	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.02280|.	4.37;4.37;4.36;4.43;4.37|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|.	.|.	.|.	.|.	T|T	0.70448|0.70448	0.3225|0.3225	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.991;1.0|.	P;D|.	0.97110|.	0.823;1.0|.	T|T	0.71866|0.71866	-0.4463|-0.4463	9|5	0.62326|.	D|.	0.03|.	.|.	15.9054|15.9054	0.79423|0.79423	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2014;2120|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	C|F	2014;2120;2120;2205;2256|196	ENSP00000327209:G2014C;ENSP00000358360:G2120C;ENSP00000358363:G2120C;ENSP00000435654:G2205C;ENSP00000358366:G2256C|.	ENSP00000327209:G2014C|.	G|L	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143569053|143569053	1.000000|1.000000	0.71417|0.71417	0.229000|0.229000	0.23960|0.23960	0.189000|0.189000	0.23516|0.23516	4.875000|4.875000	0.63072|0.63072	2.428000|2.428000	0.82296|0.82296	0.555000|0.555000	0.69702|0.69702	GGT|TTG		PASS	0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	142	8	142	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	145015873	145015873	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:145015873C>A	ENST00000530740.1	-	3	466	c.428G>T	c.(427-429)cGa>cTa	p.R143L	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R143L|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.R72L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R72L|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.R72L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R143L|RP11-326G21.1_ENST00000610119.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	6			K -> E (in dbSNP:rs1747958).		cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R143L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCAAAGTCTCGAAGAGCCTG	0.433			T	PDGFRB	MPD																																	uc001elx.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(214-216)CGA>CTA		phosphodiesterase 4D interacting protein isoform							508.0	598.0	568.0					1																	145015873		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015873C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.428G>T	1.37:g.145015873C>A	ENSP00000435654:p.Arg143Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.R72L|PDE4DIP_uc001elo.2_Missense_Mutation_p.R143L|PDE4DIP_uc001emh.2_Missense_Mutation_p.R143L|uc001emj.2_Intron	p.R72L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	550	-			6					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.215G>T		.	.	.	.	.	.	.	.	.	.	C	27.7	4.850612	0.91277	.	.	ENSG00000178104	ENST00000313382;ENST00000530740;ENST00000369359;ENST00000530078;ENST00000369348;ENST00000531369;ENST00000493130;ENST00000478649	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.26	5.26	0.73747	.	.	.	.	.	T	0.57577	0.2063	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.63301	-0.6668	9	0.87932	D	0	.	14.2417	0.65961	0.0:1.0:0.0:0.0	.	72;143;72	Q5VU43-3;E9PJ64;E9PQH9	.;.;.	L	72;143;143;72;143;73;72;72	ENSP00000327209:R72L;ENSP00000435654:R143L;ENSP00000358366:R143L;ENSP00000358354:R143L;ENSP00000435616:R73L	ENSP00000327209:R72L	R	-	2	0	PDE4DIP	143727230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.560000	0.53763	2.727000	0.93392	0.655000	0.94253	CGA		PASS	0.433	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		10	595	10	595	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150429786	150429786	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:150429786G>T	ENST00000369068.4	+	8	897	c.893G>T	c.(892-894)cGa>cTa	p.R298L	RPRD2_ENST00000539519.1_Missense_Mutation_p.R272L|RPRD2_ENST00000401000.4_Missense_Mutation_p.R272L|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	298						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R298L(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTGCTAACCGAGTAAACAAT	0.403																																						uc009wlr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(892-894)CGA>CTA		Regulation of nuclear pre-mRNA domain containing							81.0	77.0	78.0					1																	150429786		1845	4096	5941	SO:0001583	missense	23248						protein binding	g.chr1:150429786G>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.893G>T	1.37:g.150429786G>T	ENSP00000358064:p.Arg298Leu					RPRD2_uc010pcc.1_Missense_Mutation_p.R272L|RPRD2_uc001eup.3_Missense_Mutation_p.R272L	p.R298L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			8	1094	+			298					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.893G>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925860	0.92319	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.59638	0.25;0.26;0.27	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.995;0.997	T	0.72984	-0.4125	10	0.72032	D	0.01	-5.2852	19.241	0.93883	0.0:0.0:1.0:0.0	.	272;298;272	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	L	272;272;298	ENSP00000383785:R272L;ENSP00000445482:R272L;ENSP00000358064:R298L	ENSP00000358064:R298L	R	+	2	0	RPRD2	148696410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.992000	0.93519	2.841000	0.97950	0.637000	0.83480	CGA		PASS	0.403	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		5	73	5	73	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150550762	150550762	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:150550762G>T	ENST00000369026.2	-	2	953	c.894C>A	c.(892-894)ctC>ctA	p.L298L	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	298					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L298L(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGTCCTTACGAGAACGTCTG	0.428																																						uc001euz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(892-894)CTC>CTA		myeloid cell leukemia sequence 1 isoform 1							161.0	164.0	163.0					1																	150550762		2203	4300	6503	SO:0001819	synonymous_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150550762G>T	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.894C>A	1.37:g.150550762G>T						MCL1_uc010pch.1_Silent_p.L188L|MCL1_uc001eva.2_Intron	p.L298L	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	1024	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		298					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	c.894C>A	CCDS957.1																																																																																				PASS	0.428	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		9	159	9	159	---	---	---	---
CTSK	1513	broad.mit.edu	37	1	150779234	150779234	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:150779234C>A	ENST00000271651.3	-	2	158	c.48G>T	c.(46-48)ctG>ctT	p.L16L	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	16					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.L75L(1)|p.L16L(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCAGGGTACAGAGCAAAGC	0.532																																						uc001evp.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(46-48)CTG>CTT		cathepsin K preproprotein							165.0	140.0	149.0					1																	150779234		2203	4300	6503	SO:0001819	synonymous_variant	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150779234C>A	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.48G>T	1.37:g.150779234C>A						CTSK_uc001evq.1_5'UTR|CTSK_uc009wma.1_RNA	p.L16L	NM_000396	NP_000387	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	172	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		16					Q6FHS6	Silent	SNP	ENST00000271651.3	37	c.48G>T	CCDS969.1																																																																																				PASS	0.532	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		7	72	7	72	---	---	---	---
MLLT11	10962	broad.mit.edu	37	1	151039902	151039902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:151039902G>T	ENST00000368921.3	+	2	3004	c.202G>T	c.(202-204)Gag>Tag	p.E68*	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	68					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of apoptotic process (GO:0043065)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of transcription, DNA-templated (GO:0045893)	intracellular (GO:0005622)		p.E68*(1)		upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCCTCCTTGAGTACAGCAC	0.522																																						uc001ewq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(202-204)GAG>TAG		MLLT11 protein							134.0	131.0	132.0					1																	151039902		2203	4300	6503	SO:0001587	stop_gained	10962				positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent			g.chr1:151039902G>T	BC006471	CCDS982.1	1q21	2008-02-05			ENSG00000213190	ENSG00000213190			16997	protein-coding gene	gene with protein product	"""ALL1 fused gene from chromosome 1q"""	604684				7833468	Standard	NM_006818		Approved	AF1Q	uc001ewq.3	Q13015	OTTHUMG00000035160	ENST00000368921.3:c.202G>T	1.37:g.151039902G>T	ENSP00000357917:p.Glu68*						p.E68*	NM_006818	NP_006809	Q13015	AF1Q_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1087	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		68						Nonsense_Mutation	SNP	ENST00000368921.3	37	c.202G>T	CCDS982.1	.	.	.	.	.	.	.	.	.	.	G	55	23.511761	0.99955	.	.	ENSG00000213190	ENST00000368921	.	.	.	6.06	2.99	0.34606	.	0.439724	0.18349	U	0.143925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.5691	10.1917	0.43030	0.0:0.4282:0.4336:0.1382	.	.	.	.	X	68	.	ENSP00000357917:E68X	E	+	1	0	MLLT11	149306526	0.874000	0.30092	0.989000	0.46669	0.955000	0.61496	1.307000	0.33516	0.847000	0.35167	0.655000	0.94253	GAG		PASS	0.522	MLLT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085103.1	NM_006818		7	97	7	97	---	---	---	---
PSMD4	5710	broad.mit.edu	37	1	151239682	151239682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:151239682G>T	ENST00000368884.3	+	10	1077	c.997G>T	c.(997-999)Gag>Tag	p.E333*	PSMD4_ENST00000368881.4_Nonsense_Mutation_p.E336*	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	333					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E333*(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGACCCCGAGTTCCTTCA	0.557																																						uc001exl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(997-999)GAG>TAG		proteasome 26S non-ATPase subunit 4							131.0	121.0	124.0					1																	151239682		2203	4300	6503	SO:0001587	stop_gained	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151239682G>T	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.997G>T	1.37:g.151239682G>T	ENSP00000357879:p.Glu333*					PSMD4_uc001exn.2_Nonsense_Mutation_p.E336*	p.E333*	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		10	1059	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		333					D3DV16|Q5VWC5|Q9NS92	Nonsense_Mutation	SNP	ENST00000368884.3	37	c.997G>T	CCDS991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.140595|4.140595	0.77775|0.77775	.|.	.|.	ENSG00000159352|ENSG00000159352	ENST00000368884;ENST00000368881|ENST00000445776	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69378	.|0.3104	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65401	.|-0.6177	.|4	0.27082|.	T|.	0.32|.	-32.344|-32.344	18.4558|18.4558	0.90720|0.90720	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	333;336|148	.|.	ENSP00000357876:E336X|.	E|R	+|+	1|2	0|0	PSMD4|PSMD4	149506306|149506306	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.992000|0.992000	0.81027|0.81027	8.929000|8.929000	0.92859|0.92859	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.557	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		6	94	6	94	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127904	152127904	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:152127904G>T	ENST00000316073.3	-	3	1735	c.1671C>A	c.(1669-1671)tcC>tcA	p.S557S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	557	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S557S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GACCGTAGTGGGAACTCTGGC	0.512																																						uc001ezs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1669-1671)TCC>TCA		repetin							676.0	602.0	624.0					1																	152127904		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127904G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1671C>A	1.37:g.152127904G>T							p.S557S	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1736	-			557			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1671C>A	CCDS41397.1																																																																																				PASS	0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		11	323	11	323	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128930	152128930	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:152128930G>T	ENST00000316073.3	-	3	709	c.645C>A	c.(643-645)acC>acA	p.T215T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	215	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.T215T(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTGGCCACTGGTAGATTTGT	0.418																																						uc001ezs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(643-645)ACC>ACA		repetin							242.0	208.0	219.0					1																	152128930		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128930G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.645C>A	1.37:g.152128930G>T							p.T215T	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	710	-			215			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.645C>A	CCDS41397.1																																																																																				PASS	0.418	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	167	8	167	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187072	152187072	+	Nonsense_Mutation	SNP	C	C	A	rs529321644		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:152187072C>A	ENST00000368801.2	-	3	7108	c.7033G>T	c.(7033-7035)Gag>Tag	p.E2345*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2345					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E2345K(1)|p.E2345*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGACTCGTGGTGACCA	0.567																																						uc001ezt.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)	skin(2)|ovary(1)	3						c.(7033-7035)GAG>TAG		hornerin							460.0	722.0	634.0					1																	152187072		2184	4297	6481	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187072C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7033G>T	1.37:g.152187072C>A	ENSP00000357791:p.Glu2345*						p.E2345*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7109	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2345			25.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.7033G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	45	11.408499	0.99557	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.18	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	8.4761	0.33014	0.0:0.8776:0.0:0.1224	.	.	.	.	X	2345	.	ENSP00000357791:E2345X	E	-	1	0	HRNR	150453696	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.315000	0.08081	0.909000	0.36697	0.650000	0.86243	GAG		PASS	0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		12	484	12	484	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276039	152276039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:152276039C>A	ENST00000368799.1	-	3	11358	c.11323G>T	c.(11323-11325)Gag>Tag	p.E3775*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3775	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.E3775*(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)			ACCGATTGCTCGTGGTAGGAT	0.597									Ichthyosis																													uc001ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11323-11325)GAG>TAG		filaggrin							378.0	365.0	369.0					1																	152276039		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152276039C>A	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.11323G>T	1.37:g.152276039C>A	ENSP00000357789:p.Glu3775*						p.E3775*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11359	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3775			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.11323G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	50	16.579672	0.99867	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.69	-0.739	0.11120	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.534	4.9685	0.14103	0.0:0.4467:0.419:0.1343	.	.	.	.	X	3775	.	ENSP00000357789:E3775X	E	-	1	0	FLG	150542663	0.000000	0.05858	0.009000	0.14445	0.014000	0.08584	-2.575000	0.00910	-0.131000	0.11578	0.552000	0.68991	GAG		PASS	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	173	7	173	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281424	152281424	+	Missense_Mutation	SNP	G	G	T	rs146743261		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:152281424G>T	ENST00000368799.1	-	3	5973	c.5938C>A	c.(5938-5940)Cgt>Agt	p.R1980S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1980	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.R1980S(2)		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)			TCTGTGTGACGAGTGCCTGAT	0.572									Ichthyosis																													uc001ezu.1																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5938-5940)CGT>AGT		filaggrin							498.0	406.0	437.0					1																	152281424		2203	4300	6503	SO:0001583	missense	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.chr1:152281424G>T	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.5938C>A	1.37:g.152281424G>T	ENSP00000357789:p.Arg1980Ser						p.R1980S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5974	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1980			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5938C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	6.295	0.422581	0.11928	.	.	ENSG00000143631	ENST00000368799	T	0.00902	5.56	2.36	1.26	0.21427	.	.	.	.	.	T	0.00328	0.0010	L	0.48362	1.52	0.09310	N	1	B	0.21606	0.058	B	0.23419	0.046	T	0.42666	-0.9438	9	0.08599	T	0.76	-0.279	6.2444	0.20810	0.0:0.3188:0.6812:0.0	.	1980	P20930	FILA_HUMAN	S	1980	ENSP00000357789:R1980S	ENSP00000357789:R1980S	R	-	1	0	FLG	150548048	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.089000	0.15002	1.320000	0.45209	0.461000	0.40582	CGT		PASS	0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	353	9	353	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154110594	154110594	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:154110594C>T	ENST00000368559.3	-	6	909	c.838G>A	c.(838-840)Ggg>Agg	p.G280R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G280R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	280					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.G280R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTCACTCTCCCTTGAACCATT	0.338																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(838-840)GGG>AGG		nucleoporin 210kDa-like isoform 1							99.0	96.0	97.0					1																	154110594		1820	4086	5906	SO:0001583	missense	91181					integral to membrane		g.chr1:154110594C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.838G>A	1.37:g.154110594C>T	ENSP00000357547:p.Gly280Arg					NUP210L_uc009woq.2_5'Flank|NUP210L_uc010peh.1_Missense_Mutation_p.G280R	p.G280R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		6	910	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		280					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.838G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300197	0.81136	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05382	3.45;3.45	5.02	5.02	0.67125	.	0.000000	0.56097	D	0.000025	T	0.15089	0.0364	L	0.60845	1.875	0.44395	D	0.997305	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00335	-1.1808	10	0.66056	D	0.02	-0.2363	16.28	0.82672	0.0:1.0:0.0:0.0	.	280;280	E7EP56;Q5VU65	.;P210L_HUMAN	R	280	ENSP00000357547:G280R;ENSP00000271854:G280R	ENSP00000271854:G280R	G	-	1	0	NUP210L	152377218	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.382000	0.66213	2.607000	0.88179	0.585000	0.79938	GGG		PASS	0.338	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		19	93	19	93	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449247	155449247	+	Silent	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:155449247T>C	ENST00000368346.3	-	3	4053	c.3414A>G	c.(3412-3414)ttA>ttG	p.L1138L	ASH1L_ENST00000392403.3_Silent_p.L1138L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1138					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.L1138L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTCTGGAGTGTAAATGCAAAT	0.473																																						uc009wqq.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3412-3414)TTA>TTG		absent, small, or homeotic 1-like							92.0	85.0	87.0					1																	155449247		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449247T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3414A>G	1.37:g.155449247T>C						ASH1L_uc001fkt.2_Silent_p.L1138L|ASH1L_uc009wqr.1_Silent_p.L1138L	p.L1138L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3894	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1138					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.3414A>G																																																																																					PASS	0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		18	39	18	39	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156261304	156261304	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:156261304G>A	ENST00000405535.2	+	4	1271	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	TMEM79_ENST00000357501.2_Silent_p.A128A|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000482579.1_5'Flank|TMEM79_ENST00000295694.5_Missense_Mutation_p.R367H	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	367					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.R367H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAGCCGGAGCGCATGCTCACT	0.677																																						uc010phi.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1099-1101)CGC>CAC		transmembrane protein 79							109.0	105.0	107.0					1																	156261304		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156261304G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1100G>A	1.37:g.156261304G>A	ENSP00000384748:p.Arg367His					TMEM79_uc001fod.2_Missense_Mutation_p.R208H|TMEM79_uc009wrw.2_Missense_Mutation_p.R367H|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron	p.R367H	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			4	1296	+	Hepatocellular(266;0.158)		367					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.1100G>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448776	0.63178	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.50548	0.74;0.74	5.7	5.7	0.88788	.	0.333979	0.33199	N	0.005164	T	0.46889	0.1416	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.44802	-0.9304	10	0.46703	T	0.11	-0.8979	12.7509	0.57308	0.0792:0.0:0.9208:0.0	.	367	Q9BSE2	TMM79_HUMAN	H	367	ENSP00000295694:R367H;ENSP00000384748:R367H	ENSP00000295694:R367H	R	+	2	0	TMEM79	154527928	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.312000	0.65792	2.687000	0.91594	0.655000	0.94253	CGC		PASS	0.677	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		8	68	8	68	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156532415	156532415	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:156532415G>T	ENST00000361170.2	-	9	851	c.841C>A	c.(841-843)Cag>Aag	p.Q281K		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	281					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.Q281K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTCAGCCTGAGTTAGGTAG	0.507																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(841-843)CAG>AAG		IQ motif containing GTPase activating protein 3							276.0	235.0	249.0					1																	156532415		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156532415G>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.841C>A	1.37:g.156532415G>T	ENSP00000354451:p.Gln281Lys					IQGAP3_uc009wsb.1_Missense_Mutation_p.Q238K	p.Q281K	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			9	916	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		281					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.841C>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013959	0.93404	.	.	ENSG00000183856	ENST00000361170	T	0.06218	3.33	5.77	5.77	0.91146	.	0.205017	0.43260	D	0.000589	T	0.22589	0.0545	M	0.85710	2.77	0.52501	D	0.999955	D	0.69078	0.997	D	0.73380	0.98	T	0.00533	-1.1685	10	0.45353	T	0.12	-23.6303	18.9245	0.92538	0.0:0.0:1.0:0.0	.	281	Q86VI3	IQGA3_HUMAN	K	281	ENSP00000354451:Q281K	ENSP00000354451:Q281K	Q	-	1	0	IQGAP3	154799039	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.598000	0.98277	2.884000	0.98904	0.655000	0.94253	CAG		PASS	0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		8	145	8	145	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157666025	157666025	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:157666025G>C	ENST00000368184.3	-	7	1228	c.937C>G	c.(937-939)Cag>Gag	p.Q313E	FCRL3_ENST00000368186.5_Missense_Mutation_p.Q313E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	313	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q313E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGAACCCTGGGCTACTGAG	0.522																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(937-939)CAG>GAG		Fc receptor-like 3 precursor							132.0	123.0	126.0					1																	157666025		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666025G>C	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.937C>G	1.37:g.157666025G>C	ENSP00000357167:p.Gln313Glu					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q313E|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.Q39E|FCRL3_uc001frc.1_Missense_Mutation_p.Q313E	p.Q313E	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			7	1229	-	all_hematologic(112;0.0378)		313			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.937C>G	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	0.847	-0.740002	0.03088	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12039	2.72;2.72	5.21	-2.42	0.06542	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.572440	0.03841	N	0.270592	T	0.01156	0.0038	N	0.01424	-0.875	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.009	B;B;B	0.28385	0.03;0.089;0.018	T	0.42982	-0.9419	10	0.08599	T	0.76	.	5.8003	0.18410	0.0:0.2278:0.5068:0.2654	.	313;218;313	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	313	ENSP00000357169:Q313E;ENSP00000357167:Q313E	ENSP00000292392:Q313E	Q	-	1	0	FCRL3	155932649	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.408000	0.07169	-0.009000	0.14296	-0.262000	0.10625	CAG		PASS	0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		17	71	17	71	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158300625	158300625	+	Silent	SNP	G	G	T	rs142860948		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:158300625G>T	ENST00000368168.3	-	2	396	c.289C>A	c.(289-291)Cga>Aga	p.R97R		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	97					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.R97R(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGTACTTCTCGAGCGAATCCA	0.438																																						uc001frx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(289-291)CGA>AGA		CD1B antigen precursor		G		1,4405	2.1+/-5.4	0,1,2202	238.0	241.0	240.0		289	-8.6	0.0	1	dbSNP_134	240	0,8600		0,0,4300	no	coding-synonymous	CD1B	NM_001764.2		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		97/334	158300625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300625G>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.289C>A	1.37:g.158300625G>T						CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Silent_p.R97R	p.R97R	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	397	-	all_hematologic(112;0.0378)		97			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.289C>A	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	3.602	-0.081394	0.07141	2.27E-4	0.0	ENSG00000158485	ENST00000451207	.	.	.	4.28	-8.56	0.00904	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3599	4.546	0.12081	0.0739:0.275:0.1506:0.5006	.	.	.	.	X	64	.	.	S	-	2	0	CD1B	156567249	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.717000	0.04986	-1.903000	0.01093	-1.795000	0.00624	TCG		PASS	0.438	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		9	255	9	255	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158585059	158585059	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:158585059G>T	ENST00000368147.4	-	48	6915	c.6735C>A	c.(6733-6735)ctC>ctA	p.L2245L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2245					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.L2245L(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)					CAAGCTGGTAGAGCTGGTCCC	0.532																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6733-6735)CTC>CTA		spectrin, alpha, erythrocytic 1							158.0	165.0	162.0					1																	158585059		2120	4244	6364	SO:0001819	synonymous_variant	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.chr1:158585059G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6735C>A	1.37:g.158585059G>T							p.L2245L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			48	6934	-	all_hematologic(112;0.0378)		2245			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6735C>A	CCDS41423.1																																																																																				PASS	0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	125	8	125	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158624456	158624456	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:158624456C>A	ENST00000368147.4	-	21	3161	c.2981G>T	c.(2980-2982)cGa>cTa	p.R994L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	994	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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.R994L(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)					GGTGACTTCTCGGGGGCTGCG	0.468																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2980-2982)CGA>CTA		spectrin, alpha, erythrocytic 1							83.0	83.0	83.0					1																	158624456		1933	4133	6066	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.chr1:158624456C>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.2981G>T	1.37:g.158624456C>A	ENSP00000357129:p.Arg994Leu						p.R994L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			21	3180	-	all_hematologic(112;0.0378)		994			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2981G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083840	0.76642	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.30981	1.51;1.51	5.22	3.31	0.37934	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.000000	0.28933	N	0.013668	T	0.31451	0.0797	L	0.47016	1.485	0.45046	D	0.998065	D	0.69078	0.997	D	0.69479	0.964	T	0.06862	-1.0803	10	0.52906	T	0.07	.	9.9125	0.41415	0.0:0.8279:0.0:0.1721	.	994	P02549	SPTA1_HUMAN	L	994	ENSP00000357130:R994L;ENSP00000357129:R994L	ENSP00000357129:R994L	R	-	2	0	SPTA1	156891080	1.000000	0.71417	0.773000	0.31616	0.963000	0.63663	3.318000	0.51975	0.752000	0.32923	0.591000	0.81541	CGA		PASS	0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		5	62	5	62	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159275863	159275863	+	Silent	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:159275863T>C	ENST00000368115.1	+	5	516	c.417T>C	c.(415-417)gaT>gaC	p.D139D	FCER1A_ENST00000368114.1_Silent_p.D106D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	139	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.D139D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GGAACTGGGATGTGTACAAGG	0.493																																						uc001ftq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(415-417)GAT>GAC		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						147.0	132.0	137.0					1																	159275863		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159275863T>C	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.417T>C	1.37:g.159275863T>C							p.D139D	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	516	+	all_hematologic(112;0.0429)		139			Ig-like 2.|Extracellular (Potential).			Silent	SNP	ENST00000368115.1	37	c.417T>C	CCDS1184.1																																																																																				PASS	0.493	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		5	39	5	39	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160129229	160129229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:160129229G>T	ENST00000368081.4	+	6	1162	c.691G>T	c.(691-693)Gaa>Taa	p.E231*		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	231					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.E231*(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGAGTCAGAACCCCAGAG	0.498																																						uc001fve.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(691-693)GAA>TAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							86.0	89.0	88.0					1																	160129229		2203	4300	6503	SO:0001587	stop_gained	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160129229G>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.691G>T	1.37:g.160129229G>T	ENSP00000357060:p.Glu231*					ATP1A4_uc001fvf.3_RNA	p.E231*	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	1170	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		231			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Nonsense_Mutation	SNP	ENST00000368081.4	37	c.691G>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	41	8.655852	0.98903	.	.	ENSG00000132681	ENST00000368081	.	.	.	5.01	4.1	0.47936	.	0.103048	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.519	0.50541	0.0879:0.0:0.9121:0.0	.	.	.	.	X	231	.	ENSP00000357060:E231X	E	+	1	0	ATP1A4	158395853	1.000000	0.71417	0.999000	0.59377	0.615000	0.37417	7.962000	0.87912	1.237000	0.43756	0.561000	0.74099	GAA		PASS	0.498	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		6	59	6	59	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167382310	167382310	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:167382310G>A	ENST00000541643.3	+	16	2042	c.1880G>A	c.(1879-1881)aGc>aAc	p.S627N	POU2F1_ENST00000429375.2_Missense_Mutation_p.S587N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S627N|POU2F1_ENST00000367862.5_Missense_Mutation_p.S639N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S650N|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	627					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S627N(1)|p.S650N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGTGCTCTCAGCCCAGCTCTA	0.488																																						uc001gec.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|breast(1)	5						c.(1879-1881)AGC>AAC		POU class 2 homeobox 1							136.0	134.0	135.0					1																	167382310		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167382310G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1880G>A	1.37:g.167382310G>A	ENSP00000441285:p.Ser627Asn					POU2F1_uc001ged.2_Missense_Mutation_p.S625N|POU2F1_uc001gee.2_Missense_Mutation_p.S627N|POU2F1_uc010plh.1_Missense_Mutation_p.S564N|POU2F1_uc001gef.2_Missense_Mutation_p.S639N|POU2F1_uc001geg.2_Missense_Mutation_p.S525N	p.S627N	NM_002697	NP_002688	P14859	PO2F1_HUMAN			16	2042	+			627					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1880G>A		.	.	.	.	.	.	.	.	.	.	G	29.2	4.987184	0.93106	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.89343	-2.43;-2.36;-2.41;-2.5;-2.4;-2.44;-2.31	5.8	5.8	0.92144	.	0.264086	0.47093	D	0.000244	D	0.89781	0.6814	L	0.29908	0.895	0.44635	D	0.997613	P;D;D;P;D	0.57899	0.477;0.981;0.981;0.611;0.967	B;D;D;P;P	0.66351	0.444;0.916;0.943;0.647;0.878	D	0.89649	0.3868	9	0.49607	T	0.09	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	587;627;639;625;627	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	N	650;587;625;627;627;639;535	ENSP00000356840:S650N;ENSP00000401217:S587N;ENSP00000356839:S625N;ENSP00000414660:S627N;ENSP00000441285:S627N;ENSP00000356836:S639N;ENSP00000415993:S535N	ENSP00000356836:S639N	S	+	2	0	POU2F1	165648934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.291000	0.96070	2.732000	0.93576	0.650000	0.86243	AGC		PASS	0.488	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		24	104	24	104	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510709	169510709	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:169510709C>A	ENST00000367797.3	-	13	3820	c.3619G>T	c.(3619-3621)Gac>Tac	p.D1207Y	F5_ENST00000367796.3_Missense_Mutation_p.D1212Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1207	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.D1207Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGCTGAGGTCTGGAGAGAGG	0.547																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3619-3621)GAC>TAC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						193.0	208.0	203.0					1																	169510709		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510709C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3619G>T	1.37:g.169510709C>A	ENSP00000356771:p.Asp1207Tyr						p.D1207Y	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3764	-	all_hematologic(923;0.208)		1207			B.|2-3.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3619G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673349	0.47781	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.38401	1.14;1.14	4.43	3.49	0.39957	.	1.170700	0.06477	U	0.732129	T	0.37571	0.1008	L	0.57536	1.79	0.24123	N	0.995796	D	0.71674	0.998	P	0.60173	0.87	T	0.17410	-1.0370	9	0.62326	D	0.03	-3.6055	6.778	0.23630	0.0:0.7116:0.1839:0.1045	.	1207	P12259	FA5_HUMAN	Y	1207;1212	ENSP00000356771:D1207Y;ENSP00000356770:D1212Y	ENSP00000356770:D1212Y	D	-	1	0	F5	167777333	0.778000	0.28640	0.604000	0.28916	0.019000	0.09904	2.313000	0.43735	2.169000	0.68431	0.407000	0.27541	GAC		PASS	0.547	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	179	9	179	---	---	---	---
F5	2153	broad.mit.edu	37	1	169529939	169529939	+	Missense_Mutation	SNP	C	C	T	rs118203912		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:169529939C>T	ENST00000367797.3	-	4	640	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	F5_ENST00000367796.3_Missense_Mutation_p.E147K|F5_ENST00000546081.1_Missense_Mutation_p.E10K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.E147K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TAGGTGTATTCTCGGCCTGGA	0.517																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	GRCh37	CM032567	F5	M	rs118203912	c.(439-441)GAA>AAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						185.0	156.0	166.0					1																	169529939		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529939C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.439G>A	1.37:g.169529939C>T	ENSP00000356771:p.Glu147Lys					F5_uc010plr.1_RNA	p.E147K	NM_000130	NP_000121	P12259	FA5_HUMAN			4	584	-	all_hematologic(923;0.208)		147			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.439G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404046	0.42613	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98345	-4.88;-4.88;-4.88	5.39	3.36	0.38483	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.664601	0.15758	N	0.246068	D	0.91643	0.7359	L	0.31578	0.945	0.36917	D	0.891173	P	0.37708	0.606	B	0.37198	0.243	D	0.87576	0.2481	9	0.29301	T	0.29	-22.9765	6.1143	0.20117	0.0:0.5369:0.2609:0.2022	.	147	P12259	FA5_HUMAN	K	147;147;10	ENSP00000356771:E147K;ENSP00000356770:E147K;ENSP00000439664:E10K	ENSP00000356770:E147K	E	-	1	0	F5	167796563	0.252000	0.23972	0.323000	0.25347	0.525000	0.34531	1.257000	0.32932	2.508000	0.84585	0.585000	0.79938	GAA		PASS	0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		17	80	17	80	---	---	---	---
DARS2	55157	broad.mit.edu	37	1	173800688	173800688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:173800688G>T	ENST00000361951.4	+	5	1139	c.412G>T	c.(412-414)Gag>Tag	p.E138*	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	138					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.E138*(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GCCAACAGGTGAGATTGAAAT	0.353																																						uc001gjh.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(412-414)GAG>TAG		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						146.0	168.0	160.0					1																	173800688		2203	4300	6503	SO:0001587	stop_gained	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173800688G>T	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.412G>T	1.37:g.173800688G>T	ENSP00000355086:p.Glu138*						p.E138*	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			5	822	+			138						Nonsense_Mutation	SNP	ENST00000361951.4	37	c.412G>T	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	44	11.221575	0.99533	.	.	ENSG00000117593	ENST00000361951	.	.	.	6.07	6.07	0.98685	.	0.147364	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.4751	19.4308	0.94765	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000355086:E138X	E	+	1	0	DARS2	172067311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.584000	0.82572	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.353	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		11	311	11	311	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173930278	173930278	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:173930278C>A	ENST00000367696.2	-	13	2658	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N	RC3H1_ENST00000258349.4_Missense_Mutation_p.K769N|RC3H1_ENST00000367694.2_Missense_Mutation_p.K769N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	769	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K769N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAGAGATAACCTTTCTTTCCT	0.468																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2305-2307)AAG>AAT		roquin							229.0	213.0	219.0					1																	173930278		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173930278C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2307G>T	1.37:g.173930278C>A	ENSP00000356669:p.Lys769Asn					RC3H1_uc010pms.1_Missense_Mutation_p.K769N|RC3H1_uc001gjv.2_Missense_Mutation_p.K769N|RC3H1_uc010pmt.1_Missense_Mutation_p.K769N	p.K769N	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			12	2394	-			769			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2307G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604425	0.46423	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.52295	0.68;0.68;0.67	5.65	1.08	0.20341	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.55481	1.735	0.46185	D	0.998916	B;B;B;B	0.19583	0.022;0.022;0.037;0.022	B;B;B;B	0.16722	0.007;0.007;0.016;0.007	T	0.16600	-1.0397	10	0.54805	T	0.06	-7.3108	10.5533	0.45101	0.0:0.5845:0.0:0.4155	.	769;769;769;769	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	N	769	ENSP00000356669:K769N;ENSP00000258349:K769N;ENSP00000356667:K769N	ENSP00000258349:K769N	K	-	3	2	RC3H1	172196901	0.884000	0.30299	1.000000	0.80357	0.997000	0.91878	0.019000	0.13444	0.315000	0.23110	0.655000	0.94253	AAG		PASS	0.468	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		7	115	7	115	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417805	174417805	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:174417805C>A	ENST00000367685.2	+	1	594	c.556C>A	c.(556-558)Cat>Aat	p.H186N	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	186					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.H186N(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACCTGGTTACCATGGTGACAT	0.438																																					Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(556-558)CAT>AAT		G protein-coupled receptor 52							255.0	235.0	242.0					1																	174417805		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417805C>A	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.556C>A	1.37:g.174417805C>A	ENSP00000356658:p.His186Asn					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	p.H186N	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	594	+			186			Extracellular (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.556C>A	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640527	0.47153	.	.	ENSG00000203737	ENST00000367685	T	0.70516	-0.49	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.67850	0.2937	L	0.43701	1.375	0.45108	D	0.998123	P	0.36086	0.536	B	0.38712	0.28	T	0.62492	-0.6843	10	0.23302	T	0.38	-13.9519	20.2789	0.98501	0.0:1.0:0.0:0.0	.	186	Q9Y2T5	GPR52_HUMAN	N	186	ENSP00000356658:H186N	ENSP00000356658:H186N	H	+	1	0	GPR52	172684428	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.425000	0.80255	2.788000	0.95919	0.650000	0.86243	CAT		PASS	0.438	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		8	184	8	184	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175087722	175087722	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:175087722C>A	ENST00000239462.4	+	11	2525	c.2412C>A	c.(2410-2412)gtC>gtA	p.V804V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	804	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.V804V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAAACCTGGTCACTGACTGGG	0.512																																						uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2410-2412)GTC>GTA		tenascin N precursor							53.0	59.0	57.0					1																	175087722		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175087722C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2412C>A	1.37:g.175087722C>A							p.V804V	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	11	2525	+		Breast(1374;0.000962)	804			Fibronectin type-III 7.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2412C>A	CCDS30943.1																																																																																				PASS	0.512	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		11	52	11	52	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183103915	183103915	+	Missense_Mutation	SNP	C	C	A	rs528528648		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:183103915C>A	ENST00000258341.4	+	23	4227	c.3970C>A	c.(3970-3972)Ctt>Att	p.L1324I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1324	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.L1324I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGTCAAGAACCTTCTGGAGAA	0.423																																						uc001gpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(3970-3972)CTT>ATT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	130.0	126.0					1																	183103915		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183103915C>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3970C>A	1.37:g.183103915C>A	ENSP00000258341:p.Leu1324Ile						p.L1324I	NM_002293	NP_002284	P11047	LAMC1_HUMAN			23	4227	+			1324			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3970C>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612904	0.66672	.	.	ENSG00000135862	ENST00000258341	T	0.80566	-1.39	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.82029	0.4948	M	0.78637	2.42	0.80722	D	1	P	0.48294	0.908	B	0.40134	0.32	D	0.84299	0.0504	10	0.49607	T	0.09	.	19.2885	0.94089	0.0:1.0:0.0:0.0	.	1324	P11047	LAMC1_HUMAN	I	1324	ENSP00000258341:L1324I	ENSP00000258341:L1324I	L	+	1	0	LAMC1	181370538	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	5.467000	0.66737	2.651000	0.90000	0.655000	0.94253	CTT		PASS	0.423	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		12	251	12	251	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183177132	183177132	+	Nonsense_Mutation	SNP	G	G	T	rs146325169	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:183177132G>T	ENST00000264144.4	+	2	261	c.196G>T	c.(196-198)Gag>Tag	p.E66*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.E66*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	66	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.E66*(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CATTCACTGCGAGAAGTGCAA	0.488																																						uc001gqa.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(196-198)GAG>TAG		laminin, gamma 2 isoform a precursor							282.0	271.0	275.0					1																	183177132		2203	4300	6503	SO:0001587	stop_gained	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177132G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.196G>T	1.37:g.183177132G>T	ENSP00000264144:p.Glu66*					LAMC2_uc001gpz.3_Nonsense_Mutation_p.E66*|LAMC2_uc010poa.1_5'UTR	p.E66*	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			2	510	+			66			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP	ENST00000264144.4	37	c.196G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404720	0.83230	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	4.81	3.89	0.44902	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.87	0.70450	0.0:0.1442:0.8558:0.0	.	.	.	.	X	66	.	ENSP00000264144:E66X	E	+	1	0	LAMC2	181443755	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	7.351000	0.79395	1.011000	0.39340	0.591000	0.81541	GAG		PASS	0.488	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		7	207	7	207	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186327695	186327695	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:186327695C>A	ENST00000367478.4	-	13	1773	c.1477G>T	c.(1477-1479)Gta>Tta	p.V493L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	493	Necessary for association to the NPC.				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.V493L(1)|p.V494L(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)		AGATCTTTTACTTGTATTTCC	0.343			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.(1477-1479)GTA>TTA		nuclear pore complex-associated protein TPR							183.0	170.0	174.0					1																	186327695		1857	4088	5945	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.chr1:186327695C>A	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.1477G>T	1.37:g.186327695C>A	ENSP00000356448:p.Val493Leu					TPR_uc010pop.1_Missense_Mutation_p.V569L	p.V493L	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	13	1774	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	493			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1477G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	4.201	0.036061	0.08148	.	.	ENSG00000047410	ENST00000367478	T	0.00949	5.51	5.25	-1.29	0.09288	.	0.482208	0.23420	N	0.048370	T	0.00412	0.0013	N	0.01091	-1.02	0.26493	N	0.974903	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45352	-0.9267	10	0.14656	T	0.56	.	10.6578	0.45686	0.0:0.6097:0.0:0.3903	.	493;493	Q15624;P12270	.;TPR_HUMAN	L	493	ENSP00000356448:V493L	ENSP00000356448:V493L	V	-	1	0	TPR	184594318	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	0.853000	0.27777	-0.181000	0.10619	-0.294000	0.09567	GTA		PASS	0.343	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	107	6	107	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186880486	186880486	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:186880486C>T	ENST00000367466.3	+	7	675	c.523C>T	c.(523-525)Cca>Tca	p.P175S	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	175	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.P175S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ACTCTTGGGTCCAAAGAATAG	0.388																																						uc001gsc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(523-525)CCA>TCA		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						126.0	129.0	128.0					1																	186880486		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186880486C>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.523C>T	1.37:g.186880486C>T	ENSP00000356436:p.Pro175Ser					PLA2G4A_uc010pos.1_Intron	p.P175S	NM_024420	NP_077734	P47712	PA24A_HUMAN			7	728	+			175			Phospholipid binding (Probable).|PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.523C>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140638	0.21205	.	.	ENSG00000116711	ENST00000367466	T	0.04083	3.71	4.94	3.99	0.46301	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.303041	0.40469	N	0.001097	T	0.03695	0.0105	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41574	-0.9501	10	0.12430	T	0.62	-6.4515	12.3067	0.54906	0.1709:0.8291:0.0:0.0	.	175	P47712	PA24A_HUMAN	S	175	ENSP00000356436:P175S	ENSP00000356436:P175S	P	+	1	0	PLA2G4A	185147109	0.659000	0.27411	0.994000	0.49952	0.903000	0.53119	1.309000	0.33539	1.126000	0.42016	0.650000	0.86243	CCA		PASS	0.388	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		17	75	17	75	---	---	---	---
RGS1	5996	broad.mit.edu	37	1	192547369	192547369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:192547369G>T	ENST00000367459.3	+	4	364	c.298G>T	c.(298-300)Gga>Tga	p.G100*	RGS1_ENST00000469578.2_Nonsense_Mutation_p.G100*	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	100	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.G87*(1)|p.G100*(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AAATGTCTTTGGAAGTTTCCT	0.363																																						uc001gsi.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(298-300)GGA>TGA		regulator of G-protein signalling 1							142.0	151.0	148.0					1																	192547369		2203	4300	6503	SO:0001587	stop_gained	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192547369G>T	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.298G>T	1.37:g.192547369G>T	ENSP00000356429:p.Gly100*					RGS1_uc010pou.1_Nonsense_Mutation_p.G100*	p.G100*	NM_002922	NP_002913	Q08116	RGS1_HUMAN			4	364	+		Breast(1374;0.188)	100			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Nonsense_Mutation	SNP	ENST00000367459.3	37	c.298G>T	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383078	0.82792	.	.	ENSG00000090104	ENST00000367459	.	.	.	5.91	4.05	0.47172	.	0.244385	0.35870	N	0.002937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7643	0.13125	0.2371:0.1606:0.6024:0.0	.	.	.	.	X	100	.	ENSP00000356429:G100X	G	+	1	0	RGS1	190813992	0.998000	0.40836	0.996000	0.52242	0.733000	0.41908	2.960000	0.49161	1.516000	0.48900	0.650000	0.86243	GGA		PASS	0.363	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		8	182	8	182	---	---	---	---
RGS13	6003	broad.mit.edu	37	1	192613497	192613497	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:192613497G>T	ENST00000391995.2	+	4	321	c.33G>T	c.(31-33)atG>atT	p.M11I	RGS13_ENST00000543215.1_Missense_Mutation_p.M11I	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	11					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.M11I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						TTTGTAAGATGTGCAGAGATG	0.294																																						uc001gsj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)ATG>ATT		regulator of G-protein signalling 13							132.0	146.0	141.0					1																	192613497		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192613497G>T	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.33G>T	1.37:g.192613497G>T	ENSP00000375853:p.Met11Ile					RGS13_uc001gsk.2_Missense_Mutation_p.M11I	p.M11I	NM_002927	NP_002918	O14921	RGS13_HUMAN			4	314	+			11					Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.33G>T	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412209	0.01145	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.40756	1.02;1.02	5.62	-0.826	0.10805	.	1.532230	0.03238	N	0.179959	T	0.26955	0.0660	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09997	-1.0649	10	0.20519	T	0.43	.	4.9696	0.14108	0.4148:0.0:0.4465:0.1387	.	11	O14921	RGS13_HUMAN	I	11	ENSP00000375853:M11I;ENSP00000442837:M11I	ENSP00000375853:M11I	M	+	3	0	RGS13	190880120	0.016000	0.18221	0.143000	0.22291	0.011000	0.07611	-0.022000	0.12480	-0.090000	0.12462	-0.136000	0.14681	ATG		PASS	0.294	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		9	301	9	301	---	---	---	---
UCHL5	51377	broad.mit.edu	37	1	192993077	192993077	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:192993077C>A	ENST00000367455.4	-	8	865		c.e8-1		UCHL5_ENST00000367451.4_Splice_Site|UCHL5_ENST00000367448.1_Splice_Site|UCHL5_ENST00000367449.1_Splice_Site|UCHL5_ENST00000367452.4_Splice_Site|UCHL5_ENST00000530098.2_Splice_Site|UCHL5_ENST00000367454.1_Splice_Site	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTCACTGTACCTAGAAGAAAA	0.303																																						uc001gsm.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)	3						c.e8-1		ubiquitin carboxyl-terminal hydrolase L5							68.0	70.0	69.0					1																	192993077		2202	4298	6500	SO:0001630	splice_region_variant	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:192993077C>A		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.630-1G>T	1.37:g.192993077C>A						UCHL5_uc001gsn.2_Splice_Site|UCHL5_uc001gso.2_Splice_Site_p.K210_splice|UCHL5_uc010pov.1_Splice_Site|UCHL5_uc001gsp.2_Splice_Site_p.K210_splice|UCHL5_uc001gsq.2_Splice_Site_p.K210_splice|UCHL5_uc010pow.1_Splice_Site_p.K86_splice|UCHL5_uc010pox.1_Splice_Site_p.K86_splice	p.K210_splice	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			8	761	-								Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Splice_Site	SNP	ENST00000367455.4	37	c.630_splice	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860595	0.71834	.	.	ENSG00000116750	ENST00000420791;ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000443327;ENST00000367452;ENST00000530098;ENST00000391991;ENST00000421683	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7965	0.91995	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UCHL5	191259700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.510000	0.84645	0.650000	0.86243	.		PASS	0.303	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984	Intron	6	61	6	61	---	---	---	---
FAM58BP	339521	broad.mit.edu	37	1	200182884	200182884	+	IGR	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:200182884G>T								NR5A2 (36332 upstream) : RP11-532L16.3 (101678 downstream)																							GTTCTTCTGCGAGACCATCCT	0.537																																						uc009wzi.1																			0					0						c.(193-195)GAG>TAG		family with sequence similarity 58 member B							188.0	178.0	181.0					1																	200182884		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200182884G>T																													1.37:g.200182884G>T							p.E65*	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	229	+	Prostate(682;0.19)		65						Nonsense_Mutation	SNP		37	c.193G>T																																																																																				0	PASS	0.537									7	97	7	97	---	---	---	---
ZNF281	23528	broad.mit.edu	37	1	200377843	200377843	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:200377843G>T	ENST00000294740.3	-	2	1115	c.991C>A	c.(991-993)Cat>Aat	p.H331N	ZNF281_ENST00000367353.1_Missense_Mutation_p.H331N|ZNF281_ENST00000367352.3_Missense_Mutation_p.H295N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	331					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.H331N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCTCCATATGGTACTTCTGA	0.383																																						uc001gve.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(991-993)CAT>AAT		zinc finger protein 281							201.0	211.0	207.0					1																	200377843		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377843G>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.991C>A	1.37:g.200377843G>T	ENSP00000294740:p.His331Asn					ZNF281_uc001gvf.1_Missense_Mutation_p.H331N|ZNF281_uc001gvg.1_Missense_Mutation_p.H295N	p.H331N	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1098	-			331			C2H2-type 3.		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.991C>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934091	0.73442	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.60040	0.22;0.22;0.22	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	N	0.03903	-0.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.69250	-0.5194	10	0.49607	T	0.09	-1.8216	19.9857	0.97347	0.0:0.0:1.0:0.0	.	295;331	A6NF48;Q9Y2X9	.;ZN281_HUMAN	N	331;331;295;36	ENSP00000294740:H331N;ENSP00000356322:H331N;ENSP00000356321:H295N	ENSP00000294740:H331N	H	-	1	0	ZNF281	198644466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.714000	0.98744	2.706000	0.92434	0.655000	0.94253	CAT		PASS	0.383	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		8	194	8	194	---	---	---	---
ZNF281	23528	broad.mit.edu	37	1	200378069	200378069	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:200378069G>T	ENST00000294740.3	-	2	889	c.765C>A	c.(763-765)tcC>tcA	p.S255S	ZNF281_ENST00000367353.1_Silent_p.S255S|ZNF281_ENST00000367352.3_Silent_p.S219S	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	255					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S255S(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TCTGACTTGGGGAGAGGATGG	0.483																																						uc001gve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(763-765)TCC>TCA		zinc finger protein 281							124.0	117.0	119.0					1																	200378069		2203	4300	6503	SO:0001819	synonymous_variant	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200378069G>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.765C>A	1.37:g.200378069G>T						uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Silent_p.S255S|ZNF281_uc001gvg.1_Silent_p.S219S	p.S255S	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	872	-			255					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	ENST00000294740.3	37	c.765C>A	CCDS1402.1																																																																																				PASS	0.483	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		6	86	6	86	---	---	---	---
RABIF	5877	broad.mit.edu	37	1	202850122	202850122	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:202850122C>A	ENST00000367262.3	-	2	392	c.356G>T	c.(355-357)cGa>cTa	p.R119L		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	119					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)	p.R119L(1)		large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGGGAAACTCGTTCCAAGGC	0.478																																						uc001gyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CGA>CTA		RAB-interacting factor							117.0	105.0	109.0					1																	202850122		2203	4300	6503	SO:0001583	missense	5877				cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:202850122C>A	S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.356G>T	1.37:g.202850122C>A	ENSP00000356231:p.Arg119Leu						p.R119L	NM_002871	NP_002862	P47224	MSS4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	393	-			119					B2R4P4|Q92992	Missense_Mutation	SNP	ENST00000367262.3	37	c.356G>T	CCDS1428.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006156	0.93287	.	.	ENSG00000183155	ENST00000367262	.	.	.	5.81	4.9	0.64082	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83648	0.0154	9	0.87932	D	0	-36.4433	14.4263	0.67218	0.0:0.9289:0.0:0.0711	.	119	P47224	MSS4_HUMAN	L	119	.	ENSP00000356231:R119L	R	-	2	0	RABIF	201116745	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.379000	0.79691	1.470000	0.48102	0.561000	0.74099	CGA		PASS	0.478	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1			6	59	6	59	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204948632	204948632	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:204948632G>T	ENST00000401399.1	+	18	2320	c.2121G>T	c.(2119-2121)gaG>gaT	p.E707D	NFASC_ENST00000404907.1_Missense_Mutation_p.E703D|NFASC_ENST00000338515.6_Missense_Mutation_p.E707D|NFASC_ENST00000513543.1_Missense_Mutation_p.E703D|NFASC_ENST00000367170.4_Missense_Mutation_p.E707D|NFASC_ENST00000367169.4_Missense_Mutation_p.E707D|NFASC_ENST00000360049.4_Missense_Mutation_p.E703D|NFASC_ENST00000539706.1_Missense_Mutation_p.E703D|NFASC_ENST00000339876.6_Missense_Mutation_p.E707D|NFASC_ENST00000367171.4_Missense_Mutation_p.E692D|NFASC_ENST00000404076.1_Missense_Mutation_p.E686D|NFASC_ENST00000338586.6_Missense_Mutation_p.E707D|NFASC_ENST00000367172.4_Missense_Mutation_p.E707D			O94856	NFASC_HUMAN	neurofascin	707	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.E703D(1)|p.E707D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCATCAACGAGGTTGGGAGCA	0.622																																						uc001hbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2119-2121)GAG>GAT		neurofascin isoform 1 precursor							99.0	101.0	100.0					1																	204948632		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948632G>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2121G>T	1.37:g.204948632G>T	ENSP00000385637:p.Glu707Asp					NFASC_uc010pra.1_Missense_Mutation_p.E703D|NFASC_uc001hbi.2_Missense_Mutation_p.E703D|NFASC_uc010prb.1_Missense_Mutation_p.E718D|NFASC_uc010prc.1_Missense_Mutation_p.E274D|NFASC_uc001hbk.1_Missense_Mutation_p.E513D|NFASC_uc001hbl.1_5'Flank	p.E707D	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		19	2449	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		707			Extracellular (Potential).|Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2121G>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.34|10.34	1.324404|1.324404	0.24080|0.24080	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43|.	5.24|5.24	3.15|3.15	0.36227|0.36227	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.245867|.	0.28317|.	N|.	0.015788|.	T|T	0.17238|0.17238	0.0414|0.0414	N|N	0.11870|0.11870	0.19|0.19	0.30502|0.30502	N|N	0.770283|0.770283	B;B;B;B;B;B|.	0.24186|.	0.024;0.0;0.006;0.005;0.099;0.006|.	B;B;B;B;B;B|.	0.22386|.	0.038;0.005;0.009;0.014;0.039;0.014|.	T|T	0.15235|0.15235	-1.0444|-1.0444	10|5	0.28530|.	T|.	0.3|.	.|.	2.2243|2.2243	0.03980|0.03980	0.2404:0.1262:0.4885:0.1448|0.2404:0.1262:0.4885:0.1448	.|.	707;718;703;692;707;703|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.|.	D|M	707;692;707;707;707;707;718;703;703;707;686;707;703;703;694|677	ENSP00000356140:E707D;ENSP00000356139:E692D;ENSP00000356138:E707D;ENSP00000342128:E707D;ENSP00000344786:E707D;ENSP00000343509:E707D;ENSP00000438614:E703D;ENSP00000353154:E703D;ENSP00000356137:E707D;ENSP00000385676:E686D;ENSP00000385637:E707D;ENSP00000384061:E703D;ENSP00000425908:E703D;ENSP00000415031:E694D|.	ENSP00000295776:E718D|.	E|R	+|+	3|2	2|0	NFASC|NFASC	203215255|203215255	0.749000|0.749000	0.28305|0.28305	0.999000|0.999000	0.59377|0.59377	0.786000|0.786000	0.44442|0.44442	-0.143000|-0.143000	0.10296|0.10296	1.211000|1.211000	0.43351|0.43351	0.655000|0.655000	0.94253|0.94253	GAG|AGG		PASS	0.622	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		7	64	7	64	---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205138464	205138464	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:205138464A>T	ENST00000367162.3	-	3	1181	c.1151T>A	c.(1150-1152)cTg>cAg	p.L384Q	DSTYK_ENST00000367161.3_Missense_Mutation_p.L384Q|DSTYK_ENST00000367160.4_Missense_Mutation_p.L384Q	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	384					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L384Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGTGATCTGCAGGTCCCGCTG	0.473																																						uc001hbw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1150-1152)CTG>CAG		receptor interacting protein kinase 5 isoform 1							108.0	96.0	100.0					1																	205138464		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138464A>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1151T>A	1.37:g.205138464A>T	ENSP00000356130:p.Leu384Gln					DSTYK_uc001hbx.2_Missense_Mutation_p.L384Q|DSTYK_uc001hby.1_Intron	p.L384Q	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			3	1215	-			384					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1151T>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555401	0.86231	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;D;D	0.82893	-1.46;-1.6;-1.66	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.70487	0.969;0.949	D	0.90538	0.4500	10	0.87932	D	0	-12.657	15.4674	0.75412	1.0:0.0:0.0:0.0	.	384;384	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	Q	384	ENSP00000356128:L384Q;ENSP00000356129:L384Q;ENSP00000356130:L384Q	ENSP00000356128:L384Q	L	-	2	0	DSTYK	203405087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.124000	0.65301	0.533000	0.62120	CTG		PASS	0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		6	43	6	43	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207639906	207639906	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:207639906G>T	ENST00000367058.3	+	2	283	c.94G>T	c.(94-96)Ggc>Tgc	p.G32C	CR2_ENST00000367059.3_Missense_Mutation_p.G32C|CR2_ENST00000458541.2_Missense_Mutation_p.G32C|CR2_ENST00000367057.3_Missense_Mutation_p.G32C	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	32	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G32C(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TATCCTAAATGGCCGGATTAG	0.418																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(94-96)GGC>TGC		complement component (3d/Epstein Barr virus)							124.0	130.0	128.0					1																	207639906		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207639906G>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.94G>T	1.37:g.207639906G>T	ENSP00000356025:p.Gly32Cys					CR2_uc001hfv.2_Missense_Mutation_p.G32C|CR2_uc009xch.2_Missense_Mutation_p.G32C	p.G32C	NM_001877	NP_001868	P20023	CR2_HUMAN			2	188	+			32			Sushi 1.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.94G>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016255	0.54468	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.09	3.2	0.36748	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.87466	0.6184	H	0.96777	3.88	0.29496	N	0.855251	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.962;0.995;0.987	T	0.81178	-0.1051	9	0.87932	D	0	.	7.6006	0.28073	0.1916:0.0:0.8084:0.0	.	32;32;32	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	C	32	ENSP00000356025:G32C;ENSP00000356024:G32C;ENSP00000356026:G32C;ENSP00000404222:G32C	ENSP00000356024:G32C	G	+	1	0	CR2	205706529	0.999000	0.42202	0.171000	0.22900	0.009000	0.06853	1.924000	0.40065	0.725000	0.32318	0.655000	0.94253	GGC		PASS	0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		9	188	9	188	---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212560296	212560296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:212560296C>A	ENST00000261455.4	-	3	417	c.280G>T	c.(280-282)Gag>Tag	p.E94*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.E155*|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	94						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E94*(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGAGTTTCTCACGAAAGTCT	0.557																																						uc001hjc.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(280-282)GAG>TAG		transmembrane protein 206							176.0	165.0	169.0					1																	212560296		2203	4300	6503	SO:0001587	stop_gained	55248					integral to membrane		g.chr1:212560296C>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.280G>T	1.37:g.212560296C>A	ENSP00000261455:p.Glu94*					TMEM206_uc010pte.1_Nonsense_Mutation_p.E155*	p.E94*	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	3	448	-			94			Extracellular (Potential).		B7Z4D6|Q6IA87|Q9NV85	Nonsense_Mutation	SNP	ENST00000261455.4	37	c.280G>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	C	36	5.602983	0.96614	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	4.97	4.06	0.47325	.	0.151019	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.9752	13.5179	0.61551	0.0:0.9239:0.0:0.0761	.	.	.	.	X	94;155	.	ENSP00000261455:E94X	E	-	1	0	TMEM206	210626919	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	4.555000	0.60767	1.212000	0.43366	0.650000	0.86243	GAG		PASS	0.557	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		7	98	7	98	---	---	---	---
SPATA45	149643	broad.mit.edu	37	1	213009399	213009399	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:213009399G>T	ENST00000332912.3	-	2	200	c.93C>A	c.(91-93)tcC>tcA	p.S31S		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		31								p.S31S(1)		kidney(1)|large_intestine(1)|lung(1)	3						CCAAGCAGTTGGATTCACGCT	0.408																																						uc001hjq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)TCC>TCA		hypothetical protein LOC149643							190.0	177.0	181.0					1																	213009399		2203	4297	6500	SO:0001819	synonymous_variant	149643							g.chr1:213009399G>T																												ENST00000332912.3:c.93C>A	1.37:g.213009399G>T							p.S31S	NM_001024601	NP_001019772	Q537H7	CA227_HUMAN			2	201	-			31						Silent	SNP	ENST00000332912.3	37	c.93C>A	CCDS31020.1																																																																																				PASS	0.408	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			7	110	7	110	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216052154	216052154	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:216052154A>T	ENST00000307340.3	-	42	8896	c.8510T>A	c.(8509-8511)gTt>gAt	p.V2837D	USH2A_ENST00000366943.2_Missense_Mutation_p.V2837D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2837	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2837D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAAATCACAACATATGATTC	0.438										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8509-8511)GTT>GAT		usherin isoform B							118.0	111.0	113.0					1																	216052154		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052154A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8510T>A	1.37:g.216052154A>T	ENSP00000305941:p.Val2837Asp	HNSCC(13;0.011)					p.V2837D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8897	-			2837			Extracellular (Potential).|Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8510T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311928	0.60414	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60920	0.15;0.15	5.62	4.5	0.54988	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.180772	0.26244	N	0.025495	T	0.68851	0.3046	M	0.61703	1.905	0.48632	D	0.999683	D	0.58970	0.984	P	0.60541	0.876	T	0.70857	-0.4758	10	0.87932	D	0	.	11.4791	0.50316	0.9301:0.0:0.0699:0.0	.	2837	O75445	USH2A_HUMAN	D	2837	ENSP00000305941:V2837D;ENSP00000355910:V2837D	ENSP00000305941:V2837D	V	-	2	0	USH2A	214118777	1.000000	0.71417	0.675000	0.29917	0.489000	0.33432	6.946000	0.75953	0.967000	0.38186	0.528000	0.53228	GTT		PASS	0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	38	6	38	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216500991	216500991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:216500991C>A	ENST00000307340.3	-	5	1176	c.790G>T	c.(790-792)Gag>Tag	p.E264*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.E264*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.E264*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	264					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E264*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAAACTGCTCTAAACCTGCA	0.368										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(790-792)GAG>TAG		usherin isoform B							137.0	130.0	132.0					1																	216500991		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216500991C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.790G>T	1.37:g.216500991C>A	ENSP00000305941:p.Glu264*	HNSCC(13;0.011)				USH2A_uc001hkv.2_Nonsense_Mutation_p.E264*	p.E264*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	5	1177	-			264			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.790G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	41	8.718769	0.98927	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.52	3.6	0.41247	.	0.000000	0.41605	U	0.000848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.77	0.78162	0.0:0.7269:0.2731:0.0	.	.	.	.	X	264	.	ENSP00000305941:E264X	E	-	1	0	USH2A	214567614	1.000000	0.71417	0.124000	0.21820	0.979000	0.70002	4.075000	0.57584	0.661000	0.30985	0.563000	0.77884	GAG		PASS	0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	89	7	89	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222801477	222801477	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:222801477G>A	ENST00000344922.5	+	4	940	c.915G>A	c.(913-915)gaG>gaA	p.E305E	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Silent_p.E305E|MIA3_ENST00000344441.6_Silent_p.E305E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	305					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E305E(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATTTTGATGAGGAATTGGATA	0.388																																						uc001hnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(913-915)GAG>GAA		melanoma inhibitory activity family, member 3							115.0	109.0	111.0					1																	222801477		1893	4115	6008	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801477G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.915G>A	1.37:g.222801477G>A						MIA3_uc009xea.1_Silent_p.E141E	p.E305E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	924	+			305			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.915G>A	CCDS41470.1																																																																																				PASS	0.388	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		12	67	12	67	---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223285199	223285199	+	Missense_Mutation	SNP	C	C	A	rs144418928	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:223285199C>A	ENST00000540964.1	-	4	1636	c.1175G>T	c.(1174-1176)cGa>cTa	p.R392L	TLR5_ENST00000342210.6_Missense_Mutation_p.R392L			O60602	TLR5_HUMAN	toll-like receptor 5	392			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.R392L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCATTGTCTCGGAGATCCAA	0.378																																						uc001hnv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1174-1176)CGA>CTA		toll-like receptor 5 precursor							103.0	102.0	103.0					1																	223285199		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285199C>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1175G>T	1.37:g.223285199C>A	ENSP00000440643:p.Arg392Leu					TLR5_uc001hnw.1_Missense_Mutation_p.R392L	p.R392L	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1621	-			392		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	Extracellular (Potential).|LRR 9.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1175G>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262444	0.59431	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.37584	1.19;1.19;1.19	5.59	2.72	0.32119	.	0.554792	0.18536	N	0.138357	T	0.58409	0.2120	M	0.87269	2.87	0.40981	D	0.984779	D	0.57899	0.981	D	0.65010	0.931	T	0.57740	-0.7759	10	0.24483	T	0.36	.	10.8314	0.46663	0.0:0.7947:0.0:0.2053	.	392	O60602	TLR5_HUMAN	L	392	ENSP00000440643:R392L;ENSP00000355846:R392L;ENSP00000340089:R392L	ENSP00000340089:R392L	R	-	2	0	TLR5	221351822	0.977000	0.34250	0.324000	0.25361	0.748000	0.42578	2.586000	0.46119	0.311000	0.23014	0.650000	0.86243	CGA		PASS	0.378	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		5	76	5	76	---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226016448	226016448	+	Silent	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:226016448C>G	ENST00000366837.4	+	2	214	c.18C>G	c.(16-18)ctC>ctG	p.L6L	EPHX1_ENST00000272167.5_Silent_p.L6L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	6					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.L6L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TAGAAATCCTCCTCACTTCAG	0.587																																						uc001hpk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(16-18)CTC>CTG		epoxide hydrolase 1							49.0	47.0	48.0					1																	226016448		2203	4300	6503	SO:0001819	synonymous_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226016448C>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.18C>G	1.37:g.226016448C>G						EPHX1_uc001hpl.2_Silent_p.L6L	p.L6L	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			2	98	+	Breast(184;0.197)		6			Helical; Signal-anchor; (Potential).		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Silent	SNP	ENST00000366837.4	37	c.18C>G	CCDS1547.1																																																																																				PASS	0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		7	38	7	38	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226923323	226923323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:226923323C>A	ENST00000272117.3	-	1	1836	c.1837G>T	c.(1837-1839)Gaa>Taa	p.E613*	ITPKB_ENST00000429204.1_Nonsense_Mutation_p.E613*|ITPKB_ENST00000366784.1_Nonsense_Mutation_p.E613*			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	613					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.E139K(1)|p.E139*(1)|p.E613*(1)|p.E613K(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCTGAGTCTTCGTAGGATGAG	0.612																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		large_intestine(2)|lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1837-1839)GAA>TAA		1D-myo-inositol-trisphosphate 3-kinase B							97.0	90.0	92.0					1																	226923323		2203	4300	6503	SO:0001587	stop_gained	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923323C>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1837G>T	1.37:g.226923323C>A	ENSP00000272117:p.Glu613*					ITPKB_uc001hqh.2_Nonsense_Mutation_p.E613*	p.E613*	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	2177	-		Prostate(94;0.0773)	613					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Nonsense_Mutation	SNP	ENST00000272117.3	37	c.1837G>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	45	11.536597	0.99573	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	.	.	.	5.68	5.68	0.88126	.	0.338132	0.33610	N	0.004732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.8817	20.14	0.98056	0.0:1.0:0.0:0.0	.	.	.	.	X	613	.	ENSP00000272117:E613X	E	-	1	0	ITPKB	224989946	1.000000	0.71417	0.373000	0.26003	0.947000	0.59692	6.487000	0.73633	2.837000	0.97791	0.591000	0.81541	GAA		PASS	0.612	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		4	47	4	47	---	---	---	---
GUK1	2987	broad.mit.edu	37	1	228334602	228334602	+	Nonsense_Mutation	SNP	G	G	T	rs540403059		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:228334602G>T	ENST00000366718.1	+	4	641	c.214G>T	c.(214-216)Gag>Tag	p.E72*	GUK1_ENST00000312726.4_Nonsense_Mutation_p.E72*|GUK1_ENST00000366726.1_Nonsense_Mutation_p.E72*|GUK1_ENST00000366723.1_Nonsense_Mutation_p.E93*|GUK1_ENST00000470040.1_3'UTR|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366721.1_Nonsense_Mutation_p.E74*|GUK1_ENST00000366728.2_Nonsense_Mutation_p.E93*|GUK1_ENST00000391865.3_Nonsense_Mutation_p.E93*|GUK1_ENST00000366730.1_Nonsense_Mutation_p.E72*|GUK1_ENST00000366722.1_Nonsense_Mutation_p.E72*|GUK1_ENST00000366716.1_Nonsense_Mutation_p.E72*	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	72	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.E72*(1)|p.E138*(1)		endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CGACTTCATCGAGCATGCCGA	0.602																																						uc001hsh.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(214-216)GAG>TAG		guanylate kinase 1 isoform b							147.0	127.0	134.0					1																	228334602		2203	4300	6503	SO:0001587	stop_gained	2987				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	g.chr1:228334602G>T	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.214G>T	1.37:g.228334602G>T	ENSP00000355679:p.Glu72*					GUK1_uc001hsi.2_Nonsense_Mutation_p.E93*|GUK1_uc001hsj.2_Nonsense_Mutation_p.E12*|GUK1_uc010pvv.1_Nonsense_Mutation_p.E72*|GJC2_uc001hsk.2_5'Flank	p.E72*	NM_000858	NP_000849	Q16774	KGUA_HUMAN			5	517	+		Prostate(94;0.0405)	72			Guanylate kinase-like.		B1ANH1	Nonsense_Mutation	SNP	ENST00000366718.1	37	c.214G>T	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129034	0.56721	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	.	.	.	5.21	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5773	0.68258	0.0:0.1462:0.8538:0.0	.	.	.	.	X	72;93;72;72;93;93;93;72;138;74;138;72;72;75	.	ENSP00000317659:E72X	E	+	1	0	GUK1	226401225	1.000000	0.71417	0.988000	0.46212	0.223000	0.24884	8.969000	0.93411	2.423000	0.82170	0.650000	0.86243	GAG		PASS	0.602	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858		5	56	5	56	---	---	---	---
B3GALNT2	148789	broad.mit.edu	37	1	235647796	235647796	+	Nonsense_Mutation	SNP	C	C	A	rs146090744	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:235647796C>A	ENST00000366600.3	-	4	625	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.E174*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	133					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)	p.E133*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GAAGTGTCTTCGGACAGACTG	0.418																																						uc001hxc.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(397-399)GAA>TAA		beta-1,3-N-acetylgalactosaminyltransferase 2							154.0	152.0	153.0					1																	235647796		2203	4300	6503	SO:0001587	stop_gained	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235647796C>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.397G>T	1.37:g.235647796C>A	ENSP00000355559:p.Glu133*					B3GALNT2_uc001hxd.1_Nonsense_Mutation_p.E174*	p.E133*	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		4	626	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	133			Lumenal (Potential).		Q59GR3|Q5TCI3|Q96AL7	Nonsense_Mutation	SNP	ENST00000366600.3	37	c.397G>T	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	38	6.646168	0.97730	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.74	4.74	0.60224	.	0.316596	0.37393	N	0.002120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-16.9826	16.7986	0.85609	0.0:1.0:0.0:0.0	.	.	.	.	X	174;133;174	.	ENSP00000315678:E174X	E	-	1	0	B3GALNT2	233714419	1.000000	0.71417	0.998000	0.56505	0.687000	0.40016	5.191000	0.65110	2.582000	0.87167	0.655000	0.94253	GAA		PASS	0.418	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		5	115	5	115	---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236388417	236388417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:236388417C>A	ENST00000354619.5	-	13	1276	c.1075G>T	c.(1075-1077)Gag>Tag	p.E359*		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	359					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.E359*(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ATGGATTTCTCATCAAAGTGC	0.398																																						uc001hxt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1075-1077)GAG>TAG		endoplasmic reticulum oxidoreductin 1-Lbeta							138.0	132.0	134.0					1																	236388417		2203	4300	6503	SO:0001587	stop_gained	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236388417C>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1075G>T	1.37:g.236388417C>A	ENSP00000346635:p.Glu359*						p.E359*	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	1331	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	359					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Nonsense_Mutation	SNP	ENST00000354619.5	37	c.1075G>T	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	36	5.944891	0.97134	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.3354	19.3511	0.94387	0.0:1.0:0.0:0.0	.	.	.	.	X	359;84	.	ENSP00000264181:E84X	E	-	1	0	ERO1LB	234455040	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.464000	0.80887	2.566000	0.86566	0.460000	0.39030	GAG		PASS	0.398	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		7	106	7	106	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236925848	236925848	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:236925848C>A	ENST00000366578.4	+	21	2780	c.2614C>A	c.(2614-2616)Cca>Aca	p.P872T	ACTN2_ENST00000546208.1_Missense_Mutation_p.P366T|ACTN2_ENST00000542672.1_Missense_Mutation_p.P872T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	872					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.P872T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTACTCGGGCCCAGGCAGTGT	0.587																																						uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2614-2616)CCA>ACA		actinin, alpha 2							57.0	51.0	53.0					1																	236925848		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236925848C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2614C>A	1.37:g.236925848C>A	ENSP00000355537:p.Pro872Thr					ACTN2_uc001hyg.2_Missense_Mutation_p.P664T|ACTN2_uc009xgi.1_Missense_Mutation_p.P872T|ACTN2_uc010pxu.1_Missense_Mutation_p.P561T|ACTN2_uc001hyh.2_Missense_Mutation_p.P560T	p.P872T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		21	2818	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	872					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2614C>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236090	0.58886	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.47528	0.84;0.84;0.84	5.43	5.43	0.79202	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.203517	0.52532	D	0.000064	T	0.65709	0.2717	M	0.84846	2.72	0.80722	D	1	B;B;B;P	0.39404	0.011;0.014;0.02;0.672	B;B;B;P	0.47251	0.023;0.082;0.023;0.542	T	0.69844	-0.5035	10	0.62326	D	0.03	.	19.6166	0.95636	0.0:1.0:0.0:0.0	.	657;872;642;872	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	T	872;872;366;641	ENSP00000443495:P872T;ENSP00000355537:P872T;ENSP00000438384:P366T	ENSP00000355537:P872T	P	+	1	0	ACTN2	234992471	0.947000	0.32204	0.964000	0.40570	0.300000	0.27592	3.861000	0.56002	2.721000	0.93114	0.655000	0.94253	CCA		PASS	0.587	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		5	17	5	17	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497236	240497236	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:240497236A>G	ENST00000319653.9	+	12	4864	c.4634A>G	c.(4633-4635)aAt>aGt	p.N1545S	FMN2_ENST00000545751.1_Missense_Mutation_p.N141S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1545	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.N1688S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TATCTCCGAAATTTTGATGAG	0.294																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4633-4635)AAT>AGT		formin 2							55.0	54.0	54.0					1																	240497236		2203	4298	6501	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240497236A>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4634A>G	1.37:g.240497236A>G	ENSP00000318884:p.Asn1545Ser					FMN2_uc010pye.1_Missense_Mutation_p.N1549S|FMN2_uc010pyf.1_Missense_Mutation_p.N191S|FMN2_uc010pyg.1_Missense_Mutation_p.N141S	p.N1545S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		12	4859	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1545			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4634A>G	CCDS31069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.06|14.06	2.423045|2.423045	0.43020|0.43020	.|.	.|.	ENSG00000155816|ENSG00000155816	ENST00000406993|ENST00000319653;ENST00000545751;ENST00000537355	.|T;T	.|0.39997	.|1.05;1.05	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	.|0.083618	.|0.50627	.|D	.|0.000119	T|T	0.47507|0.47507	0.1449|0.1449	N|N	0.20357|0.20357	0.565|0.565	0.80722|0.80722	D|D	1|1	.|B;B;D;P	.|0.61697	.|0.425;0.082;0.99;0.605	.|B;B;P;B	.|0.61722	.|0.233;0.053;0.893;0.387	T|T	0.48843|0.48843	-0.8999|-0.8999	6|10	0.19147|0.48119	T|T	0.46|0.1	.|.	16.0623|16.0623	0.80847|0.80847	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|141;191;174;1545	.|B4DP05;F5H2C1;B4DN09;Q9NZ56	.|.;.;.;FMN2_HUMAN	V|S	22|1545;141;172	.|ENSP00000318884:N1545S;ENSP00000437918:N141S	ENSP00000384983:I22V|ENSP00000318884:N1545S	I|N	+|+	1|2	0|0	FMN2|FMN2	238563859|238563859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.012000|9.012000	0.93624|0.93624	2.195000|2.195000	0.70347|0.70347	0.533000|0.533000	0.62120|0.62120	ATT|AAT		PASS	0.294	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	72	7	72	---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243708878	243708878	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:243708878A>C	ENST00000366539.1	-	12	1385	c.1185T>G	c.(1183-1185)gaT>gaG	p.D395E	RP11-269F20.1_ENST00000439849.1_RNA|AKT3_ENST00000366540.1_Missense_Mutation_p.D395E|AKT3_ENST00000263826.5_Missense_Mutation_p.D395E|AKT3_ENST00000336199.5_Missense_Mutation_p.D395E			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D395E(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTCTTTTGCATCATCTGGTC	0.299																																						uc001iab.1																			3	Substitution - Missense(3)		lung(3)	stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1183-1185)GAT>GAG		AKT3 kinase isoform 1							103.0	100.0	101.0					1																	243708878		2203	4298	6501	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243708878A>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1185T>G	1.37:g.243708878A>C	ENSP00000355497:p.Asp395Glu					AKT3_uc001hzz.1_Missense_Mutation_p.D395E	p.D395E	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		11	1266	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	395			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.1185T>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417188	0.83449	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	N	0.10645	0.015	0.80722	D	1	D;P	0.63880	0.993;0.953	D;P	0.63957	0.92;0.739	T	0.55335	-0.8157	10	0.87932	D	0	.	11.3217	0.49426	0.9297:0.0:0.0703:0.0	.	395;395	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	E	395	ENSP00000336943:D395E;ENSP00000355498:D395E;ENSP00000355497:D395E;ENSP00000263826:D395E	ENSP00000263826:D395E	D	-	3	2	AKT3	241775501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.671000	0.46842	2.244000	0.73946	0.528000	0.53228	GAT		PASS	0.299	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		23	96	23	96	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875492	247875492	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:247875492C>A	ENST00000302084.2	-	1	613	c.566G>T	c.(565-567)tGc>tTc	p.C189F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTGTTGGTGCAGGCCAGGGC	0.532																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)TGC>TTC		olfactory receptor, family 6, subfamily F,							107.0	101.0	103.0					1																	247875492		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875492C>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.566G>T	1.37:g.247875492C>A	ENSP00000305640:p.Cys189Phe						p.C189F	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	566	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		189			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.566G>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320203	0.23994	.	.	ENSG00000169214	ENST00000302084	T	0.00460	7.27	3.99	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000213	T	0.02012	0.0063	H	0.96547	3.84	0.31846	N	0.622891	D	0.89917	1.0	D	0.91635	0.999	T	0.01791	-1.1273	10	0.87932	D	0	-37.546	7.5122	0.27579	0.0:0.7312:0.1723:0.0966	.	189	Q8NGZ6	OR6F1_HUMAN	F	189	ENSP00000305640:C189F	ENSP00000305640:C189F	C	-	2	0	OR6F1	245942115	0.998000	0.40836	0.244000	0.24202	0.064000	0.16182	4.763000	0.62257	0.999000	0.39023	0.591000	0.81541	TGC		PASS	0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		6	40	6	40	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978481	247978481	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:247978481G>A	ENST00000357627.1	-	1	550	c.551C>T	c.(550-552)gCt>gTt	p.A184V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A184V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCAAGAAATAGCTAATAACTG	0.393																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)GCT>GTT		olfactory receptor, family 14, subfamily A,							66.0	66.0	66.0					1																	247978481		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978481G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.551C>T	1.37:g.247978481G>A	ENSP00000350248:p.Ala184Val						p.A184V	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	551	-			184			Extracellular (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.551C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837384	0.50951	.	.	ENSG00000196772	ENST00000357627	T	0.00137	8.68	3.52	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	2.434570	0.02536	U	0.094102	T	0.00210	0.0006	L	0.38175	1.15	0.09310	N	1	B	0.23591	0.088	B	0.36608	0.229	T	0.47355	-0.9124	10	0.66056	D	0.02	.	8.2637	0.31801	0.0:0.243:0.6088:0.1482	.	184	Q8NHC5	O14AG_HUMAN	V	184	ENSP00000350248:A184V	ENSP00000350248:A184V	A	-	2	0	OR14A16	246045104	0.000000	0.05858	0.216000	0.23742	0.529000	0.34654	-0.042000	0.12063	2.015000	0.59207	0.596000	0.82720	GCT		PASS	0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		7	29	7	29	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039501	248039501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr1:248039501G>T	ENST00000366481.3	+	6	1219	c.1171G>T	c.(1171-1173)Gag>Tag	p.E391*	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	391	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E391*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAGGGAATGAGTACATGGT	0.527																																						uc001ido.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1171-1173)GAG>TAG		tripartite motif-containing 58							124.0	127.0	126.0					1																	248039501		2203	4300	6503	SO:0001587	stop_gained	25893					intracellular	zinc ion binding	g.chr1:248039501G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1171G>T	1.37:g.248039501G>T	ENSP00000355437:p.Glu391*					OR2W3_uc001idp.1_Intron	p.E391*	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1219	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	391			B30.2/SPRY.		Q6B0H9	Nonsense_Mutation	SNP	ENST00000366481.3	37	c.1171G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238645	0.79800	.	.	ENSG00000162722	ENST00000366481	.	.	.	4.05	4.05	0.47172	.	0.215721	0.32736	N	0.005710	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	14.5446	0.68020	0.0:0.0:1.0:0.0	.	.	.	.	X	391	.	ENSP00000355437:E391X	E	+	1	0	TRIM58	246106124	0.002000	0.14202	0.954000	0.39281	0.344000	0.29017	1.261000	0.32980	2.559000	0.86315	0.650000	0.86243	GAG		PASS	0.527	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		7	84	7	84	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1667512	1667512	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:1667512G>T	ENST00000252804.4	-	12	1482	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	478	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R478R(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCAGGTGCCGCCGGTCCACG	0.602																																						uc002qxa.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(1432-1434)CGG>AGG		peroxidasin precursor							61.0	68.0	66.0					2																	1667512		2039	4180	6219	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667512G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1432C>A	2.37:g.1667512G>T						PXDN_uc002qxb.1_Silent_p.R478R	p.R478R	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1496	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	478			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.1432C>A	CCDS46221.1																																																																																				PASS	0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		12	46	12	46	---	---	---	---
RNASEH1	246243	broad.mit.edu	37	2	3599829	3599829	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:3599829C>G	ENST00000315212.3	-	3	669	c.314G>C	c.(313-315)gGa>gCa	p.G105A		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	105					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.G105A(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ATGTCCATCTCCATCCAGTGG	0.542																																						uc002qxt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)GGA>GCA		ribonuclease H1							86.0	79.0	82.0					2																	3599829		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3599829C>G	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.314G>C	2.37:g.3599829C>G	ENSP00000313350:p.Gly105Ala					RNASEH1_uc002qxs.2_5'UTR	p.G105A	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	3	404	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		105					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.314G>C	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126374	0.08931	.	.	ENSG00000171865	ENST00000315212	T	0.41758	0.99	5.5	-3.84	0.04256	.	1.921390	0.02859	N	0.130042	T	0.22166	0.0534	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.11665	-1.0578	10	0.14656	T	0.56	-21.1834	5.668	0.17707	0.0:0.3779:0.2778:0.3443	.	105	O60930	RNH1_HUMAN	A	105	ENSP00000313350:G105A	ENSP00000313350:G105A	G	-	2	0	RNASEH1	3577704	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.683000	0.25349	-0.351000	0.08249	-0.793000	0.03317	GGA		PASS	0.542	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			13	62	13	62	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9514948	9514948	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:9514948G>C	ENST00000281419.3	+	17	1961	c.1621G>C	c.(1621-1623)Gcg>Ccg	p.A541P	ASAP2_ENST00000315273.4_Missense_Mutation_p.A541P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	541	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.A541P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGAAGCACGCGGATAACGC	0.468																																						uc002qzh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GCG>CCG		ArfGAP with SH3 domain, ankyrin repeat and PH							121.0	114.0	117.0					2																	9514948		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9514948G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1621G>C	2.37:g.9514948G>C	ENSP00000281419:p.Ala541Pro					ASAP2_uc002qzi.2_Missense_Mutation_p.A541P	p.A541P	NM_003887	NP_003878	O43150	ASAP2_HUMAN			17	1961	+			541			Arf-GAP.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1621G>C	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	5.483	0.274230	0.10403	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58358	0.39;0.34	5.27	2.03	0.26663	Ankyrin repeat-containing domain (1);	0.341865	0.34067	N	0.004290	T	0.26484	0.0647	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	0.12915	-1.0529	10	0.25106	T	0.35	.	6.8563	0.24042	0.2309:0.2264:0.5427:0.0	.	541;541	O43150-2;O43150	.;ASAP2_HUMAN	P	541	ENSP00000281419:A541P;ENSP00000316404:A541P	ENSP00000281419:A541P	A	+	1	0	ASAP2	9432399	0.000000	0.05858	0.026000	0.17262	0.124000	0.20399	-0.215000	0.09279	0.613000	0.30089	-0.136000	0.14681	GCG		PASS	0.468	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		11	46	11	46	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9576404	9576404	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:9576404C>A	ENST00000238112.3	+	7	880	c.674C>A	c.(673-675)aCt>aAt	p.T225N	CPSF3_ENST00000460593.1_Missense_Mutation_p.T188N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	225					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.T225N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTCTGTAACACTGTCCACGAT	0.438																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(673-675)ACT>AAT		cleavage and polyadenylation specific factor 3,							210.0	189.0	196.0					2																	9576404		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9576404C>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.674C>A	2.37:g.9576404C>A	ENSP00000238112:p.Thr225Asn					CPSF3_uc010ewx.1_Missense_Mutation_p.T225N|CPSF3_uc002qzp.1_Missense_Mutation_p.T188N	p.T225N	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	7	709	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	225					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.674C>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638032	0.67130	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.42131	0.98;0.98	5.84	5.84	0.93424	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.67625	2.065	0.80722	D	1	B;B	0.21606	0.058;0.007	B;B	0.26693	0.021;0.072	T	0.37126	-0.9719	10	0.18276	T	0.48	-14.5579	20.137	0.98033	0.0:1.0:0.0:0.0	.	225;225	E7ER23;Q9UKF6	.;CPSF3_HUMAN	N	225;225;188	ENSP00000238112:T225N;ENSP00000418957:T188N	ENSP00000238112:T225N	T	+	2	0	CPSF3	9493855	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.717000	0.84732	2.771000	0.95319	0.655000	0.94253	ACT		PASS	0.438	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		5	89	5	89	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15378737	15378737	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:15378737C>A	ENST00000281513.5	-	45	5823	c.5798G>T	c.(5797-5799)aGg>aTg	p.R1933M	NBAS_ENST00000441750.1_Missense_Mutation_p.R1813M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1933					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R1933M(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTTTCTTTTCCTTGGCTTCTC	0.383																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(5797-5799)AGG>ATG		neuroblastoma-amplified protein							121.0	122.0	122.0					2																	15378737		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15378737C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5798G>T	2.37:g.15378737C>A	ENSP00000281513:p.Arg1933Met					NBAS_uc002rcb.1_Translation_Start_Site|NBAS_uc010exl.1_Missense_Mutation_p.R1005M|NBAS_uc002rcd.1_RNA	p.R1933M	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			45	5824	-			1933					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5798G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.44|16.44	3.123246|3.123246	0.56613|0.56613	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000417461	.|T;T;T	.|0.50813	.|2.85;3.03;0.73	5.97|5.97	4.17|4.17	0.49024|0.49024	.|.	.|0.122142	.|0.85682	.|D	.|0.000000	.|T	.|0.64068	.|0.2565	M|M	0.62723|0.62723	1.935|1.935	0.39086|0.39086	D|D	0.960999|0.960999	.|D;D	.|0.76494	.|0.999;0.999	.|D;P	.|0.72075	.|0.976;0.907	.|T	.|0.70313	.|-0.4906	.|10	.|0.87932	.|D	.|0	.|.	13.1133|13.1133	0.59285|0.59285	0.0:0.8686:0.0:0.1314|0.0:0.8686:0.0:0.1314	.|.	.|1813;1933	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	X|M	981|1813;1933;25	.|ENSP00000413201:R1813M;ENSP00000281513:R1933M;ENSP00000392421:R25M	.|ENSP00000281513:R1933M	G|R	-|-	1|2	0|0	NBAS|NBAS	15296188|15296188	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.601000|0.601000	0.36947|0.36947	1.785000|1.785000	0.38684|0.38684	1.527000|1.527000	0.49086|0.49086	0.655000|0.655000	0.94253|0.94253	GGA|AGG		PASS	0.383	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	68	6	68	---	---	---	---
UBXN2A	165324	broad.mit.edu	37	2	24194180	24194180	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:24194180G>T	ENST00000309033.4	+	3	320	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.G26C|UBXN2A_ENST00000535786.1_Missense_Mutation_p.G26C	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	26					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)		p.G26C(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TCAACCTCTTGGTAATAATCA	0.328																																						uc010exy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)GGT>TGT		UBX domain containing 4							136.0	145.0	142.0					2																	24194180		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24194180G>T	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.76G>T	2.37:g.24194180G>T	ENSP00000312107:p.Gly26Cys					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.G26C|UBXN2A_uc010ykj.1_Missense_Mutation_p.G26C	p.G26C	NM_181713	NP_859064	P68543	UBX2A_HUMAN			4	544	+			26					A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.76G>T	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056789	0.19907	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.45668	0.91;0.91;0.89	4.53	-2.75	0.05914	.	0.855077	0.10682	N	0.646252	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16541	-1.0399	10	0.66056	D	0.02	-1.0027	1.4315	0.02335	0.4944:0.1375:0.2341:0.134	.	26;26	B7ZKP8;P68543	.;UBX2A_HUMAN	C	26	ENSP00000385525:G26C;ENSP00000312107:G26C;ENSP00000440533:G26C	ENSP00000312107:G26C	G	+	1	0	UBXN2A	24047684	0.000000	0.05858	0.014000	0.15608	0.916000	0.54674	0.129000	0.15830	-0.208000	0.10171	-1.052000	0.02337	GGT		PASS	0.328	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		9	173	9	173	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25497891	25497891	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:25497891C>A	ENST00000264709.3	-	6	895	c.558G>T	c.(556-558)ccG>ccT	p.P186P	DNMT3A_ENST00000321117.5_Silent_p.P186P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	186					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.P186P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGAGCCTCGGCATGGGCC	0.667			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(556-558)CCG>CCT		DNA cytosine methyltransferase 3 alpha isoform							29.0	27.0	28.0					2																	25497891		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497891C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.558G>T	2.37:g.25497891C>A						DNMT3A_uc002rgd.2_Silent_p.P186P|DNMT3A_uc010eyi.2_RNA	p.P186P	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			6	815	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		186					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.558G>T	CCDS33157.1																																																																																				PASS	0.667	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	7	4	7	---	---	---	---
DTNB	1838	broad.mit.edu	37	2	25875473	25875473	+	Missense_Mutation	SNP	G	G	T	rs370519102		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:25875473G>T	ENST00000406818.3	-	2	306	c.57C>A	c.(55-57)ttC>ttA	p.F19L	DTNB_ENST00000404103.3_Missense_Mutation_p.F19L|DTNB_ENST00000496972.2_5'Flank|DTNB_ENST00000405222.1_Missense_Mutation_p.F19L|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.F19L|DTNB_ENST00000407661.3_Missense_Mutation_p.F19L|DTNB_ENST00000407038.3_Missense_Mutation_p.F19L|DTNB_ENST00000288642.8_Missense_Mutation_p.F19L|DTNB_ENST00000472690.1_5'Flank	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	19						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.F19L(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATTTCTATGAACAGCTGCC	0.383																																						uc002rgh.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(55-57)TTC>TTA		dystrobrevin, beta isoform 1							191.0	182.0	185.0					2																	25875473		1950	4150	6100	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25875473G>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.57C>A	2.37:g.25875473G>T	ENSP00000384084:p.Phe19Leu					DTNB_uc010yko.1_5'Flank|DTNB_uc010ykp.1_5'UTR|DTNB_uc002rgo.2_5'UTR|DTNB_uc002rgi.2_Missense_Mutation_p.F19L|DTNB_uc002rgj.2_Missense_Mutation_p.F19L|DTNB_uc002rgk.2_Missense_Mutation_p.F19L|DTNB_uc002rgl.2_Missense_Mutation_p.F19L|DTNB_uc002rgq.2_Missense_Mutation_p.F19L|DTNB_uc002rgm.2_Missense_Mutation_p.F19L|DTNB_uc002rgn.2_5'UTR|DTNB_uc002rgr.1_Missense_Mutation_p.F8L|DTNB_uc010ykq.1_5'UTR	p.F19L	NM_021907	NP_068707	O60941	DTNB_HUMAN			2	307	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		19					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.57C>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.224848	0.22457	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.34	4.44	0.53790	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.47190	1.495	0.80722	D	1	B;B;B;B;B;B;B;B	0.20052	0.003;0.004;0.001;0.009;0.003;0.007;0.003;0.041	B;B;B;B;B;B;B;B	0.25405	0.008;0.044;0.013;0.06;0.026;0.036;0.026;0.06	T	0.25363	-1.0134	10	0.08179	T	0.78	-24.5555	10.5264	0.44952	0.094:0.0:0.906:0.0	.	19;19;19;19;19;19;19;19	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	L	19	ENSP00000384084:F19L;ENSP00000385482:F19L;ENSP00000385193:F19L;ENSP00000384767:F19L;ENSP00000384787:F19L;ENSP00000385784:F19L;ENSP00000288642:F19L;ENSP00000306529:F19L;ENSP00000340957:F19L	ENSP00000288642:F19L	F	-	3	2	DTNB	25728977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.199000	0.58426	2.665000	0.90641	0.644000	0.83932	TTC		PASS	0.383	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		8	191	8	191	---	---	---	---
C2orf70	339778	broad.mit.edu	37	2	26802211	26802211	+	Nonsense_Mutation	SNP	G	G	T	rs147381361	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:26802211G>T	ENST00000329615.3	+	4	542	c.511G>T	c.(511-513)Gag>Tag	p.E171*	CIB4_ENST00000405346.3_5'Flank|C2orf70_ENST00000409392.1_Missense_Mutation_p.R158L	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	171						nucleus (GO:0005634)		p.E171K(1)|p.E171*(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						ACTAGCCCCCGAGAACCTGAA	0.532																																						uc010eyn.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(1)	1						c.(511-513)GAG>TAG		hypothetical protein LOC339778							84.0	86.0	85.0					2																	26802211		1961	4144	6105	SO:0001587	stop_gained	339778							g.chr2:26802211G>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.511G>T	2.37:g.26802211G>T	ENSP00000332875:p.Glu171*						p.E171*	NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN			4	511	+			171						Nonsense_Mutation	SNP	ENST00000329615.3	37	c.511G>T	CCDS42661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.981792|1.981792	0.34942|0.34942	.|.	.|.	ENSG00000173557|ENSG00000173557	ENST00000329615|ENST00000409392;ENST00000453368	.|.	.|.	.|.	5.3|5.3	3.45|3.45	0.39498|0.39498	.|.	0.517808|.	0.17707|.	N|.	0.164704|.	.|T	.|0.41351	.|0.1155	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36016	.|-0.9765	.|5	0.09084|0.87932	T|D	0.74|0	-13.7067|-13.7067	6.4437|6.4437	0.21865|0.21865	0.0972:0.1863:0.7166:0.0|0.0972:0.1863:0.7166:0.0	.|.	.|.	.|.	.|.	X|L	171|158;97	.|.	ENSP00000332875:E171X|ENSP00000386615:R158L	E|R	+|+	1|2	0|0	C2orf70|C2orf70	26655715|26655715	0.963000|0.963000	0.33076|0.33076	0.088000|0.088000	0.20740|0.20740	0.331000|0.331000	0.28603|0.28603	1.611000|1.611000	0.36879|0.36879	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.532	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		5	41	5	41	---	---	---	---
MAPRE3	22924	broad.mit.edu	37	2	27245131	27245131	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:27245131G>T	ENST00000233121.2	+	2	243	c.45G>T	c.(43-45)ctG>ctT	p.L15L	MAPRE3_ENST00000491354.1_3'UTR|MAPRE3_ENST00000402218.1_Silent_p.L15L|MAPRE3_ENST00000405074.3_Silent_p.L15L			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	15	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.L15L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAAATCTGAGTCGCCATG	0.502																																						uc002rhw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(43-45)CTG>CTT		microtubule-associated protein, RP/EB family,							178.0	165.0	169.0					2																	27245131		2203	4300	6503	SO:0001819	synonymous_variant	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27245131G>T	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.45G>T	2.37:g.27245131G>T						MAPRE3_uc002rhx.2_Silent_p.L15L|MAPRE3_uc010yld.1_Silent_p.L15L	p.L15L	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN			2	198	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		15			CH.		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	c.45G>T	CCDS1731.1																																																																																				PASS	0.502	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		7	96	7	96	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27849963	27849963	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:27849963C>A	ENST00000324364.3	-	2	884	c.704G>T	c.(703-705)tGg>tTg	p.W235L	GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000610189.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.W397L|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000264718.3_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	235								p.W235L(2)|p.W397L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTCCAGATACCACTGTTCCTG	0.478																																						uc002rle.2																			4	Substitution - Missense(4)		lung(4)		0						c.(703-705)TGG>TTG		coiled-coil domain containing 121 isoform 3							86.0	82.0	84.0					2																	27849963		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27849963C>A	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.704G>T	2.37:g.27849963C>A	ENSP00000339087:p.Trp235Leu					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.W399L|CCDC121_uc002rld.2_Missense_Mutation_p.W397L|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.W235L	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	885	-	Acute lymphoblastic leukemia(172;0.155)		235			Potential.		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.704G>T	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534940	0.64972	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.32515	1.45;1.45	5.47	4.57	0.56435	.	0.758769	0.12139	N	0.496011	T	0.37293	0.0998	M	0.66939	2.045	0.31950	N	0.609855	P	0.40180	0.705	B	0.41036	0.346	T	0.49624	-0.8920	10	0.66056	D	0.02	-12.3663	11.4076	0.49906	0.181:0.819:0.0:0.0	.	235	Q6ZUS5	CC121_HUMAN	L	235;397	ENSP00000339087:W235L;ENSP00000412150:W397L	ENSP00000339087:W235L	W	-	2	0	CCDC121	27703467	0.998000	0.40836	0.955000	0.39395	0.829000	0.46940	3.286000	0.51724	1.246000	0.43901	0.591000	0.81541	TGG		PASS	0.478	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		5	50	5	50	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37310555	37310555	+	Start_Codon_SNP	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:37310555C>A	ENST00000233099.5	-	2	98	c.3G>T	c.(1-3)atG>atT	p.M1I	HEATR5B_ENST00000354531.2_Start_Codon_SNP_p.M1I|GPATCH11_ENST00000409774.1_5'Flank|GPATCH11_ENST00000608836.1_5'Flank|GPATCH11_ENST00000281932.5_5'Flank	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.M1I(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGGCTAACTCCATTACGGAAG	0.318																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(1-3)ATG>ATT		HEAT repeat containing 5B							73.0	70.0	71.0					2																	37310555		2203	4300	6503	SO:0001582	initiator_codon_variant	54497						binding	g.chr2:37310555C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3G>T	2.37:g.37310555C>A	ENSP00000233099:p.Met1Ile					CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank	p.M1I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			2	99	-		all_hematologic(82;0.21)	1					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.3G>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171801	0.94807	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08193	3.12;3.12	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02661	-1.1127	9	0.72032	D	0.01	-18.2237	19.6855	0.95978	0.0:1.0:0.0:0.0	.	1	Q9P2D3	HTR5B_HUMAN	I	1	ENSP00000233099:M1I;ENSP00000346531:M1I	ENSP00000233099:M1I	M	-	3	0	HEATR5B	37164059	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.637000	0.89404	0.561000	0.74099	ATG		PASS	0.318	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	Missense_Mutation	6	74	6	74	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38546127	38546127	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:38546127G>T	ENST00000378954.4	-	3	399	c.398C>A	c.(397-399)cCa>cAa	p.P133Q	ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.P115Q|ATL2_ENST00000332337.4_Missense_Mutation_p.P115Q|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.P133Q	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	133	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.P133Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GCCTGTCAATGGTTCATTGTT	0.348																																						uc002rqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(397-399)CCA>CAA		atlastin GTPase 2 isoform 2							215.0	217.0	217.0					2																	38546127		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38546127G>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.398C>A	2.37:g.38546127G>T	ENSP00000368237:p.Pro133Gln					ATL2_uc010ynm.1_Missense_Mutation_p.P115Q|ATL2_uc010ynn.1_Missense_Mutation_p.P115Q|ATL2_uc010yno.1_5'UTR|ATL2_uc002rqs.2_Missense_Mutation_p.P133Q|ATL2_uc002rqr.2_5'UTR	p.P133Q	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN			3	428	-			133			Cytoplasmic.		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.398C>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129423	0.77549	.	.	ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.54	5.54	0.83059	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79329	0.4427	M	0.72624	2.21	0.80722	D	1	P;P;P;B	0.45672	0.76;0.731;0.864;0.407	B;B;P;B	0.46110	0.354;0.325;0.504;0.354	T	0.82176	-0.0587	10	0.72032	D	0.01	-11.1479	18.4693	0.90767	0.0:0.0:1.0:0.0	.	115;115;133;133	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;ATLA2_HUMAN	Q	133;115;133;115;170	ENSP00000368237:P133Q;ENSP00000333393:P115Q;ENSP00000415336:P133Q;ENSP00000390743:P115Q;ENSP00000404921:P170Q	ENSP00000333393:P115Q	P	-	2	0	ATL2	38399631	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.656000	0.98514	2.580000	0.87095	0.563000	0.77884	CCA		PASS	0.348	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		10	299	10	299	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61528293	61528293	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:61528293C>A	ENST00000398571.2	-	29	3997	c.3921G>T	c.(3919-3921)atG>atT	p.M1307I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1307					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.M1307I(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATACAAATACCATCTATAAAA	0.368																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(3919-3921)ATG>ATT		ubiquitin specific protease 34							84.0	82.0	83.0					2																	61528293		1836	4084	5920	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61528293C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3921G>T	2.37:g.61528293C>A	ENSP00000381577:p.Met1307Ile						p.M1307I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		29	3943	-			1307					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3921G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499863	0.44455	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03496	3.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.05731	0.0150	L	0.29908	0.895	0.80722	D	1	P	0.35872	0.525	B	0.42214	0.38	T	0.56129	-0.8030	10	0.17369	T	0.5	.	19.3973	0.94612	0.0:1.0:0.0:0.0	.	1307	Q70CQ2	UBP34_HUMAN	I	1155;1155;1307	ENSP00000381577:M1307I	ENSP00000263989:M1155I	M	-	3	0	USP34	61381797	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.498000	0.81546	2.660000	0.90430	0.455000	0.32223	ATG		PASS	0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	92	7	92	---	---	---	---
PCYOX1	51449	broad.mit.edu	37	2	70486552	70486552	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:70486552G>T	ENST00000433351.2	+	2	201	c.173G>T	c.(172-174)gGg>gTg	p.G58V	PCYOX1_ENST00000264441.5_Missense_Mutation_p.G58V|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	58					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.G58V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGAAATTTGGGAAAGATGTG	0.483																																						uc002sgn.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(172-174)GGG>GTG		prenylcysteine oxidase 1 precursor							179.0	204.0	196.0					2																	70486552		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70486552G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.173G>T	2.37:g.70486552G>T	ENSP00000387654:p.Gly58Val					PCYOX1_uc010fdo.2_5'UTR|PCYOX1_uc010yqu.1_Missense_Mutation_p.G58V	p.G58V	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN			2	239	+			58					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.173G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950392	0.92660	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.56103	0.48;0.48	5.39	5.39	0.77823	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87771	0.2605	10	0.72032	D	0.01	-19.1625	17.8844	0.88849	0.0:0.0:1.0:0.0	.	58;58	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	V	58	ENSP00000387654:G58V;ENSP00000264441:G58V	ENSP00000264441:G58V	G	+	2	0	PCYOX1	70340056	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.220000	0.95180	2.795000	0.96236	0.655000	0.94253	GGG		PASS	0.483	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		10	231	10	231	---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71361836	71361836	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:71361836C>A	ENST00000244230.2	+	4	1359	c.1007C>A	c.(1006-1008)cCa>cAa	p.P336Q	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.P336Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	336					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.P336Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTTGCTTTACCAGATGATGCG	0.323																																						uc002sht.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1006-1008)CCA>CAA		M-phase phosphoprotein 10							70.0	79.0	76.0					2																	71361836		2203	4295	6498	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71361836C>A	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1007C>A	2.37:g.71361836C>A	ENSP00000244230:p.Pro336Gln					MPHOSPH10_uc010feb.1_Missense_Mutation_p.P336Q	p.P336Q	NM_005791	NP_005782	O00566	MPP10_HUMAN			4	1359	+			336					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1007C>A	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209709	0.39003	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.09445	2.98;2.98	4.34	3.46	0.39613	.	0.418236	0.26355	N	0.024855	T	0.23330	0.0564	L	0.60455	1.87	0.50632	D	0.999882	D;D	0.76494	0.999;0.994	D;D	0.75484	0.986;0.925	T	0.05517	-1.0880	10	0.14656	T	0.56	.	10.686	0.45843	0.0:0.9012:0.0:0.0988	.	336;336	B3KPV5;O00566	.;MPP10_HUMAN	Q	336;196	ENSP00000244230:P336Q;ENSP00000393034:P196Q	ENSP00000244230:P336Q	P	+	2	0	MPHOSPH10	71215344	1.000000	0.71417	0.948000	0.38648	0.312000	0.27988	5.024000	0.64090	1.138000	0.42230	-0.373000	0.07131	CCA		PASS	0.323	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		8	204	8	204	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73680088	73680088	+	Missense_Mutation	SNP	G	G	T	rs567244879		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:73680088G>T	ENST00000264448.6	+	8	6542	c.6431G>T	c.(6430-6432)cGa>cTa	p.R2144L	ALMS1_ENST00000409009.1_Missense_Mutation_p.R2102L|ALMS1_ENST00000377715.1_Missense_Mutation_p.R2144L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2144	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R2144L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTTCACATCGAGAGAAACCA	0.403																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(6436-6438)CGA>CTA		Alstrom syndrome 1							64.0	60.0	61.0					2																	73680088		1847	4083	5930	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680088G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6431G>T	2.37:g.73680088G>T	ENSP00000264448:p.Arg2144Leu					ALMS1_uc002sjf.1_Missense_Mutation_p.R2102L|ALMS1_uc002sjg.2_Missense_Mutation_p.R1532L|ALMS1_uc002sjh.1_Missense_Mutation_p.R1532L	p.R2146L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	6548	+			2144			34 X 47 AA approximate tandem repeat.|33.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6437G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805607	0.16467	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17370	3.17;3.17;2.28	4.08	0.249	0.15531	.	0.245816	0.29417	N	0.012212	T	0.14013	0.0339	L	0.39898	1.24	0.09310	N	1	P;P;P	0.49559	0.925;0.925;0.925	B;P;P	0.44921	0.271;0.464;0.464	T	0.12528	-1.0544	10	0.87932	D	0	.	6.6554	0.22984	0.4082:0.0:0.5918:0.0	.	2144;2102;2144	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2102;2144;2144	ENSP00000386627:R2102L;ENSP00000264448:R2144L;ENSP00000366944:R2144L	ENSP00000264448:R2144L	R	+	2	0	ALMS1	73533596	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.504000	0.22626	0.014000	0.14944	-0.137000	0.14449	CGA		PASS	0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	48	5	48	---	---	---	---
TPRKB	51002	broad.mit.edu	37	2	73961573	73961573	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:73961573G>T	ENST00000272424.5	-	2	230	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	TPRKB_ENST00000318190.7_Missense_Mutation_p.L42M|TPRKB_ENST00000409716.2_Missense_Mutation_p.L42M	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	42					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L42M(1)		lung(2)|ovary(1)|skin(1)	4						GGATTTATCAGTGATCCATCG	0.458																																						uc002sjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)CTG>ATG		TP53RK binding protein							124.0	118.0	120.0					2																	73961573		2203	4300	6503	SO:0001583	missense	51002				protein catabolic process	cytosol|nucleus	protein kinase binding	g.chr2:73961573G>T	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.124C>A	2.37:g.73961573G>T	ENSP00000272424:p.Leu42Met					TPRKB_uc002sjm.2_Missense_Mutation_p.L42M|TPRKB_uc002sjl.2_Intron|TPRKB_uc002sjo.2_Missense_Mutation_p.L42M|TPRKB_uc010yrm.1_Intron	p.L42M	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN			2	235	-			42					D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Missense_Mutation	SNP	ENST00000272424.5	37	c.124C>A	CCDS1927.1	.	.	.	.	.	.	.	.	.	.	G	7.995	0.754204	0.15778	.	.	ENSG00000144034	ENST00000272424;ENST00000409716;ENST00000318190	T;T	0.35048	1.33;1.33	5.29	-1.38	0.09027	.	0.000000	0.64402	D	0.000005	T	0.39172	0.1068	M	0.76002	2.32	0.46609	D	0.999125	B;P	0.52170	0.158;0.951	B;P	0.46796	0.29;0.527	T	0.35325	-0.9793	10	0.51188	T	0.08	.	9.713	0.40256	0.5615:0.0:0.4385:0.0	.	42;42	Q9Y3C4;Q9Y3C4-3	TPRKB_HUMAN;.	M	42	ENSP00000386936:L42M;ENSP00000325398:L42M	ENSP00000272424:L42M	L	-	1	2	TPRKB	73815081	0.474000	0.25886	0.457000	0.27056	0.083000	0.17756	0.712000	0.25779	-0.400000	0.07656	-0.302000	0.09304	CTG		PASS	0.458	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252046.2	NM_016058		6	89	6	89	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74906814	74906814	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:74906814G>T	ENST00000357877.2	+	14	1940	c.1791G>T	c.(1789-1791)gtG>gtT	p.V597V	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Silent_p.V442V	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	597	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.V597V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CATCCTGTGTGTGGCACCAGC	0.592																																						uc002sna.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1789-1791)GTG>GTT		semaphorin W precursor							123.0	112.0	115.0					2																	74906814		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906814G>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1791G>T	2.37:g.74906814G>T						SEMA4F_uc010ffr.1_Silent_p.V209V|SEMA4F_uc002snb.1_Silent_p.V209V|SEMA4F_uc002snc.1_Silent_p.V442V	p.V597V	NM_004263	NP_004254	O95754	SEM4F_HUMAN			14	1902	+			597			Ig-like C2-type.|Extracellular (Potential).		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.1791G>T	CCDS1955.1																																																																																				PASS	0.592	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		6	74	6	74	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746397	77746397	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:77746397C>A	ENST00000409093.1	-	3	934	c.598G>T	c.(598-600)Gca>Tca	p.A200S	LRRTM4_ENST00000409088.3_Missense_Mutation_p.A200S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A201S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A200S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A201S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	200					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.A200S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGCAAATGCATTTCGGGAC	0.438																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(598-600)GCA>TCA		leucine rich repeat transmembrane neuronal 4							65.0	64.0	64.0					2																	77746397		1863	4087	5950	SO:0001583	missense	80059					integral to membrane		g.chr2:77746397C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.598G>T	2.37:g.77746397C>A	ENSP00000386357:p.Ala200Ser					LRRTM4_uc002snq.2_Missense_Mutation_p.A200S|LRRTM4_uc002sns.2_Missense_Mutation_p.A200S|LRRTM4_uc002snt.2_Missense_Mutation_p.A201S	p.A200S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1013	-			200			Extracellular (Potential).|LRR 6.		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.598G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813925	0.32053	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.39085	1.19	0.80722	D	1	B;B;B	0.34349	0.394;0.343;0.45	P;B;B	0.44811	0.461;0.331;0.314	T	0.49082	-0.8976	10	0.16896	T	0.51	.	18.2226	0.89906	0.0:1.0:0.0:0.0	.	201;200;200	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	201;200;200;200;201	ENSP00000387228:A201S;ENSP00000387297:A200S;ENSP00000386357:A200S;ENSP00000386236:A200S;ENSP00000386286:A201S	ENSP00000386236:A200S	A	-	1	0	LRRTM4	77599905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.648000	0.89879	0.563000	0.77884	GCA		PASS	0.438	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		5	63	5	63	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79254970	79254970	+	Missense_Mutation	SNP	G	G	T	rs373995445		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:79254970G>T	ENST00000272324.5	+	5	555	c.371G>T	c.(370-372)aGc>aTc	p.S124I	REG3G_ENST00000409471.1_Missense_Mutation_p.S78I|REG3G_ENST00000393897.2_Missense_Mutation_p.S124I	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.S124I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGTGGAGTAGCACTGATGTG	0.507																																						uc002snw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)AGC>ATC		regenerating islet-derived 3 gamma precursor							154.0	149.0	151.0					2																	79254970		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254970G>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.371G>T	2.37:g.79254970G>T	ENSP00000272324:p.Ser124Ile					REG3G_uc002snx.2_Missense_Mutation_p.S124I|REG3G_uc010ffu.2_Missense_Mutation_p.S78I	p.S124I	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	456	+			124			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.371G>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502019	0.44455	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.19532	2.14;2.14;2.21	4.74	-2.58	0.06228	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.560572	0.17509	N	0.171697	T	0.44767	0.1309	M	0.89287	3.02	0.09310	N	1	D;P	0.69078	0.997;0.897	D;P	0.68483	0.958;0.851	T	0.34279	-0.9835	10	0.87932	D	0	.	10.1128	0.42572	0.6803:0.0:0.3197:0.0	.	78;124	Q3SYE6;Q6UW15	.;REG3G_HUMAN	I	124;124;78	ENSP00000377475:S124I;ENSP00000272324:S124I;ENSP00000387105:S78I	ENSP00000272324:S124I	S	+	2	0	REG3G	79108478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.353000	0.07691	-0.426000	0.07360	-0.140000	0.14226	AGC		PASS	0.507	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		15	88	15	88	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80085138	80085138	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:80085138G>T	ENST00000402739.4	+	3	303		c.e3-1		CTNNA2_ENST00000541047.1_Splice_Site|CTNNA2_ENST00000496558.1_Splice_Site|CTNNA2_ENST00000361291.4_Splice_Site|CTNNA2_ENST00000466387.1_Splice_Site|CTNNA2_ENST00000540488.1_Splice_Site	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						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.?(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTCTTCCAGGTGAGACGAT	0.542																																						uc010ysh.1																			2	Unknown(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.e3-1		catenin, alpha 2 isoform 1							87.0	84.0	85.0					2																	80085138		2025	4181	6206	SO:0001630	splice_region_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.chr2:80085138G>T		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.299-1G>T	2.37:g.80085138G>T						CTNNA2_uc010yse.1_Splice_Site_p.G100_splice|CTNNA2_uc010ysf.1_Splice_Site_p.G100_splice|CTNNA2_uc010ysg.1_Splice_Site_p.G100_splice	p.G100_splice	NM_004389	NP_004380	P26232	CTNA2_HUMAN			3	304	+								B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Splice_Site	SNP	ENST00000402739.4	37	c.299_splice		.	.	.	.	.	.	.	.	.	.	G	28.5	4.927706	0.92389	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNA2	79938646	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.869000	0.99810	2.677000	0.91161	0.655000	0.94253	.		PASS	0.542	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	Intron	13	62	13	62	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80096961	80096961	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:80096961C>A	ENST00000402739.4	+	4	490	c.485C>A	c.(484-486)gCt>gAt	p.A162D	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A162D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A162D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A196D|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A162D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A162D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	162					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.A162D(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCCTGGAAGCTGTCAAAAAT	0.373																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(484-486)GCT>GAT		catenin, alpha 2 isoform 1							95.0	90.0	91.0					2																	80096961		1833	4099	5932	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80096961C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.485C>A	2.37:g.80096961C>A	ENSP00000384638:p.Ala162Asp					CTNNA2_uc010yse.1_Missense_Mutation_p.A162D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A162D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A162D	p.A162D	NM_004389	NP_004380	P26232	CTNA2_HUMAN			4	490	+			162					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.485C>A		.	.	.	.	.	.	.	.	.	.	C	14.83	2.651691	0.47362	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.77	5.77	0.91146	.	0.062562	0.64402	D	0.000007	T	0.21062	0.0507	N	0.02011	-0.69	0.42095	D	0.991314	B;B;B	0.20164	0.042;0.018;0.018	B;B;B	0.28305	0.088;0.053;0.053	T	0.16541	-1.0399	10	0.33141	T	0.24	.	19.9827	0.97334	0.0:1.0:0.0:0.0	.	162;162;162	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	D	162;162;196;162;162;162	ENSP00000418191:A162D;ENSP00000419295:A162D;ENSP00000355398:A196D;ENSP00000384638:A162D;ENSP00000444675:A162D;ENSP00000441705:A162D	ENSP00000355398:A196D	A	+	2	0	CTNNA2	79950469	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.560000	0.60802	2.728000	0.93425	0.655000	0.94253	GCT		PASS	0.373	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		17	75	17	75	---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84784929	84784929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:84784929C>A	ENST00000237449.6	+	10	1681	c.1673C>A	c.(1672-1674)tCg>tAg	p.S558*	DNAH6_ENST00000389394.3_Nonsense_Mutation_p.S558*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.S558*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	558	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S558*(1)|p.S137*(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGCCTGATTCGTATTTTGAT	0.378																																						uc010fgb.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(1672-1674)TCG>TAG		dynein, axonemal, heavy polypeptide 6							154.0	145.0	148.0					2																	84784929		2203	4300	6503	SO:0001587	stop_gained	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784929C>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1673C>A	2.37:g.84784929C>A	ENSP00000237449:p.Ser558*					DNAH6_uc002soo.2_Nonsense_Mutation_p.S137*|DNAH6_uc002sop.2_Nonsense_Mutation_p.S137*	p.S558*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			11	1810	+			558			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	c.1673C>A	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579118	0.96565	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	5.22	2.15	0.27550	.	1.934510	0.02682	N	0.109734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.3815	0.44115	0.1328:0.4944:0.3728:0.0	.	.	.	.	X	558	.	ENSP00000237449:S558X	S	+	2	0	DNAH6	84638440	0.001000	0.12720	0.002000	0.10522	0.854000	0.48673	1.104000	0.31074	0.543000	0.28864	0.655000	0.94253	TCG		PASS	0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		6	141	6	141	---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84784986	84784986	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:84784986G>T	ENST00000237449.6	+	10	1738	c.1730G>T	c.(1729-1731)tGt>tTt	p.C577F	DNAH6_ENST00000389394.3_Missense_Mutation_p.C577F|DNAH6_ENST00000398278.2_Missense_Mutation_p.C577F			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	577	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C577F(1)|p.C156F(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAAAAACCTGTGGAACTGGG	0.353																																						uc010fgb.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1729-1731)TGT>TTT		dynein, axonemal, heavy polypeptide 6							100.0	99.0	99.0					2																	84784986		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784986G>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1730G>T	2.37:g.84784986G>T	ENSP00000237449:p.Cys577Phe					DNAH6_uc002soo.2_Missense_Mutation_p.C156F|DNAH6_uc002sop.2_Missense_Mutation_p.C156F	p.C577F	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			11	1867	+			577			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1730G>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452592	0.43531	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24151	1.87;1.99;1.87	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000024	T	0.46014	0.1371	M	0.68952	2.095	0.40896	D	0.984118	B;D	0.76494	0.434;0.999	B;D	0.69479	0.081;0.964	T	0.35574	-0.9783	10	0.11485	T	0.65	.	17.2596	0.87066	0.0:0.0:1.0:0.0	.	577;156	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	F	577	ENSP00000374045:C577F;ENSP00000381326:C577F;ENSP00000237449:C577F	ENSP00000237449:C577F	C	+	2	0	DNAH6	84638497	1.000000	0.71417	0.993000	0.49108	0.907000	0.53573	6.228000	0.72288	2.363000	0.80096	0.561000	0.74099	TGT		PASS	0.353	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		6	91	6	91	---	---	---	---
CAPG	822	broad.mit.edu	37	2	85628769	85628769	+	Silent	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:85628769G>C	ENST00000409921.1	-	4	300	c.234C>G	c.(232-234)gcC>gcG	p.A78A	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Silent_p.A78A|CAPG_ENST00000409724.1_Silent_p.A78A|CAPG_ENST00000409670.1_Silent_p.A78A			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A78A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CAGCCAGCACGGCACAGGCCC	0.652																																						uc002spl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)GCC>GCG		gelsolin-like capping protein							41.0	42.0	42.0					2																	85628769		2203	4300	6503	SO:0001819	synonymous_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628769G>C	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.234C>G	2.37:g.85628769G>C						CAPG_uc002spm.1_Silent_p.A78A|CAPG_uc010ysq.1_Silent_p.A78A|CAPG_uc010fgi.1_Silent_p.A78A|CAPG_uc010fgj.1_5'UTR	p.A78A	NM_001747	NP_001738	P40121	CAPG_HUMAN			4	484	-			78					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	c.234C>G	CCDS58715.1																																																																																				PASS	0.652	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		4	20	4	20	---	---	---	---
CHMP3	51652	broad.mit.edu	37	2	86756432	86756432	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:86756432C>A	ENST00000263856.4	-	3	323	c.195G>T	c.(193-195)aaG>aaT	p.K65N	RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.K94N|CHMP3_ENST00000439940.2_Missense_Mutation_p.K94N|CHMP3_ENST00000409225.2_De_novo_Start_OutOfFrame|CHMP3_ENST00000409727.1_Missense_Mutation_p.K65N	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	65	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.K65N(1)									TGATCATCTCCTTGGCCAGAA	0.458																																						uc002srj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(193-195)AAG>AAT		vacuolar protein sorting 24 isoform 1							221.0	189.0	200.0					2																	86756432		2203	4300	6503	SO:0001583	missense	51652				cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr2:86756432C>A	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.195G>T	2.37:g.86756432C>A	ENSP00000263856:p.Lys65Asn					VPS24_uc002srk.2_Translation_Start_Site|VPS24_uc002srl.2_Missense_Mutation_p.K65N|VPS24_uc010ytl.1_Missense_Mutation_p.K94N	p.K65N	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN			3	324	-			65			Intramolecular interaction with C- terminus.		A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	c.195G>T	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343486	0.82022	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.92149	-1.35;-2.98;-1.35;-1.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.97130	0.9817	10	0.87932	D	0	-28.6638	13.5674	0.61826	0.0:0.9293:0.0:0.0707	.	94;65;65	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	N	65;65;94;172	ENSP00000263856:K65N;ENSP00000387045:K65N;ENSP00000405575:K94N;ENSP00000392995:K172N	ENSP00000392995:K172N	K	-	3	2	VPS24;RNF103-VPS24	86609943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.594000	0.36697	2.825000	0.97269	0.655000	0.94253	AAG		PASS	0.458	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		7	118	7	118	---	---	---	---
IGKV1D-12	28903	broad.mit.edu	37	2	90199179	90199179	+	RNA	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:90199179A>G	ENST00000390276.2	+	0	521									immunoglobulin kappa variable 1D-12																		TCAACAGGCTAACAGTTTCCC	0.527																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							53.0	69.0	65.0					2																	90199179		1358	3944	5302			0							g.chr2:90199179A>G	X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272		2.37:g.90199179A>G														24		+									RNA	SNP	ENST00000390276.2	37	c.3310A>G																																																																																					PASS	0.527	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323139.2	NG_000833		18	60	18	60	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100029392	100029392	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:100029392G>A	ENST00000258428.3	-	13	2201	c.1973C>T	c.(1972-1974)tCt>tTt	p.S658F	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.S657F	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	658					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.S658F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCAACTTAGATTCCATTGA	0.353								Direct reversal of damage																														uc002tad.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1972-1974)TCT>TTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							75.0	73.0	73.0					2																	100029392		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100029392G>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1973C>T	2.37:g.100029392G>A	ENSP00000258428:p.Ser658Phe					REV1_uc002tac.2_Missense_Mutation_p.S657F	p.S658F	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			13	2185	-			658					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.1973C>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	3.985	-0.005610	0.07773	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.71579	-0.58;-0.58	5.21	4.31	0.51392	.	0.345890	0.34460	N	0.003950	T	0.64382	0.2593	M	0.63843	1.955	0.44562	D	0.997523	B;P	0.39737	0.22;0.685	B;B	0.32090	0.03;0.14	T	0.68375	-0.5425	10	0.59425	D	0.04	.	13.0259	0.58814	0.0:0.0:0.7067:0.2933	.	658;657	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	F	657;658	ENSP00000377091:S657F;ENSP00000258428:S658F	ENSP00000258428:S658F	S	-	2	0	REV1	99395824	1.000000	0.71417	0.994000	0.49952	0.747000	0.42532	2.490000	0.45294	1.281000	0.44480	0.563000	0.77884	TCT		PASS	0.353	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		14	61	14	61	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120703926	120703926	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:120703926G>T	ENST00000263708.2	+	17	2296	c.1525G>T	c.(1525-1527)Ggt>Tgt	p.G509C	PTPN4_ENST00000544261.1_Missense_Mutation_p.G142C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	509					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.G509C(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GCCTAATGGTGGTATTCCACA	0.279																																						uc002tmf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1525-1527)GGT>TGT		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						98.0	105.0	103.0					2																	120703926		2202	4296	6498	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120703926G>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1525G>T	2.37:g.120703926G>T	ENSP00000263708:p.Gly509Cys					PTPN4_uc010flj.1_Missense_Mutation_p.G222C|PTPN4_uc010yyr.1_Missense_Mutation_p.G142C	p.G509C	NM_002830	NP_002821	P29074	PTN4_HUMAN			17	2296	+			509					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1525G>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040419	0.55003	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.72051	-0.62;2.92;0.93	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.109437	0.64402	D	0.000008	T	0.71476	0.3344	L	0.50333	1.59	0.45883	D	0.998731	P	0.50369	0.934	P	0.48166	0.569	T	0.74156	-0.3756	10	0.56958	D	0.05	.	14.8337	0.70166	0.0:0.1436:0.8564:0.0	.	509	P29074	PTN4_HUMAN	C	509;142;135	ENSP00000263708:G509C;ENSP00000445841:G142C;ENSP00000387457:G135C	ENSP00000263708:G509C	G	+	1	0	PTPN4	120420396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.377000	0.73145	2.608000	0.88229	0.655000	0.94253	GGT		PASS	0.279	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			8	150	8	150	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120918470	120918470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:120918470G>T	ENST00000263713.5	+	21	2021	c.1807G>T	c.(1807-1809)Gag>Tag	p.E603*	EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E603*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E603*|EPB41L5_ENST00000488691.1_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	603					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.E603*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGTGTTAAATGAGAATAATGT	0.413																																						uc002tmg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1807-1809)GAG>TAG		erythrocyte membrane protein band 4.1 like 5							134.0	139.0	137.0					2																	120918470		2203	4300	6503	SO:0001587	stop_gained	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120918470G>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1807G>T	2.37:g.120918470G>T	ENSP00000263713:p.Glu603*					EPB41L5_uc010fll.2_Nonsense_Mutation_p.E603*|EPB41L5_uc010flm.2_Nonsense_Mutation_p.E407*	p.E603*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			21	1933	+			603					Q7Z5S1|Q8IZ12|Q9H975	Nonsense_Mutation	SNP	ENST00000263713.5	37	c.1807G>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	38	6.902817	0.97924	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	.	.	.	5.4	5.4	0.78164	.	0.425782	0.21940	N	0.066894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	15.0165	0.71588	0.0:0.0:1.0:0.0	.	.	.	.	X	603	.	ENSP00000263713:E603X	E	+	1	0	EPB41L5	120634940	0.998000	0.40836	0.293000	0.24932	0.045000	0.14185	3.022000	0.49659	2.675000	0.91044	0.655000	0.94253	GAG		PASS	0.413	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		9	148	9	148	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128878864	128878864	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:128878864C>A	ENST00000259253.6	+	10	1112	c.1065C>A	c.(1063-1065)acC>acA	p.T355T	RN7SL206P_ENST00000580933.1_RNA|UGGT1_ENST00000375990.3_Silent_p.T331T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	355					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.T355T(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTTTCCTACCAAAGCCAGGT	0.403																																						uc002tps.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1063-1065)ACC>ACA		UDP-glucose ceramide glucosyltransferase-like 1							111.0	97.0	102.0					2																	128878864		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128878864C>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1065C>A	2.37:g.128878864C>A						UGGT1_uc010fme.1_Silent_p.T230T|UGGT1_uc002tpr.2_Silent_p.T331T	p.T355T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			10	1243	+			355					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.1065C>A	CCDS2154.1																																																																																				PASS	0.403	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		7	52	7	52	---	---	---	---
HNMT	3176	broad.mit.edu	37	2	138722134	138722134	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:138722134C>A	ENST00000280097.3	+	1	255	c.73C>A	c.(73-75)Cat>Aat	p.H25N	HNMT_ENST00000280096.5_Missense_Mutation_p.H25N|HNMT_ENST00000329366.4_Missense_Mutation_p.H25N|HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.H25N	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	25					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.H25N(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GTTTCTCAACCATTCCACGGA	0.458																																						uc002tvc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(73-75)CAT>AAT		histamine N-methyltransferase isoform 1	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						157.0	153.0	154.0					2																	138722134		2203	4300	6503	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138722134C>A		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.73C>A	2.37:g.138722134C>A	ENSP00000280097:p.His25Asn					HNMT_uc002tvd.2_Missense_Mutation_p.H25N|HNMT_uc002tve.2_Missense_Mutation_p.H25N|HNMT_uc002tvf.2_Missense_Mutation_p.H25N	p.H25N	NM_006895	NP_008826	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	2	221	+			25					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.73C>A	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.179270	0.01633	.	.	ENSG00000150540	ENST00000410115;ENST00000329366;ENST00000280097;ENST00000280096	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.23	1.46	0.22682	.	0.618859	0.19592	N	0.110592	T	0.07999	0.0200	N	0.02225	-0.63	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.34775	-0.9815	10	0.12103	T	0.63	-8.4772	13.8014	0.63202	0.4159:0.5841:0.0:0.0	.	25;25;25	P50135-2;Q9BRW6;P50135	.;.;HNMT_HUMAN	N	25	ENSP00000386940:H25N;ENSP00000333259:H25N;ENSP00000280097:H25N;ENSP00000280096:H25N	ENSP00000280096:H25N	H	+	1	0	HNMT	138438604	0.739000	0.28196	0.043000	0.18650	0.295000	0.27426	1.361000	0.34136	0.095000	0.17434	-0.397000	0.06425	CAT		PASS	0.458	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			7	133	7	133	---	---	---	---
HNMT	3176	broad.mit.edu	37	2	138762707	138762707	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:138762707G>T	ENST00000280097.3	+	5	617	c.435G>T	c.(433-435)ctG>ctT	p.L145L	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Silent_p.L145L	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	145					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.L145L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TCTAGATGCTGTATTATGTAA	0.363																																						uc002tvc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(433-435)CTG>CTT		histamine N-methyltransferase isoform 1	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						174.0	167.0	170.0					2																	138762707		2203	4299	6502	SO:0001819	synonymous_variant	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138762707G>T		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.435G>T	2.37:g.138762707G>T						HNMT_uc002tvf.2_Silent_p.L145L	p.L145L	NM_006895	NP_008826	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	6	583	+			145					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Silent	SNP	ENST00000280097.3	37	c.435G>T	CCDS2181.1																																																																																				PASS	0.363	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			7	109	7	109	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665446	141665446	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:141665446C>A	ENST00000389484.3	-	22	4491	c.3520G>T	c.(3520-3522)Gat>Tat	p.D1174Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1174	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D1174Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGCAATACCACAGAGATAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3520-3522)GAT>TAT		low density lipoprotein-related protein 1B							168.0	175.0	173.0					2																	141665446		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665446C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3520+1G>T	2.37:g.141665446C>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.D356Y	p.D1174Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4492	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1174			Extracellular (Potential).|LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3520G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324142	0.81580	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95588	-2.25;-3.75	5.58	5.58	0.84498	.	0.065063	0.64402	U	0.000012	D	0.97604	0.9215	M	0.87180	2.865	0.80722	D	1	B;D	0.69078	0.412;0.997	B;P	0.58013	0.445;0.831	D	0.97669	1.0165	9	.	.	.	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	357;1174	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Y	1174;1112;319	ENSP00000374135:D1174Y;ENSP00000413239:D319Y	.	D	-	1	0	LRP1B	141381916	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.729000	0.84864	2.641000	0.89580	0.585000	0.79938	GAT		PASS	0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	8	144	8	144	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144903215	144903215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:144903215C>A	ENST00000392869.2	-	4	423	c.271G>T	c.(271-273)Gag>Tag	p.E91*	GTDC1_ENST00000392867.3_Nonsense_Mutation_p.E91*|GTDC1_ENST00000344850.4_Nonsense_Mutation_p.E91*|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000409298.1_Nonsense_Mutation_p.E91*|GTDC1_ENST00000542155.1_Nonsense_Mutation_p.E91*|GTDC1_ENST00000409214.1_Nonsense_Mutation_p.E91*|GTDC1_ENST00000241391.5_Nonsense_Mutation_p.E91*	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	91					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.E91*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AACTGGTTCTCGTGAAAATAC	0.418																																						uc002tvp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(271-273)GAG>TAG		glycosyltransferase-like domain containing 1							89.0	90.0	89.0					2																	144903215		2202	4299	6501	SO:0001587	stop_gained	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144903215C>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.271G>T	2.37:g.144903215C>A	ENSP00000376608:p.Glu91*					GTDC1_uc002tvo.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvq.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvr.2_Nonsense_Mutation_p.E91*|GTDC1_uc010fnn.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvs.2_Nonsense_Mutation_p.E59*|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Nonsense_Mutation_p.E91*	p.E91*	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	550	-			91					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Nonsense_Mutation	SNP	ENST00000392869.2	37	c.271G>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	36	5.937469	0.97122	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.4195	20.2786	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000241391:E91X	E	-	1	0	GTDC1	144619685	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.661000	0.83786	2.868000	0.98415	0.557000	0.71058	GAG		PASS	0.418	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		5	61	5	61	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152543961	152543961	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:152543961G>A	ENST00000172853.10	-	27	2756	c.2609C>T	c.(2608-2610)tCc>tTc	p.S870F	NEB_ENST00000603639.1_Missense_Mutation_p.S870F|NEB_ENST00000409198.1_Missense_Mutation_p.S870F|NEB_ENST00000604864.1_Missense_Mutation_p.S870F|NEB_ENST00000397345.3_Missense_Mutation_p.S870F|NEB_ENST00000427231.2_Missense_Mutation_p.S870F			P20929	NEBU_HUMAN	nebulin	870					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S870F(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTCAAGGAGTGCAGCAT	0.438																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2608-2610)TCC>TTC		nebulin isoform 3							243.0	233.0	236.0					2																	152543961		1981	4162	6143	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152543961G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2609C>T	2.37:g.152543961G>A	ENSP00000172853:p.Ser870Phe						p.S870F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	27	2800	-			870			Nebulin 20.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2609C>T		.	.	.	.	.	.	.	.	.	.	G	10.28	1.305437	0.23736	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.54	4.66	0.58398	.	0.184967	0.48767	D	0.000161	T	0.41236	0.1150	L	0.37630	1.12	0.80722	D	1	B	0.26445	0.149	B	0.35353	0.201	T	0.16129	-1.0413	10	0.10377	T	0.69	.	15.3356	0.74250	0.0:0.1407:0.8592:0.0	.	870	P20929	NEBU_HUMAN	F	870	ENSP00000386259:S870F;ENSP00000380505:S870F;ENSP00000416578:S870F;ENSP00000172853:S870F	ENSP00000172853:S870F	S	-	2	0	NEB	152252207	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.539000	0.82063	1.326000	0.45319	0.655000	0.94253	TCC		PASS	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		11	132	11	132	---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153532918	153532918	+	Splice_Site	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:153532918C>G	ENST00000410080.1	-	10	1573		c.e10+1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ACTAAACTTACTCAGCTACAG	0.333																																						uc002tyi.2																			3	Unknown(3)		lung(3)		0						c.e10+1		formin binding protein 3							52.0	48.0	49.0					2																	153532918		1843	4084	5927	SO:0001630	splice_region_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153532918C>G	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1031+1G>C	2.37:g.153532918C>G						PRPF40A_uc002tyh.3_Splice_Site_p.D344_splice|PRPF40A_uc010zcd.1_Splice_Site_p.D291_splice|PRPF40A_uc002tyj.2_Splice_Site_p.D240_splice	p.D371_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN			10	1125	-								O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	SNP	ENST00000410080.1	37	c.1112_splice	CCDS46430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.182745|3.182745	0.57800|0.57800	.|.	.|.	ENSG00000196504|ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856|ENST00000493468	.|.	.|.	.|.	5.49|5.49	4.62|4.62	0.57501|0.57501	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34513	.|0.0900	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.15752	.|-1.0426	.|5	.|0.02654	.|T	.|1	.|.	12.2518|12.2518	0.54601|0.54601	0.0:0.9204:0.0:0.0796|0.0:0.9204:0.0:0.0796	.|.	.|.	.|.	.|.	.|D	-1|346	.|.	.|ENSP00000441656:E346D	.|E	-|-	.|3	.|2	PRPF40A|PRPF40A	153241164|153241164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	4.409000|4.409000	0.59768|0.59768	1.332000|1.332000	0.45431|0.45431	-0.262000|-0.262000	0.10625|0.10625	.|GAG		PASS	0.333	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	Intron	3	9	3	9	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	154801051	154801051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:154801051C>A	ENST00000392825.3	+	3	608	c.41C>A	c.(40-42)tCg>tAg	p.S14*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.S14*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	14					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S14*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTAGCCACTTCGCTGATGTGG	0.418																																						uc002tyr.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(40-42)TCG>TAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							257.0	226.0	237.0					2																	154801051		2203	4300	6503	SO:0001587	stop_gained	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:154801051C>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.41C>A	2.37:g.154801051C>A	ENSP00000376570:p.Ser14*					GALNT13_uc002tyt.3_Nonsense_Mutation_p.S14*	p.S14*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			3	608	+			14			Helical; Signal-anchor for type II membrane protein; (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Nonsense_Mutation	SNP	ENST00000392825.3	37	c.41C>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	42	9.394841	0.99158	.	.	ENSG00000144278	ENST00000392825;ENST00000434213;ENST00000409237	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7929	0.88561	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000376570:S14X	S	+	2	0	GALNT13	154509297	1.000000	0.71417	0.959000	0.39883	0.963000	0.63663	7.748000	0.85085	2.542000	0.85734	0.585000	0.79938	TCG		PASS	0.418	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		6	112	6	112	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163070542	163070542	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:163070542C>A	ENST00000188790.4	-	11	1115	c.908G>T	c.(907-909)cGa>cTa	p.R303L	FAP_ENST00000443424.1_Missense_Mutation_p.R278L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.R303L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAAACATACTCGTTCATCAGT	0.408																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(907-909)CGA>CTA		fibroblast activation protein, alpha subunit							105.0	102.0	103.0					2																	163070542		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070542C>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.908G>T	2.37:g.163070542C>A	ENSP00000188790:p.Arg303Leu					FAP_uc010zct.1_Missense_Mutation_p.R278L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.R270L	p.R303L	NM_004460	NP_004451	Q12884	SEPR_HUMAN			11	1116	-			303			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.908G>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262543	0.95399	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96300	-3.97;1.39	5.53	5.53	0.82687	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.135690	0.49916	D	0.000137	D	0.96216	0.8766	L	0.59912	1.85	0.80722	D	1	P;D;D	0.56287	0.645;0.975;0.975	P;P;P	0.48425	0.495;0.577;0.577	D	0.96073	0.9047	10	0.52906	T	0.07	-19.9316	19.4577	0.94903	0.0:1.0:0.0:0.0	.	278;303;303	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	L	303;278	ENSP00000188790:R303L;ENSP00000411391:R278L	ENSP00000188790:R303L	R	-	2	0	FAP	162778788	1.000000	0.71417	0.840000	0.33206	0.953000	0.61014	7.262000	0.78410	2.607000	0.88179	0.655000	0.94253	CGA		PASS	0.408	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			5	74	5	74	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164591413	164591413	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:164591413C>A	ENST00000333129.3	-	2	339	c.25G>T	c.(25-27)Ggc>Tgc	p.G9C	FIGN_ENST00000482917.1_Intron|FIGN_ENST00000409634.1_Splice_Site_p.A9S	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	9					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.G9C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGACATACCATAAACACTG	0.388																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(25-27)GGC>TGC		fidgetin							111.0	103.0	106.0					2																	164591413		1872	4098	5970	SO:0001630	splice_region_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164591413C>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.25+1G>T	2.37:g.164591413C>A							p.G9C	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			2	336	-			9					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.25G>T	CCDS2221.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.227381|3.227381	0.58668|0.58668	.|.	.|.	ENSG00000182263|ENSG00000182263	ENST00000409634|ENST00000333129	.|T	.|0.37235	.|1.21	6.08|6.08	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.56277|0.56277	0.1974|0.1974	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.55263|0.55263	-0.8168|-0.8168	5|9	.|.	.|.	.|.	-6.2025|-6.2025	15.4792|15.4792	0.75511|0.75511	0.0:0.934:0.0:0.066|0.0:0.934:0.0:0.066	.|.	.|9	.|Q5HY92	.|FIGN_HUMAN	S|C	9|9	.|ENSP00000333836:G9C	.|.	A|G	-|-	1|1	0|0	FIGN|FIGN	164299659|164299659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.294000|7.294000	0.78760|0.78760	1.595000|1.595000	0.50050|0.50050	0.591000|0.591000	0.81541|0.81541	GCA|GGC		PASS	0.388	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	Missense_Mutation	6	75	6	75	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165353980	165353980	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:165353980G>T	ENST00000263915.3	-	10	1663	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	GRB14_ENST00000543549.1_Silent_p.S288S|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	375					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.S375S(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCTACCAGGGAATTCTCTG	0.368																																						uc002ucl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(1123-1125)TCC>TCA		growth factor receptor-bound protein 14							78.0	78.0	78.0					2																	165353980		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353980G>T		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1125C>A	2.37:g.165353980G>T						GRB14_uc010zcv.1_Silent_p.S288S|GRB14_uc002ucm.2_RNA	p.S375S	NM_004490	NP_004481	Q14449	GRB14_HUMAN			10	1666	-			375					B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1125C>A	CCDS2222.1																																																																																				PASS	0.368	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			7	94	7	94	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551734	165551734	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:165551734C>A	ENST00000392717.2	-	13	2400	c.2396G>T	c.(2395-2397)cGa>cTa	p.R799L	COBLL1_ENST00000342193.4_Missense_Mutation_p.R761L|COBLL1_ENST00000375458.2_Missense_Mutation_p.R723L|COBLL1_ENST00000194871.6_Missense_Mutation_p.R828L|COBLL1_ENST00000409184.3_Missense_Mutation_p.R761L			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	799						extracellular vesicular exosome (GO:0070062)		p.R761L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TATATACTCTCGTGTAATTTC	0.358																																						uc010zcw.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2482-2484)CGA>CTA		COBL-like 1							190.0	191.0	191.0					2																	165551734		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551734C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2396G>T	2.37:g.165551734C>A	ENSP00000376478:p.Arg799Leu					COBLL1_uc002ucp.2_Missense_Mutation_p.R761L|COBLL1_uc002ucq.2_Missense_Mutation_p.R723L|COBLL1_uc010zcx.1_Missense_Mutation_p.R769L|COBLL1_uc002ucn.2_Missense_Mutation_p.R189L|COBLL1_uc002uco.2_Missense_Mutation_p.R492L	p.R828L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			15	2607	-			799					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2483G>T		.	.	.	.	.	.	.	.	.	.	C	27.1	4.800771	0.90538	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78400	0.4277	L	0.59436	1.845	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77059	-0.2728	9	0.59425	D	0.04	-25.1511	20.5753	0.99366	0.0:1.0:0.0:0.0	.	799;828;761	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	L	723;761;761;799;828	.	ENSP00000194871:R828L	R	-	2	0	COBLL1	165259980	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.666000	0.74446	2.868000	0.98415	0.557000	0.71058	CGA		PASS	0.358	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		6	147	6	147	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166866246	166866246	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:166866246G>T	ENST00000303395.4	-	20	3984	c.3985C>A	c.(3985-3987)Cga>Aga	p.R1329R	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1301R|SCN1A_ENST00000375405.3_Silent_p.R1318R|SCN1A_ENST00000423058.2_Silent_p.R1329R|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1329					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1318R(1)|p.R1329R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCAAATCGAGATAAGGCT	0.358																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3952-3954)CGA>AGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						78.0	78.0	78.0					2																	166866246		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866246G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3985C>A	2.37:g.166866246G>T						SCN1A_uc002udo.3_Silent_p.R1198R|SCN1A_uc010fpk.2_Silent_p.R1170R	p.R1318R	NM_006920	NP_008851	P35498	SCN1A_HUMAN			20	3970	-			1329			Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3952C>A	CCDS54413.1																																																																																				PASS	0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	68	5	68	---	---	---	---
G6PC2	57818	broad.mit.edu	37	2	169764369	169764369	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:169764369G>T	ENST00000375363.3	+	5	940	c.848G>T	c.(847-849)cGa>cTa	p.R283L	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	283					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)	p.R283L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CTGAGCTGCCGAGGGGGAAAT	0.517																																						uc002uem.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(847-849)CGA>CTA		islet-specific glucose-6-phosphatase-related							98.0	95.0	96.0					2																	169764369		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764369G>T	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.848G>T	2.37:g.169764369G>T	ENSP00000364512:p.Arg283Leu					G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.R167L	p.R283L	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			5	940	+			283			Cytoplasmic (Potential).		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.848G>T	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278355	0.23307	.	.	ENSG00000152254	ENST00000375363	T	0.76968	-1.06	5.76	1.61	0.23674	.	0.643479	0.13090	N	0.414631	T	0.66684	0.2814	L	0.40543	1.245	0.45118	D	0.99813	B	0.28082	0.2	B	0.25987	0.065	T	0.54662	-0.8260	10	0.25751	T	0.34	-15.8588	9.9602	0.41691	0.4331:0.0:0.5669:0.0	.	283	Q9NQR9	G6PC2_HUMAN	L	283	ENSP00000364512:R283L	ENSP00000364512:R283L	R	+	2	0	G6PC2	169472615	0.401000	0.25303	0.928000	0.36995	0.086000	0.17979	1.060000	0.30530	0.273000	0.22049	0.655000	0.94253	CGA		PASS	0.517	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		5	50	5	50	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170007453	170007453	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:170007453G>A	ENST00000263816.3	-	68	12830	c.12545C>T	c.(12544-12546)aCt>aTt	p.T4182I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4182					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.T4182I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTCCAGGTCAGTGGAAATCAG	0.433																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12544-12546)ACT>ATT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						159.0	143.0	148.0					2																	170007453		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170007453G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12545C>T	2.37:g.170007453G>A	ENSP00000263816:p.Thr4182Ile						p.T4182I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	68	12758	-			4182			Extracellular (Potential).|LDL-receptor class B 35.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12545C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202851	0.38905	.	.	ENSG00000081479	ENST00000263816	D	0.93659	-3.26	5.86	3.94	0.45596	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.201201	0.51477	D	0.000091	D	0.96093	0.8727	M	0.86178	2.8	0.80722	D	1	D	0.60160	0.987	P	0.62298	0.9	D	0.95906	0.8919	10	0.51188	T	0.08	.	12.8699	0.57958	0.0:0.1246:0.7458:0.1296	.	4182	P98164	LRP2_HUMAN	I	4182	ENSP00000263816:T4182I	ENSP00000263816:T4182I	T	-	2	0	LRP2	169715699	1.000000	0.71417	0.006000	0.13384	0.140000	0.21249	3.811000	0.55620	1.413000	0.46997	0.655000	0.94253	ACT		PASS	0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		15	75	15	75	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170070377	170070377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:170070377C>A	ENST00000263816.3	-	36	6115	c.5830G>T	c.(5830-5832)Gaa>Taa	p.E1944*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1944					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E1944*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTCCTCTTTCAATCTAAAGG	0.348																																						uc002ues.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(5830-5832)GAA>TAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						49.0	48.0	48.0					2																	170070377		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070377C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5830G>T	2.37:g.170070377C>A	ENSP00000263816:p.Glu1944*						p.E1944*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6043	-			1944			LDL-receptor class B 18.|Extracellular (Potential).		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.5830G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	49	15.524964	0.99836	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	1944	.	ENSP00000263816:E1944X	E	-	1	0	LRP2	169778623	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.625000	0.83145	2.831000	0.97527	0.650000	0.86243	GAA		PASS	0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	31	5	31	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171509574	171509574	+	Silent	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:171509574A>T	ENST00000408978.4	+	35	4112	c.3969A>T	c.(3967-3969)tcA>tcT	p.S1323S	MYO3B_ENST00000409044.3_Silent_p.S1296S|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.S1332S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1323					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S1323S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAACAACTCAGCCCACCCTT	0.408																																						uc002ufy.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(3967-3969)TCA>TCT		myosin IIIB isoform 2							153.0	148.0	149.0					2																	171509574		1863	4107	5970	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171509574A>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3969A>T	2.37:g.171509574A>T						MYO3B_uc002ufz.2_Silent_p.S1296S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron	p.S1323S	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			35	4112	+			1323					B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3969A>T	CCDS42773.1																																																																																				PASS	0.408	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			12	69	12	69	---	---	---	---
HOXD10	3236	broad.mit.edu	37	2	176981715	176981715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:176981715G>T	ENST00000249501.4	+	1	409	c.154G>T	c.(154-156)Gga>Tga	p.G52*	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	52					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G52*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCAAACCTGTGGACTGCTCCC	0.493																																						uc002ukj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(154-156)GGA>TGA		homeobox D10							110.0	111.0	111.0					2																	176981715		2203	4300	6503	SO:0001587	stop_gained	3236					nucleus	sequence-specific DNA binding	g.chr2:176981715G>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.154G>T	2.37:g.176981715G>T	ENSP00000249501:p.Gly52*						p.G52*	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	224	+			52					Q6NT10	Nonsense_Mutation	SNP	ENST00000249501.4	37	c.154G>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	37	6.418922	0.97550	.	.	ENSG00000128710	ENST00000249501	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7484	0.96259	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000249501:G52X	G	+	1	0	HOXD10	176689961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.758000	0.94735	0.655000	0.94253	GGA		PASS	0.493	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			6	70	6	70	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179259110	179259110	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179259110C>A	ENST00000190611.4	+	24	3020	c.2644C>A	c.(2644-2646)Cgg>Agg	p.R882R	OSBPL6_ENST00000409045.3_Silent_p.R851R|OSBPL6_ENST00000315022.2_Silent_p.R886R|OSBPL6_ENST00000409631.1_Silent_p.R846R|OSBPL6_ENST00000392505.2_Silent_p.R907R|OSBPL6_ENST00000359685.3_Silent_p.R846R	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	882					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R882R(2)|p.R907R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCAGAGATCTCGGAGACGATA	0.353																																						uc002ulx.2																			4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(2644-2646)CGG>AGG		oxysterol-binding protein-like protein 6 isoform							111.0	125.0	121.0					2																	179259110		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179259110C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2644C>A	2.37:g.179259110C>A						OSBPL6_uc002uly.2_Silent_p.R907R|OSBPL6_uc010zfe.1_Silent_p.R851R|OSBPL6_uc002ulz.2_Silent_p.R846R|OSBPL6_uc002uma.2_Silent_p.R886R	p.R882R	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		24	3022	+			882					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.2644C>A	CCDS2277.1																																																																																				PASS	0.353	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		6	139	6	139	---	---	---	---
PRKRA	8575	broad.mit.edu	37	2	179315083	179315083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179315083C>A	ENST00000325748.4	-	2	321	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	DFNB59_ENST00000375129.4_5'Flank|PRKRA_ENST00000432031.2_Nonsense_Mutation_p.E30*|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000487082.1_Nonsense_Mutation_p.E16*|DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000470200.1_5'UTR	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	41	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E41*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATGCCGTATTCGTGTAATACC	0.433																																					Melanoma(200;68 3001 23825 48764)	uc002umf.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(121-123)GAA>TAA		protein kinase, interferon-inducible double							270.0	293.0	285.0					2																	179315083		2203	4300	6503	SO:0001587	stop_gained	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179315083C>A	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.121G>T	2.37:g.179315083C>A	ENSP00000318176:p.Glu41*					PRKRA_uc002umd.2_Nonsense_Mutation_p.E16*|PRKRA_uc002ume.2_Nonsense_Mutation_p.E30*|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank	p.E41*	NM_003690	NP_003681	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		2	322	-			41			Sufficient for self-association and interaction with TARBP2.|DRBM 1.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Nonsense_Mutation	SNP	ENST00000325748.4	37	c.121G>T	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	36	5.891973	0.97074	.	.	ENSG00000180228	ENST00000325748;ENST00000487082;ENST00000432031;ENST00000457633	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7742	0.91904	0.0:1.0:0.0:0.0	.	.	.	.	X	41;16;30;30	.	ENSP00000318176:E41X	E	-	1	0	PRKRA	179023329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.950000	0.70265	2.733000	0.93635	0.655000	0.94253	GAA		PASS	0.433	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		8	207	8	207	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179400362	179400362	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179400362C>A	ENST00000591111.1	-	308	96281	c.96057G>T	c.(96055-96057)gaG>gaT	p.E32019D	TTN_ENST00000342175.6_Missense_Mutation_p.E24787D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31092D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24720D|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24595D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33660D|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32019	Ig-like 142.				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.E24595D(1)|p.E31090D(1)|p.E24787D(1)|p.E24720D(1)|p.E31092D(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)			CATCTTTTCTCTCTACCCCAT	0.433																																						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.(93274-93276)GAG>GAT		titin isoform N2-A							147.0	148.0	148.0					2																	179400362		1932	4130	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400362C>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.96057G>T	2.37:g.179400362C>A	ENSP00000465570:p.Glu32019Asp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24787D|TTN_uc010zfi.1_Missense_Mutation_p.E24720D|TTN_uc010zfj.1_Missense_Mutation_p.E24595D	p.E31092D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	93500	-			32019					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.93276G>T		.	.	.	.	.	.	.	.	.	.	C	8.966	0.971679	0.18736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.26	3.46	0.39613	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50582	0.1624	L	0.31578	0.945	0.39466	D	0.967651	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.49082	-0.8976	9	0.87932	D	0	.	5.6427	0.17572	0.0:0.5659:0.1877:0.2464	.	24595;24720;24787;32019	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	31092;24595;24787;24720;24592	ENSP00000343764:E31092D;ENSP00000434586:E24595D;ENSP00000340554:E24787D;ENSP00000352154:E24720D	ENSP00000340554:E24787D	E	-	3	2	TTN	179108608	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	0.606000	0.24194	0.715000	0.32103	0.460000	0.39030	GAG		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	141	10	141	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179432907	179432907	+	Silent	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179432907A>T	ENST00000591111.1	-	276	73253	c.73029T>A	c.(73027-73029)gcT>gcA	p.A24343A	TTN_ENST00000342175.6_Silent_p.A17111A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A23416A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A17044A|TTN_ENST00000460472.2_Silent_p.A16919A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.A25984A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24343	Fibronectin type-III 76. {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.A23416A(1)|p.A17111A(1)|p.A16919A(1)|p.A23414A(1)|p.A17044A(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)			AGGGATATTGAGCTACAATTG	0.423																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(70246-70248)GCT>GCA		titin isoform N2-A							169.0	164.0	166.0					2																	179432907		1888	4118	6006	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432907A>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.73029T>A	2.37:g.179432907A>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A17111A|TTN_uc010zfi.1_Silent_p.A17044A|TTN_uc010zfj.1_Silent_p.A16919A	p.A23416A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70472	-			24343					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.70248T>A																																																																																					PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	129	33	129	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179458825	179458825	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179458825C>A	ENST00000591111.1	-	247	53596	c.53372G>T	c.(53371-53373)cGc>cTc	p.R17791L	TTN_ENST00000342175.6_Missense_Mutation_p.R10559L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16864L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10492L|TTN_ENST00000460472.2_Missense_Mutation_p.R10367L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19432L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17791	Ig-like 104.				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.R10367L(1)|p.R16864L(1)|p.R10559L(1)|p.R16862L(1)|p.R10492L(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)			TATATGAGTGCGATCATCTTC	0.463																																						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.(50590-50592)CGC>CTC		titin isoform N2-A							145.0	138.0	140.0					2																	179458825		1994	4186	6180	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458825C>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.53372G>T	2.37:g.179458825C>A	ENSP00000465570:p.Arg17791Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10559L|TTN_uc010zfi.1_Missense_Mutation_p.R10492L|TTN_uc010zfj.1_Missense_Mutation_p.R10367L	p.R16864L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50815	-			17791					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.50591G>T		.	.	.	.	.	.	.	.	.	.	C	16.17	3.046800	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61148	0.2324	M	0.85197	2.74	0.40844	D	0.983697	B;B;B;B	0.33318	0.408;0.408;0.408;0.408	B;B;B;B	0.36666	0.23;0.23;0.23;0.165	T	0.64964	-0.6283	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10367;10492;10559;17791	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16864;10367;10559;10492;10365	ENSP00000343764:R16864L;ENSP00000434586:R10367L;ENSP00000340554:R10559L;ENSP00000352154:R10492L	ENSP00000340554:R10559L	R	-	2	0	TTN	179167071	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	5.900000	0.69853	2.941000	0.99782	0.655000	0.94253	CGC		PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	89	5	89	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463947	179463947	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179463947C>A	ENST00000591111.1	-	240	51874	c.51650G>T	c.(51649-51651)cGa>cTa	p.R17217L	TTN_ENST00000342175.6_Missense_Mutation_p.R9985L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16290L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9918L|TTN_ENST00000460472.2_Missense_Mutation_p.R9793L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18858L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17217	Fibronectin type-III 24. {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.R9793L(1)|p.R9985L(1)|p.R16288L(1)|p.R16290L(1)|p.R9918L(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)			GGCCATGATTCGGAATACATA	0.433																																						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.(48868-48870)CGA>CTA		titin isoform N2-A							225.0	217.0	219.0					2																	179463947		1891	4106	5997	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463947C>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.51650G>T	2.37:g.179463947C>A	ENSP00000465570:p.Arg17217Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9985L|TTN_uc010zfi.1_Missense_Mutation_p.R9918L|TTN_uc010zfj.1_Missense_Mutation_p.R9793L	p.R16290L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	49093	-			17217					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.48869G>T		.	.	.	.	.	.	.	.	.	.	C	15.37	2.814627	0.50527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.98	5.11	0.69529	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78007	0.4216	M	0.91510	3.215	0.46654	D	0.999142	D;D;D;D	0.56521	0.976;0.976;0.976;0.976	P;P;P;P	0.57960	0.83;0.83;0.83;0.83	D	0.84034	0.0361	9	0.87932	D	0	.	15.367	0.74531	0.0:0.9331:0.0:0.0669	.	9793;9918;9985;17217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16290;9793;9985;9918;9791	ENSP00000343764:R16290L;ENSP00000434586:R9793L;ENSP00000340554:R9985L;ENSP00000352154:R9918L	ENSP00000340554:R9985L	R	-	2	0	TTN	179172192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	1.543000	0.49345	0.650000	0.86243	CGA		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	225	7	225	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179468687	179468687	+	Missense_Mutation	SNP	G	G	T	rs372447571		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179468687G>T	ENST00000591111.1	-	232	50028	c.49804C>A	c.(49804-49806)Cag>Aag	p.Q16602K	TTN_ENST00000342175.6_Missense_Mutation_p.Q9370K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q15675K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q9303K|TTN_ENST00000460472.2_Missense_Mutation_p.Q9178K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q18243K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16602	Fibronectin type-III 20. {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.Q15675K(2)|p.Q9303K(1)|p.Q9370K(1)|p.Q9178K(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)			GCTCTGAACTGGTATTTAACG	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.(47023-47025)CAG>AAG		titin isoform N2-A							158.0	154.0	155.0					2																	179468687		1914	4137	6051	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468687G>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.49804C>A	2.37:g.179468687G>T	ENSP00000465570:p.Gln16602Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q9370K|TTN_uc010zfi.1_Missense_Mutation_p.Q9303K|TTN_uc010zfj.1_Missense_Mutation_p.Q9178K	p.Q15675K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47247	-			16602					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.47023C>A		.	.	.	.	.	.	.	.	.	.	G	13.30	2.196472	0.38806	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47563	0.1452	N	0.13235	0.315	0.47476	D	0.999437	P;P;P;P	0.48407	0.835;0.835;0.835;0.91	P;P;P;P	0.46685	0.524;0.524;0.524;0.468	T	0.52990	-0.8501	9	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	9178;9303;9370;16602	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15675;9178;9370;9303;9178	ENSP00000343764:Q15675K;ENSP00000434586:Q9178K;ENSP00000340554:Q9370K;ENSP00000352154:Q9303K	ENSP00000340554:Q9370K	Q	-	1	0	TTN	179176932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.352000	0.66028	2.880000	0.98712	0.650000	0.86243	CAG		PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	133	8	133	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179484438	179484438	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179484438G>T	ENST00000591111.1	-	200	41907	c.41683C>A	c.(41683-41685)Cta>Ata	p.L13895I	TTN_ENST00000342175.6_Missense_Mutation_p.L6663I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L12968I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L6596I|TTN_ENST00000460472.2_Missense_Mutation_p.L6471I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000589042.1_Missense_Mutation_p.L15536I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13895					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.L12968I(2)|p.L6663I(1)|p.L6596I(1)|p.L6471I(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)			CAAATCTGTAGTCGATGTATC	0.423																																						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.(38902-38904)CTA>ATA		titin isoform N2-A							220.0	217.0	218.0					2																	179484438		1905	4111	6016	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484438G>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.41683C>A	2.37:g.179484438G>T	ENSP00000465570:p.Leu13895Ile					TTN_uc010zfh.1_Missense_Mutation_p.L6663I|TTN_uc010zfi.1_Missense_Mutation_p.L6596I|TTN_uc010zfj.1_Missense_Mutation_p.L6471I	p.L12968I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		199	39126	-			13895					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.38902C>A		.	.	.	.	.	.	.	.	.	.	G	11.90	1.775562	0.31411	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.79	3.68	0.42216	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95589	0.8566	M	0.88241	2.94	0.43287	D	0.99526	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96257	0.9188	9	0.87932	D	0	.	13.6618	0.62372	0.1461:0.0:0.8539:0.0	.	6471;6596;6663;13895	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	12968;6471;6663;6596;6471	ENSP00000343764:L12968I;ENSP00000434586:L6471I;ENSP00000340554:L6663I;ENSP00000352154:L6596I	ENSP00000340554:L6663I	L	-	1	2	TTN	179192683	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	4.066000	0.57520	1.448000	0.47680	0.655000	0.94253	CTA		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	149	7	149	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179545846	179545846	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:179545846G>T	ENST00000591111.1	-	136	32573	c.32349C>A	c.(32347-32349)acC>acA	p.T10783T	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T9856T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.T11100T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	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.T9856T(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)			TTTCACGTTTGGTAATTGAAA	0.328																																						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.(29566-29568)ACC>ACA		titin isoform N2-A							86.0	82.0	83.0					2																	179545846		1803	4073	5876	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179545846G>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.32349C>A	2.37:g.179545846G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T6517T|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.T9856T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		135	29792	-			10783					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.29568C>A																																																																																					PASS	0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	69	6	69	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801162	185801162	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:185801162C>G	ENST00000302277.6	+	4	1633	c.1039C>G	c.(1039-1041)Cct>Gct	p.P347A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	347							metal ion binding (GO:0046872)	p.P347A(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAGACATACCTGTTAGTGG	0.353																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1039-1041)CCT>GCT		zinc finger protein 804A							52.0	48.0	50.0					2																	185801162		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801162C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1039C>G	2.37:g.185801162C>G	ENSP00000303252:p.Pro347Ala						p.P347A	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1633	+			347					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1039C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	8.117	0.780067	0.16120	.	.	ENSG00000170396	ENST00000302277	T	0.54479	0.57	5.57	-0.239	0.13050	.	0.583164	0.16525	N	0.210640	T	0.46171	0.1379	M	0.61703	1.905	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47560	-0.9108	10	0.72032	D	0.01	-2.0666	9.2814	0.37731	0.0:0.5343:0.325:0.1407	.	347	Q7Z570	Z804A_HUMAN	A	347	ENSP00000303252:P347A	ENSP00000303252:P347A	P	+	1	0	ZNF804A	185509407	0.000000	0.05858	0.001000	0.08648	0.800000	0.45204	-0.257000	0.08745	0.012000	0.14892	0.591000	0.81541	CCT		PASS	0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		16	38	16	38	---	---	---	---
TFPI	7035	broad.mit.edu	37	2	188361711	188361711	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:188361711G>A	ENST00000233156.3	-	3	510	c.216C>T	c.(214-216)ttC>ttT	p.F72F	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Silent_p.F72F|TFPI_ENST00000339091.4_Silent_p.F72F|TFPI_ENST00000392365.1_Silent_p.F72F	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	72	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F72F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TGAAAATATTGAAGAAAAATC	0.368																																						uc002upx.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(214-216)TTC>TTT		tissue factor pathway inhibitor isoform a	Coagulation factor VIIa(DB00036)						78.0	79.0	79.0					2																	188361711		2203	4300	6503	SO:0001819	synonymous_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188361711G>A		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.216C>T	2.37:g.188361711G>A						TFPI_uc002upy.2_Silent_p.F72F|TFPI_uc002upz.2_Silent_p.F68F|TFPI_uc002uqa.2_Silent_p.F72F|TFPI_uc002uqb.2_Silent_p.F72F	p.F72F	NM_006287	NP_006278	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		3	249	-			72			BPTI/Kunitz inhibitor 1.		O95103|Q53TS4	Silent	SNP	ENST00000233156.3	37	c.216C>T	CCDS2294.1																																																																																				PASS	0.368	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		6	56	6	56	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191849039	191849039	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:191849039G>T	ENST00000361099.3	-	16	1731	c.1344C>A	c.(1342-1344)ctC>ctA	p.L448L	STAT1_ENST00000392323.2_Silent_p.L450L|STAT1_ENST00000392322.3_Silent_p.L448L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L448L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	448					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.L448L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GTCTTACCTCGAGGTCAATTA	0.378																																						uc002usj.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1342-1344)CTC>CTA		signal transducer and activator of transcription	Fludarabine(DB01073)						63.0	67.0	65.0					2																	191849039		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191849039G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1344C>A	2.37:g.191849039G>T						STAT1_uc010fse.1_Silent_p.L448L|STAT1_uc002usk.2_Silent_p.L448L|STAT1_uc002usl.2_Silent_p.L450L|STAT1_uc010fsf.1_Silent_p.L260L	p.L448L	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		16	1732	-			448					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1344C>A	CCDS2309.1																																																																																				PASS	0.378	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		5	134	5	134	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191934480	191934480	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:191934480G>T	ENST00000392320.2	-	6	797	c.483C>A	c.(481-483)acC>acA	p.T161T	STAT4_ENST00000358470.4_Silent_p.T161T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	161					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T161T(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CTAAGTATTTGGTATCTTGTT	0.299																																						uc002usm.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(481-483)ACC>ACA		signal transducer and activator of transcription							167.0	161.0	163.0					2																	191934480		2202	4299	6501	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191934480G>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.483C>A	2.37:g.191934480G>T						STAT4_uc002usn.1_Silent_p.T161T|STAT4_uc010zgk.1_Silent_p.T6T|STAT4_uc002uso.2_Silent_p.T161T	p.T161T	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		6	737	-			161					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.483C>A	CCDS2310.1																																																																																				PASS	0.299	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		7	102	7	102	---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192228559	192228559	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:192228559C>A	ENST00000392318.3	+	10	1118	c.871C>A	c.(871-873)Cga>Aga	p.R291R	MYO1B_ENST00000392316.1_Silent_p.R291R|MYO1B_ENST00000339514.4_Silent_p.R291R|MYO1B_ENST00000304164.4_Silent_p.R291R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	291	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R291R(2)|p.R291*(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCCCGAATCTCGAGTGAATGG	0.438																																						uc010fsg.2																			3	Substitution - coding silent(2)|Substitution - Nonsense(1)		lung(2)|large_intestine(1)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(871-873)CGA>AGA		myosin IB isoform 1							132.0	121.0	125.0					2																	192228559		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192228559C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.871C>A	2.37:g.192228559C>A						MYO1B_uc002usq.2_Silent_p.R291R|MYO1B_uc002usr.2_Silent_p.R291R|MYO1B_uc002uss.1_Silent_p.R291R	p.R291R	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		10	1126	+			291			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.871C>A	CCDS46477.1																																																																																				PASS	0.438	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		5	91	5	91	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196822072	196822072	+	Silent	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:196822072T>A	ENST00000312428.6	-	19	3091	c.2991A>T	c.(2989-2991)ccA>ccT	p.P997P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	997	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.P997P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACATAATGTCTGGAGAGCTGA	0.468																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(2989-2991)CCA>CCT		dynein, axonemal, heavy chain 7							89.0	83.0	85.0					2																	196822072		1886	4115	6001	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196822072T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2991A>T	2.37:g.196822072T>A							p.P997P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			19	3092	-			997			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.2991A>T	CCDS42794.1																																																																																				PASS	0.468	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		13	47	13	47	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197085593	197085593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:197085593C>A	ENST00000260983.3	-	25	4401	c.4219G>T	c.(4219-4221)Gag>Tag	p.E1407*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.E1051*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1407	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1407*(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACCATCCTCTCGATGTACTCC	0.438																																						uc002utm.1																			1	Substitution - Nonsense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(4219-4221)GAG>TAG		HECT, C2 and WW domain containing E3 ubiquitin							306.0	257.0	273.0					2																	197085593		2203	4300	6503	SO:0001587	stop_gained	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197085593C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4219G>T	2.37:g.197085593C>A	ENSP00000260983:p.Glu1407*					HECW2_uc002utl.1_Nonsense_Mutation_p.E1051*	p.E1407*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			25	4402	-			1407			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	ENST00000260983.3	37	c.4219G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	45	11.924360	0.99618	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.6756	0.91528	0.0:1.0:0.0:0.0	.	.	.	.	X	1051;1407	.	ENSP00000260983:E1407X	E	-	1	0	HECW2	196793838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.643000	0.89663	0.650000	0.86243	GAG		PASS	0.438	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	125	5	125	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950016	198950016	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:198950016G>T	ENST00000428675.1	+	2	2173	c.1775G>T	c.(1774-1776)tGt>tTt	p.C592F	PLCL1_ENST00000437704.2_Missense_Mutation_p.C494F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	592	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.C592F(1)|p.C494F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTGTCTATTTGTAAATCTGTT	0.403																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1774-1776)TGT>TTT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						74.0	77.0	76.0					2																	198950016		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950016G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1775G>T	2.37:g.198950016G>T	ENSP00000402861:p.Cys592Phe					PLCL1_uc002uuv.3_Missense_Mutation_p.C513F	p.C592F	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2066	+			592			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1775G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759292	0.49468	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.67698	-0.28;-0.28	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000001	T	0.78761	0.4334	M	0.77616	2.38	0.80722	D	1	P;P	0.40660	0.726;0.726	P;P	0.51297	0.665;0.519	T	0.77109	-0.2709	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	592;518	Q15111;B4DYZ4	PLCL1_HUMAN;.	F	592;494	ENSP00000402861:C592F;ENSP00000414138:C494F	.	C	+	2	0	PLCL1	198658261	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	TGT		PASS	0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		13	48	13	48	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352462	202352462	+	Missense_Mutation	SNP	C	C	A	rs74717115	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:202352462C>A	ENST00000286195.3	-	15	1789	c.1745G>T	c.(1744-1746)cGa>cTa	p.R582L	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.R1779L|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	582								p.R1779L(1)|p.R582L(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GTAGCTTTCTCGTTGCTTGTT	0.383																																						uc002uye.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1744-1746)CGA>CTA		amyotrophic lateral sclerosis 2 (juvenile)							342.0	327.0	332.0					2																	202352462		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202352462C>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1745G>T	2.37:g.202352462C>A	ENSP00000286195:p.Arg582Leu					ALS2CR11_uc002uyf.2_Missense_Mutation_p.R1779L|ALS2CR11_uc010fti.2_3'UTR	p.R582L	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			15	1793	-			582					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.1745G>T	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	9.144	1.014633	0.19355	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	T;T	0.18810	2.19;2.19	4.63	-0.0772	0.13720	.	0.523346	0.14474	N	0.317342	T	0.07863	0.0197	N	0.14661	0.345	0.09310	N	1	B;B	0.32573	0.109;0.376	B;B	0.27170	0.046;0.077	T	0.30765	-0.9967	10	0.15952	T	0.53	.	3.0769	0.06249	0.2023:0.4277:0.0:0.37	.	1779;582	E9PGG4;Q53TS8	.;AL2SA_HUMAN	L	582;1779	ENSP00000286195:R582L;ENSP00000409937:R1779L	ENSP00000286195:R582L	R	-	2	0	ALS2CR11	202060707	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.049000	0.11924	0.115000	0.18071	-0.157000	0.13467	CGA		PASS	0.383	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	260	8	260	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202593846	202593846	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:202593846G>T	ENST00000264276.6	-	14	3013	c.2641C>A	c.(2641-2643)Cat>Aat	p.H881N	ALS2_ENST00000457679.2_Missense_Mutation_p.H193N	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	881	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.H881N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGCCGAGATGGAGAGCAAGA	0.433																																						uc002uyo.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(2641-2643)CAT>AAT		alsin isoform 1							113.0	107.0	109.0					2																	202593846		1851	4098	5949	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202593846G>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2641C>A	2.37:g.202593846G>T	ENSP00000264276:p.His881Asn					ALS2_uc002uyp.3_Missense_Mutation_p.H881N|ALS2_uc010ftl.2_RNA	p.H881N	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			14	2997	-			881			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2641C>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924789	0.73213	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.77489	0.43;-1.1	5.79	5.79	0.91817	Dbl homology (DH) domain (3);	0.116020	0.64402	D	0.000009	T	0.68988	0.3061	N	0.19112	0.55	0.58432	D	0.999995	P;B	0.44877	0.845;0.27	B;B	0.41135	0.317;0.348	T	0.69232	-0.5199	10	0.35671	T	0.21	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	881;881	Q6IQ41;Q96Q42	.;ALS2_HUMAN	N	881;193	ENSP00000264276:H881N;ENSP00000394823:H193N	ENSP00000264276:H881N	H	-	1	0	ALS2	202302091	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.454000	0.97621	2.753000	0.94483	0.557000	0.71058	CAT		PASS	0.433	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		6	84	6	84	---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208440037	208440037	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:208440037G>T	ENST00000432329.2	+	7	840	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	CREB1_ENST00000430624.1_Missense_Mutation_p.G183C|CREB1_ENST00000353267.3_Missense_Mutation_p.G183C|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000536726.1_Missense_Mutation_p.G183C|CREB1_ENST00000374397.4_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	197					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.G197C(1)	EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	GGCTAACAATGGTACCGATGG	0.438			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	uc002vcc.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		clear cell sarcoma|angiomatoid fibrous histiocytoma	EWSR1/CREB1(42)	1	Substitution - Missense(1)		lung(1)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44						c.(589-591)GGT>TGT		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						131.0	123.0	126.0					2																	208440037		2203	4300	6503	SO:0001583	missense	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208440037G>T	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.589G>T	2.37:g.208440037G>T	ENSP00000387699:p.Gly197Cys					CREB1_uc010ziz.1_Missense_Mutation_p.G181C|CREB1_uc002vcd.2_Missense_Mutation_p.G183C|CREB1_uc010zja.1_RNA	p.G197C	NM_134442	NP_604391	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	7	840	+			197					P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	ENST00000432329.2	37	c.589G>T	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094978	0.94197	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000536726;ENST00000448277;ENST00000455757	T;T;T;T;T;T	0.80909	0.22;0.2;0.22;-1.43;0.16;1.03	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.982;0.978;0.936	D	0.91507	0.5224	10	0.72032	D	0.01	-15.0384	20.206	0.98277	0.0:0.0:1.0:0.0	.	183;183;197	F5H0V3;Q53X93;P16220	.;.;CREB1_HUMAN	C	183;197;183;183;143;10	ENSP00000405539:G183C;ENSP00000387699:G197C;ENSP00000236995:G183C;ENSP00000445892:G183C;ENSP00000405711:G143C;ENSP00000401803:G10C	ENSP00000236995:G183C	G	+	1	0	CREB1	208148282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GGT		PASS	0.438	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		6	88	6	88	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208725977	208725977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:208725977C>A	ENST00000427836.2	-	7	2449	c.1960G>T	c.(1960-1962)Gga>Tga	p.G654*	PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.G654*	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	654					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.G654*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCAGCTTTCCCTCTATTACC	0.443																																						uc002vcl.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1960-1962)GGA>TGA		pleckstrin homology domain containing, family M,							92.0	88.0	89.0					2																	208725977		1929	4139	6068	SO:0001587	stop_gained	389072				intracellular signal transduction		metal ion binding	g.chr2:208725977C>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1960G>T	2.37:g.208725977C>A	ENSP00000417003:p.Gly654*						p.G654*	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			7	2450	-			654					B9EKV2|Q8WW68	Nonsense_Mutation	SNP	ENST00000427836.2	37	c.1960G>T	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.835013|10.835013	0.99475|0.99475	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.81437|.	0.4822|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83003|.	-0.0176|.	4|.	.|0.72032	.|D	.|0.01	.|.	19.3014|19.3014	0.94145|0.94145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	405|654	.|.	.|ENSP00000373899:G654X	G|G	-|-	2|1	0|0	PLEKHM3|PLEKHM3	208434222|208434222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.609000|7.609000	0.82925|0.82925	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GGG|GGA		PASS	0.443	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		6	69	6	69	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219394731	219394731	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:219394731C>A	ENST00000258399.3	-	10	1223	c.811G>T	c.(811-813)Ggt>Tgt	p.G271C	USP37_ENST00000454775.1_Missense_Mutation_p.G271C|USP37_ENST00000418019.1_Missense_Mutation_p.G271C|USP37_ENST00000415516.1_Missense_Mutation_p.G199C|USP37_ENST00000338465.5_Missense_Mutation_p.G271C	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	271					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.G271C(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTCTGCTACCATAAAAGGAT	0.328																																						uc002vie.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|prostate(1)	5						c.(811-813)GGT>TGT		ubiquitin specific peptidase 37							101.0	101.0	101.0					2																	219394731		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219394731C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.811G>T	2.37:g.219394731C>A	ENSP00000258399:p.Gly271Cys					USP37_uc010fvs.1_Missense_Mutation_p.G271C|USP37_uc010zkf.1_Missense_Mutation_p.G271C|USP37_uc002vif.2_Missense_Mutation_p.G271C|USP37_uc002vig.2_Missense_Mutation_p.G199C|USP37_uc010zkg.1_Missense_Mutation_p.G271C	p.G271C	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	10	1264	-		Renal(207;0.0915)	271					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.811G>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574849	0.65878	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.60548	0.87;0.87;0.85;0.87;0.18	5.84	5.84	0.93424	.	0.217982	0.46758	D	0.000274	T	0.51770	0.1694	N	0.08118	0	0.54753	D	0.999987	D;B;B	0.55385	0.971;0.102;0.221	P;B;B	0.52424	0.698;0.063;0.086	T	0.61138	-0.7123	10	0.72032	D	0.01	-16.3512	17.9121	0.88937	0.0:1.0:0.0:0.0	.	271;199;271	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	C	271;271;199;271;271	ENSP00000258399:G271C;ENSP00000393662:G271C;ENSP00000400902:G199C;ENSP00000396585:G271C;ENSP00000345043:G271C	ENSP00000258399:G271C	G	-	1	0	USP37	219102975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.388000	0.34442	2.764000	0.94973	0.655000	0.94253	GGT		PASS	0.328	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		6	79	6	79	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219870856	219870856	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:219870856G>C	ENST00000341552.5	-	31	4892	c.4809C>G	c.(4807-4809)tgC>tgG	p.C1603W	CCDC108_ENST00000453220.1_Missense_Mutation_p.C1603W|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.C1603W	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1603						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.C1603W(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCTGGGGGCAGGGCCAGG	0.617																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(4807-4809)TGC>TGG		coiled-coil domain containing 108 isoform 1							52.0	60.0	57.0					2																	219870856		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219870856G>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4809C>G	2.37:g.219870856G>C	ENSP00000340776:p.Cys1603Trp						p.C1603W	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4893	-		Renal(207;0.0915)	1603					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4809C>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098360	0.20552	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05258	3.47;3.47;3.47	5.56	1.62	0.23740	.	0.285090	0.25607	N	0.029513	T	0.14227	0.0344	M	0.64997	1.995	0.58432	D	0.999998	D	0.76494	0.999	P	0.61328	0.887	T	0.01492	-1.1341	10	0.62326	D	0.03	-15.0383	5.0287	0.14398	0.3413:0.1422:0.5165:0.0	.	1603	Q6ZU64	CC108_HUMAN	W	1603	ENSP00000340776:C1603W;ENSP00000413377:C1603W;ENSP00000409117:C1603W	ENSP00000340776:C1603W	C	-	3	2	CCDC108	219579100	0.063000	0.20901	0.432000	0.26747	0.019000	0.09904	0.081000	0.14823	0.011000	0.14865	-0.140000	0.14226	TGC		PASS	0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		5	32	5	32	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220478475	220478475	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:220478475G>T	ENST00000456909.1	+	21	2629	c.2539G>T	c.(2539-2541)Gag>Tag	p.E847*	STK11IP_ENST00000295641.10_Splice_Site_p.E858*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	858					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.E858*(1)|p.E847*(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCACAGTGAGCCTCCAGC	0.622																																						uc002vml.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2572-2574)GAG>TAG		LKB1 interacting protein							50.0	56.0	54.0					2																	220478475		2161	4266	6427	SO:0001630	splice_region_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220478475G>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2538-1G>T	2.37:g.220478475G>T							p.E858*	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	2615	+		Renal(207;0.0183)	858					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37	c.2572G>T		.	.	.	.	.	.	.	.	.	.	g	40	8.300882	0.98750	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	.	.	.	4.62	4.62	0.57501	.	0.196102	0.43260	D	0.000590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.6644	14.5207	0.67849	0.0:0.0:1.0:0.0	.	.	.	.	X	847;858	.	ENSP00000295641:E858X	E	+	1	0	STK11IP	220186719	0.995000	0.38212	1.000000	0.80357	0.811000	0.45836	3.201000	0.51059	2.406000	0.81754	0.558000	0.71614	GAG		PASS	0.622	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	Nonsense_Mutation	6	49	6	49	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225422495	225422495	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:225422495T>C	ENST00000264414.4	-	2	483	c.145A>G	c.(145-147)Aac>Gac	p.N49D	CUL3_ENST00000409096.1_Missense_Mutation_p.N25D|CUL3_ENST00000344951.4_Intron|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.N25D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	49					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.N49D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGACCACTGTTATTCTTACGC	0.358																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(145-147)AAC>GAC		cullin 3							99.0	96.0	97.0					2																	225422495		2202	4297	6499	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225422495T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.145A>G	2.37:g.225422495T>C	ENSP00000264414:p.Asn49Asp					CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.N55D	p.N49D	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	529	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	49					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.145A>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111830	0.77210	.	.	ENSG00000036257	ENST00000264414;ENST00000409096;ENST00000409777	T;T;T	0.73897	-0.79;-0.79;-0.79	5.85	5.85	0.93711	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.76767	-0.2838	10	0.12766	T	0.61	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	27;49	Q53S54;Q13618	.;CUL3_HUMAN	D	49;25;25	ENSP00000264414:N49D;ENSP00000387200:N25D;ENSP00000386525:N25D	ENSP00000264414:N49D	N	-	1	0	CUL3	225130739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.918000	0.87506	2.234000	0.73211	0.533000	0.62120	AAC		PASS	0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			6	52	6	52	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226273726	226273726	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:226273726C>A	ENST00000272907.6	+	2	543	c.130C>A	c.(130-132)Cga>Aga	p.R44R	NYAP2_ENST00000409269.2_Silent_p.R44R	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	44					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R44*(1)|p.R44R(1)									AGATATTGCTCGAGAGAATGA	0.408																																						uc002voe.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(130-132)CGA>AGA		hypothetical protein LOC57624							104.0	94.0	97.0					2																	226273726		1881	4110	5991	SO:0001819	synonymous_variant	57624							g.chr2:226273726C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.130C>A	2.37:g.226273726C>A						KIAA1486_uc010fxa.1_Silent_p.R39R	p.R44R	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	2	305	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	44					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.130C>A	CCDS46529.1																																																																																				PASS	0.408	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		5	50	5	50	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228118298	228118298	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:228118298C>A	ENST00000396578.3	+	13	871	c.709C>A	c.(709-711)Ccc>Acc	p.P237T	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	237	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.P237T(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTTAACAGGACCCCCGGGACC	0.438																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(709-711)CCC>ACC		alpha 3 type IV collagen isoform 1 precursor							291.0	266.0	274.0					2																	228118298		1881	4104	5985	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118298C>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.709C>A	2.37:g.228118298C>A	ENSP00000379823:p.Pro237Thr					COL4A3_uc002von.1_Missense_Mutation_p.P237T|COL4A3_uc002voo.1_Missense_Mutation_p.P237T|COL4A3_uc002vop.1_Missense_Mutation_p.P237T|uc002voq.1_Intron|uc002vor.1_Intron	p.P237T	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	871	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	237			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.709C>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165862	0.78339	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96651	-4.08	5.59	5.59	0.84812	.	0.000000	0.52532	D	0.000062	D	0.97794	0.9276	M	0.74546	2.27	0.58432	D	0.999995	D;D;D;D	0.89917	0.999;0.996;1.0;1.0	D;D;D;D	0.83275	0.994;0.981;0.996;0.991	D	0.98160	1.0446	10	0.66056	D	0.02	.	15.0921	0.72204	0.0:1.0:0.0:0.0	.	237;237;237;237	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	237	ENSP00000379823:P237T	ENSP00000323334:P237T	P	+	1	0	COL4A3	227826542	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.046000	0.57376	2.628000	0.89032	0.655000	0.94253	CCC		PASS	0.438	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		33	111	33	111	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231943383	231943383	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:231943383G>C	ENST00000308696.6	+	10	1244	c.1082G>C	c.(1081-1083)cGg>cCg	p.R361P	PSMD1_ENST00000373635.4_Missense_Mutation_p.R361P|PSMD1_ENST00000409643.1_Missense_Mutation_p.R361P	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	361					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R361P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGCAGTACGGAATTCTGTA	0.398																																						uc002vrn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1081-1083)CGG>CCG		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						123.0	115.0	118.0					2																	231943383		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231943383G>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1082G>C	2.37:g.231943383G>C	ENSP00000309474:p.Arg361Pro					PSMD1_uc002vrm.1_Missense_Mutation_p.R361P|PSMD1_uc010fxu.1_Missense_Mutation_p.R225P	p.R361P	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	10	1213	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	361					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1082G>C	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903514	0.92035	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.983;0.988	D	0.89190	0.3550	9	0.72032	D	0.01	-11.8035	19.7837	0.96428	0.0:0.0:1.0:0.0	.	361;361	Q99460;Q99460-2	PSMD1_HUMAN;.	P	361	.	ENSP00000309474:R361P	R	+	2	0	PSMD1	231651627	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.785000	0.99042	2.670000	0.90874	0.585000	0.79938	CGG		PASS	0.398	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			3	53	3	53	---	---	---	---
SH3BP4	23677	broad.mit.edu	37	2	235950626	235950626	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:235950626C>A	ENST00000409212.1	+	4	1720	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	SH3BP4_ENST00000344528.4_Missense_Mutation_p.L405I|SH3BP4_ENST00000392011.2_Missense_Mutation_p.L405I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	405					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L405I(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAAAAATGACCTTTTTAGCAA	0.537																																						uc002vvp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1213-1215)CTT>ATT		SH3-domain binding protein 4							45.0	47.0	47.0					2																	235950626		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950626C>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1213C>A	2.37:g.235950626C>A	ENSP00000386862:p.Leu405Ile					SH3BP4_uc010fym.2_Missense_Mutation_p.L405I|SH3BP4_uc002vvq.2_Missense_Mutation_p.L405I	p.L405I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1606	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	405					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1213C>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.053895	0.07362	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.09350	2.99;2.99;2.99	5.62	-5.72	0.02406	.	1.216570	0.05577	N	0.572060	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.46133	-0.9213	10	0.11485	T	0.65	-6.4179	9.3718	0.38258	0.2463:0.3285:0.4252:0.0	.	405;405	A8K594;Q9P0V3	.;SH3B4_HUMAN	I	405	ENSP00000375867:L405I;ENSP00000386862:L405I;ENSP00000340237:L405I	ENSP00000340237:L405I	L	+	1	0	SH3BP4	235615365	0.000000	0.05858	0.006000	0.13384	0.971000	0.66376	-0.990000	0.03732	-0.678000	0.05224	-0.127000	0.14921	CTT		PASS	0.537	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			5	29	5	29	---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238402140	238402140	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr2:238402140G>T	ENST00000264605.3	+	2	365	c.71G>T	c.(70-72)cGa>cTa	p.R24L	MLPH_ENST00000409373.1_Missense_Mutation_p.R24L|MLPH_ENST00000410032.1_Missense_Mutation_p.R24L|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.R24L|MLPH_ENST00000445024.2_Missense_Mutation_p.R24L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	24	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.R24L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTTGTTCAACGAGATTTTGAC	0.547																																						uc002vwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)CGA>CTA		melanophilin isoform 1							164.0	159.0	161.0					2																	238402140		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238402140G>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.71G>T	2.37:g.238402140G>T	ENSP00000264605:p.Arg24Leu					MLPH_uc002vws.2_Missense_Mutation_p.R24L|MLPH_uc010fyt.1_Missense_Mutation_p.R24L|MLPH_uc002vwu.2_Missense_Mutation_p.R24L|MLPH_uc002vwv.2_Missense_Mutation_p.R24L	p.R24L	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	2	298	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	24	R->A: Decreases RAB27A binding.		RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.71G>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371268	0.82573	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92708	0.7682	M	0.93016	3.37	0.54753	D	0.999988	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;1.0;0.999;0.998	D	0.94173	0.7425	10	0.87932	D	0	-29.0839	13.9159	0.63897	0.0:0.0:1.0:0.0	.	24;24;24;24;24	B4DKW7;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;MELPH_HUMAN;.	L	24	ENSP00000409170:R24L;ENSP00000403909:R24L;ENSP00000386338:R24L;ENSP00000264605:R24L;ENSP00000414849:R24L;ENSP00000341845:R24L;ENSP00000386780:R24L	ENSP00000264605:R24L	R	+	2	0	MLPH	238066879	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	8.119000	0.89579	2.344000	0.79699	0.579000	0.79373	CGA		PASS	0.547	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		6	95	6	95	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	447294	447294	+	Missense_Mutation	SNP	G	G	A	rs141163165		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:447294G>A	ENST00000256509.2	+	28	4217	c.3575G>A	c.(3574-3576)aGt>aAt	p.S1192N	CHL1_ENST00000397491.2_Missense_Mutation_p.S1176N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.S1192N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGTCTCTTCAGTGAAGATGGA	0.473																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3526-3528)AGT>AAT		cell adhesion molecule with homology to L1CAM							142.0	134.0	137.0					3																	447294		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:447294G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3575G>A	3.37:g.447294G>A	ENSP00000256509:p.Ser1192Asn					CHL1_uc003bot.2_Missense_Mutation_p.S1192N|CHL1_uc011asi.1_Missense_Mutation_p.S1139N	p.S1176N	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	27	3798	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1176			Cytoplasmic (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3527G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	1.786	-0.480715	0.04383	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.82711	-1.64;-1.64	5.72	-2.91	0.05631	.	0.415494	0.27509	N	0.019046	T	0.39708	0.1088	N	0.00116	-2.08	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.55860	-0.8074	10	0.02654	T	1	.	11.4804	0.50322	0.5531:0.0:0.4469:0.0	.	1176;1192	O00533;O00533-2	CHL1_HUMAN;.	N	1192;1176	ENSP00000256509:S1192N;ENSP00000380628:S1176N	ENSP00000256509:S1192N	S	+	2	0	CHL1	422294	1.000000	0.71417	0.023000	0.16930	0.563000	0.35712	1.666000	0.37460	-0.770000	0.04614	-0.238000	0.12139	AGT		PASS	0.473	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		16	34	16	34	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7188172	7188172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:7188172G>T	ENST00000357716.4	+	2	827	c.553G>T	c.(553-555)Gag>Tag	p.E185*	GRM7_ENST00000389336.4_Nonsense_Mutation_p.E185*|GRM7_ENST00000486284.1_Nonsense_Mutation_p.E185*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E185*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E185*	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	185					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.E185*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AACGGCACCCGAGCTAAGTGA	0.512																																						uc003bqm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(3)	7						c.(553-555)GAG>TAG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						128.0	113.0	118.0					3																	7188172		2203	4300	6503	SO:0001587	stop_gained	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188172G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.553G>T	3.37:g.7188172G>T	ENSP00000350348:p.Glu185*					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Nonsense_Mutation_p.E185*|GRM7_uc003bql.2_Nonsense_Mutation_p.E185*	p.E185*	NM_000844	NP_000835	Q14831	GRM7_HUMAN			2	827	+			185			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Nonsense_Mutation	SNP	ENST00000357716.4	37	c.553G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731012	0.48939	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	.	.	.	5.74	5.74	0.90152	.	0.117044	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	18.8612	0.92273	0.0:0.0:1.0:0.0	.	.	.	.	X	185	.	ENSP00000350348:E185X	E	+	1	0	GRM7	7163172	1.000000	0.71417	0.962000	0.40283	0.029000	0.11900	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.512	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		6	70	6	70	---	---	---	---
RPUSD3	285367	broad.mit.edu	37	3	9882216	9882216	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:9882216G>T	ENST00000383820.5	-	6	601	c.600C>A	c.(598-600)ctC>ctA	p.L200L	RPUSD3_ENST00000433535.2_Splice_Site_p.L185L|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000485705.1_5'Flank|RPUSD3_ENST00000424438.1_Splice_Site_p.L168L	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	200					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.L192L(1)		central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CCGGACTCACGAGATTGACCC	0.562																																						uc011atk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(598-600)CTC>CTA		RNA pseudouridylate synthase domain containing 3							205.0	206.0	205.0					3																	9882216		2203	4300	6503	SO:0001630	splice_region_variant	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9882216G>T	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.600+1C>A	3.37:g.9882216G>T						ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Silent_p.L185L|RPUSD3_uc011atm.1_Silent_p.L192L|RPUSD3_uc003btn.2_3'UTR	p.L200L	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN			6	604	-	Medulloblastoma(99;0.227)		200					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Silent	SNP	ENST00000383820.5	37	c.600C>A	CCDS2586.2	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863668	0.00552	.	.	ENSG00000156990	ENST00000423108;ENST00000427174	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2164	0.10537	0.1452:0.25:0.4358:0.169	.	.	.	.	X	29;191	.	.	S	-	2	0	RPUSD3	9857216	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	-3.019000	0.00643	-2.593000	0.00455	-0.294000	0.09567	TCA;TCG		PASS	0.562	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659	Silent	5	107	5	107	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11389435	11389435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:11389435G>T	ENST00000354449.3	+	12	1235	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	ATG7_ENST00000446450.2_Nonsense_Mutation_p.E365*|ATG7_ENST00000354956.5_Nonsense_Mutation_p.E404*	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	404					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.E404*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTATGAGTTTGAAGATTGCCT	0.522																																						uc003bwc.2																			2	Substitution - Nonsense(2)		lung(1)|kidney(1)	central_nervous_system(1)	1						c.(1210-1212)GAA>TAA		APG7 autophagy 7-like isoform a							119.0	117.0	118.0					3																	11389435		2203	4300	6503	SO:0001587	stop_gained	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11389435G>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1210G>T	3.37:g.11389435G>T	ENSP00000346437:p.Glu404*					ATG7_uc003bwd.2_Nonsense_Mutation_p.E404*|ATG7_uc011aum.1_Nonsense_Mutation_p.E365*	p.E404*	NM_006395	NP_006386	O95352	ATG7_HUMAN			12	1327	+			404					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Nonsense_Mutation	SNP	ENST00000354449.3	37	c.1210G>T	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278909	0.95489	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-27.1626	15.2218	0.73316	0.0:0.0:0.8595:0.1405	.	.	.	.	X	365;404;404	.	ENSP00000346437:E404X	E	+	1	0	ATG7	11364435	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.316000	0.96319	2.840000	0.97914	0.655000	0.94253	GAA		PASS	0.522	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		17	56	17	56	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14211999	14211999	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:14211999G>T	ENST00000285021.7	-	3	565	c.351C>A	c.(349-351)acC>acA	p.T117T	XPC_ENST00000449060.2_Silent_p.T117T	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	117	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.T117T(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCATTCATGGTAGCCCCTC	0.428			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc011ave.1			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(349-351)ACC>ACA	NER	xeroderma pigmentosum, complementation group C							333.0	311.0	318.0					3																	14211999		1899	4131	6030	SO:0001819	synonymous_variant	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14211999G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.351C>A	3.37:g.14211999G>T						XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Silent_p.T117T	p.T117T	NM_004628	NP_004619	Q01831	XPC_HUMAN			3	455	-			117			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.351C>A	CCDS46763.1																																																																																				PASS	0.428	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		9	183	9	183	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14974123	14974123	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:14974123A>T	ENST00000285046.5	+	19	4347	c.4237A>T	c.(4237-4239)Acc>Tcc	p.T1413S	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.T1129S|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1413	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.T1413S(1)|p.T1172S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCTAGGCTTCACCATTGCTCC	0.428																																						uc003bzc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(4237-4239)ACC>TCC		FYVE, RhoGEF and PH domain containing 5							99.0	103.0	102.0					3																	14974123		1896	4116	6012	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14974123A>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.4237A>T	3.37:g.14974123A>T	ENSP00000285046:p.Thr1413Ser					FGD5_uc011avk.1_Missense_Mutation_p.T1370S|FGD5_uc003bzd.2_Missense_Mutation_p.T491S	p.T1413S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			19	4347	+			1413			PH 2.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.4237A>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845535	0.71603	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76448	-1.02;2.82	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.56097	D	0.000024	T	0.80215	0.4582	L	0.37800	1.135	0.44807	D	0.997815	P;D	0.53619	0.954;0.961	P;P	0.61328	0.591;0.887	T	0.79546	-0.1759	10	0.40728	T	0.16	-41.552	11.9445	0.52920	0.8551:0.1449:0.0:0.0	.	1129;1413	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	S	1413;1129	ENSP00000285046:T1413S;ENSP00000445949:T1129S	ENSP00000285046:T1413S	T	+	1	0	FGD5	14949127	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.482000	0.53186	2.175000	0.68902	0.482000	0.46254	ACC		PASS	0.428	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		14	53	14	53	---	---	---	---
OXNAD1	92106	broad.mit.edu	37	3	16327883	16327883	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:16327883G>T	ENST00000285083.5	+	5	683	c.218G>T	c.(217-219)aGt>aTt	p.S73I	OXNAD1_ENST00000605932.1_Missense_Mutation_p.S73I|OXNAD1_ENST00000606098.1_Missense_Mutation_p.S73I|OXNAD1_ENST00000435829.2_Missense_Mutation_p.S91I|OXNAD1_ENST00000544043.1_Missense_Mutation_p.S91I	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	73	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.S73I(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GGAGCTGCCAGTGAGTCACCG	0.478																																						uc003caw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(217-219)AGT>ATT		oxidoreductase NAD-binding domain containing 1							222.0	187.0	199.0					3																	16327883		2203	4300	6503	SO:0001583	missense	92106						oxidoreductase activity	g.chr3:16327883G>T	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.218G>T	3.37:g.16327883G>T	ENSP00000285083:p.Ser73Ile					OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Missense_Mutation_p.S73I|OXNAD1_uc011awb.1_Missense_Mutation_p.S91I	p.S73I	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN			5	675	+			73			FAD-binding FR-type.		Q2HYC7|Q59FA4	Missense_Mutation	SNP	ENST00000285083.5	37	c.218G>T	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356565	0.41700	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.13307	2.6;2.6;2.6	5.26	-4.03	0.04021	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.965693	0.08616	N	0.919132	T	0.09024	0.0223	L	0.31926	0.97	0.09310	N	1	B;B	0.26002	0.139;0.09	B;B	0.23574	0.047;0.021	T	0.33420	-0.9869	10	0.39692	T	0.17	-13.0802	6.7195	0.23323	0.4427:0.2328:0.3245:0.0	.	91;73	F5H620;Q96HP4	.;OXND1_HUMAN	I	73;73;91	ENSP00000285083:S73I;ENSP00000389872:S73I;ENSP00000437967:S91I	ENSP00000285083:S73I	S	+	2	0	OXNAD1	16302887	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	-0.372000	0.07504	-1.099000	0.03034	-0.150000	0.13652	AGT		PASS	0.478	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		6	74	6	74	---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17418096	17418096	+	Nonsense_Mutation	SNP	C	C	A	rs376019761		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:17418096C>A	ENST00000253692.7	-	10	2286	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	TBC1D5_ENST00000429924.2_Nonsense_Mutation_p.E160*|TBC1D5_ENST00000429383.4_Nonsense_Mutation_p.E208*|TBC1D5_ENST00000446818.2_Nonsense_Mutation_p.E208*|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	208	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.E208*(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GCTAACAGTTCGTGCATGCCC	0.398																																						uc003cbf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(622-624)GAA>TAA		TBC1 domain family, member 5 isoform b							87.0	91.0	89.0					3																	17418096		2203	4300	6503	SO:0001587	stop_gained	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17418096C>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.622G>T	3.37:g.17418096C>A	ENSP00000253692:p.Glu208*					TBC1D5_uc010hev.2_Nonsense_Mutation_p.E208*|TBC1D5_uc003cbe.2_Nonsense_Mutation_p.E208*|TBC1D5_uc010hew.1_Nonsense_Mutation_p.E160*	p.E208*	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			10	2287	-			208			Rab-GAP TBC.		A6NP25|C9JP52	Nonsense_Mutation	SNP	ENST00000253692.7	37	c.622G>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	38	6.941445	0.97952	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	.	.	.	5.19	5.19	0.71726	.	0.048680	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.25	18.7096	0.91651	0.0:1.0:0.0:0.0	.	.	.	.	X	208;208;208;160	.	ENSP00000253692:E208X	E	-	1	0	TBC1D5	17393100	1.000000	0.71417	0.997000	0.53966	0.752000	0.42762	7.741000	0.84997	2.438000	0.82558	0.585000	0.79938	GAA		PASS	0.398	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		4	44	4	44	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18393544	18393544	+	Silent	SNP	C	C	G	rs377110906		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:18393544C>G	ENST00000338745.6	-	10	3453	c.1719G>C	c.(1717-1719)gcG>gcC	p.A573A	SATB1_ENST00000454909.2_Silent_p.A573A|SATB1_ENST00000417717.2_Silent_p.A573A|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	573					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A573A(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGATGCACCGCGTTGCTCT	0.493																																						uc003cbh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1717-1719)GCG>GCC		special AT-rich sequence binding protein 1							157.0	137.0	144.0					3																	18393544		2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18393544C>G		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1719G>C	3.37:g.18393544C>G						SATB1_uc003cbi.2_Silent_p.A573A|SATB1_uc003cbj.2_Silent_p.A573A	p.A573A	NM_002971	NP_002962	Q01826	SATB1_HUMAN			10	3454	-			573					B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.1719G>C	CCDS2631.1																																																																																				PASS	0.493	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		4	90	4	90	---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25805745	25805745	+	Missense_Mutation	SNP	G	G	T	rs375732599		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:25805745G>T	ENST00000280700.5	-	3	464	c.304C>A	c.(304-306)Cgt>Agt	p.R102S	NGLY1_ENST00000396649.3_Missense_Mutation_p.R102S|NGLY1_ENST00000422724.2_Missense_Mutation_p.R25S|NGLY1_ENST00000417874.2_Missense_Mutation_p.R60S|NGLY1_ENST00000428257.1_Missense_Mutation_p.R102S	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	102					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.R102S(1)|p.R102C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCAGGTCACGAATTTTTTGC	0.403																																						uc003cdl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	breast(1)	1						c.(304-306)CGT>AGT		N-glycanase 1 isoform 1							183.0	184.0	184.0					3																	25805745		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25805745G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.304C>A	3.37:g.25805745G>T	ENSP00000280700:p.Arg102Ser					NGLY1_uc010hfg.2_Missense_Mutation_p.R102S|NGLY1_uc003cdm.2_Missense_Mutation_p.R102S|NGLY1_uc011awo.1_Missense_Mutation_p.R60S|NGLY1_uc003cdk.2_RNA	p.R102S	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			3	412	-			102					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.304C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396156	0.83011	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874;ENST00000427041	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;1.51	5.97	5.97	0.96955	PUB domain (1);	0.043323	0.85682	D	0.000000	T	0.58708	0.2141	L	0.50333	1.59	0.54753	D	0.999986	P;D;D;D	0.89917	0.82;1.0;0.961;1.0	P;D;P;D	0.85130	0.841;0.976;0.743;0.997	T	0.57248	-0.7844	10	0.59425	D	0.04	-13.707	14.094	0.65008	0.0:0.0:0.8494:0.1506	.	60;102;102;102	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	S	102;102;102;99;25;60;25	ENSP00000387430:R102S;ENSP00000280700:R102S;ENSP00000379886:R102S;ENSP00000307980:R99S;ENSP00000389888:R60S	ENSP00000280700:R102S	R	-	1	0	NGLY1	25780749	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.964000	0.49192	2.836000	0.97738	0.655000	0.94253	CGT		PASS	0.403	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			6	183	6	183	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872688	36872688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:36872688C>A	ENST00000429976.2	-	21	8501	c.8254G>T	c.(8254-8256)Gag>Tag	p.E2752*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E2202*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E2202*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2752							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E2752*(1)|p.E2195*(1)|p.E2202*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGCCACCTCGGAAGCTGCC	0.557																																						uc003cgj.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(6604-6606)GAG>TAG		lupus brain antigen 1							78.0	78.0	78.0					3																	36872688		1993	4174	6167	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872688C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8254G>T	3.37:g.36872688C>A	ENSP00000416168:p.Glu2752*						p.E2202*	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	6906	-			2752					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.6604G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	46	12.262449	0.99651	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.49	5.49	0.81192	.	0.106553	0.40469	N	0.001089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.9331	0.89004	0.0:1.0:0.0:0.0	.	.	.	.	X	2202;2752;2202	.	ENSP00000301807:E2202X	E	-	1	0	TRANK1	36847692	0.142000	0.22610	0.197000	0.23402	0.026000	0.11368	5.038000	0.64177	2.756000	0.94617	0.561000	0.74099	GAG		PASS	0.557	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	36	4	36	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38798188	38798188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:38798188C>A	ENST00000449082.2	-	9	1266	c.1267G>T	c.(1267-1269)Gag>Tag	p.E423*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	423					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.E423*(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)	CGGAGCATCTCGAGGGCCTCC	0.502																																						uc003ciq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1267-1269)GAG>TAG		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)						138.0	134.0	135.0					3																	38798188		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798188C>A	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.1267G>T	3.37:g.38798188C>A	ENSP00000390600:p.Glu423*						p.E423*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1267	-			423					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.1267G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506373	0.64410	.	.	ENSG00000185313	ENST00000449082	.	.	.	5.21	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.2383	0.15458	0.1446:0.634:0.1393:0.0821	.	.	.	.	X	423	.	ENSP00000390600:E423X	E	-	1	0	SCN10A	38773192	0.994000	0.37717	0.030000	0.17652	0.041000	0.13682	3.211000	0.51137	0.787000	0.33731	0.561000	0.74099	GAG		PASS	0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	86	5	86	---	---	---	---
GORASP1	64689	broad.mit.edu	37	3	39141908	39141908	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:39141908G>A	ENST00000319283.3	-	6	1474	c.653C>T	c.(652-654)cCa>cTa	p.P218L	GORASP1_ENST00000479927.1_Missense_Mutation_p.P123L|GORASP1_ENST00000476334.1_5'Flank|GORASP1_ENST00000422110.2_Missense_Mutation_p.P63L	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	218	Pro-rich.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.P218L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGCAGAAGGTGGTGGGGTGCC	0.612																																						uc003ciw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(652-654)CCA>CTA		Golgi reassembly stacking protein 1							83.0	90.0	88.0					3																	39141908		2203	4300	6503	SO:0001583	missense	64689				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		g.chr3:39141908G>A	AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.653C>T	3.37:g.39141908G>A	ENSP00000313869:p.Pro218Leu					GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Missense_Mutation_p.P123L|GORASP1_uc003ciz.1_Missense_Mutation_p.P63L	p.P218L	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	6	751	-			218			Pro-rich.		B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	ENST00000319283.3	37	c.653C>T	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353500	0.41700	.	.	ENSG00000114745	ENST00000319283;ENST00000422110;ENST00000479927	T;T;T	0.52057	0.87;0.68;0.81	4.51	2.66	0.31614	.	0.329605	0.27759	N	0.017961	T	0.39036	0.1063	L	0.54323	1.7	0.58432	D	0.999999	B;B;B	0.15473	0.013;0.008;0.001	B;B;B	0.16289	0.007;0.015;0.002	T	0.25606	-1.0127	10	0.59425	D	0.04	0.6902	6.1541	0.20328	0.0975:0.0:0.7173:0.1852	.	123;63;218	B4E1H8;B3KPY8;Q9BQQ3	.;.;GORS1_HUMAN	L	218;63;123	ENSP00000313869:P218L;ENSP00000395709:P63L;ENSP00000419123:P123L	ENSP00000313869:P218L	P	-	2	0	GORASP1	39116912	0.510000	0.26171	0.001000	0.08648	0.041000	0.13682	1.246000	0.32803	0.499000	0.27970	0.491000	0.48974	CCA		PASS	0.612	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1			3	5	3	5	---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45779277	45779277	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:45779277C>A	ENST00000389061.5	+	16	1527	c.1323C>A	c.(1321-1323)aaC>aaA	p.N441K	SACM1L_ENST00000418611.1_Missense_Mutation_p.N338K|SACM1L_ENST00000541314.1_Missense_Mutation_p.N380K	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	441	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.N441K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GGGCTGACAACGCAAATGCTT	0.368																																						uc003cos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1321-1323)AAC>AAA		suppressor of actin 1							83.0	87.0	86.0					3																	45779277		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45779277C>A	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1323C>A	3.37:g.45779277C>A	ENSP00000373713:p.Asn441Lys					SACM1L_uc011bag.1_Missense_Mutation_p.N338K|SACM1L_uc011bah.1_Missense_Mutation_p.N375K|SACM1L_uc003cot.2_Missense_Mutation_p.N84K	p.N441K	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	16	1527	+			441			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1323C>A	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646209	0.67358	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.97	-5.77	0.02369	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	H	0.97440	4.005	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.994	T	0.73219	-0.4052	10	0.72032	D	0.01	-5.2351	17.4153	0.87498	0.0:0.095:0.0:0.905	.	380;84;441	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	K	338;441;380;118	ENSP00000396387:N338K;ENSP00000373713:N441K;ENSP00000443373:N380K;ENSP00000412883:N118K	ENSP00000373713:N441K	N	+	3	2	SACM1L	45754281	0.828000	0.29307	0.855000	0.33649	0.856000	0.48823	-0.114000	0.10757	-1.295000	0.02357	-1.453000	0.01033	AAC		PASS	0.368	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		5	70	5	70	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48614120	48614120	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:48614120G>T	ENST00000328333.8	-	67	5796	c.5689C>A	c.(5689-5691)Cct>Act	p.P1897T	COL7A1_ENST00000454817.1_Intron|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1897	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1897T(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCCAGGAGGGCCCACTGGC	0.617																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(5689-5691)CCT>ACT		alpha 1 type VII collagen precursor							12.0	15.0	14.0					3																	48614120		2200	4299	6499	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48614120G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5689C>A	3.37:g.48614120G>T	ENSP00000332371:p.Pro1897Thr						p.P1897T	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	67	5690	-			1897			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5689C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380466	0.42207	.	.	ENSG00000114270	ENST00000328333	D	0.96856	-4.15	5.93	5.93	0.95920	.	0.000000	0.45126	D	0.000385	D	0.97623	0.9221	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95944	0.8949	10	0.13108	T	0.6	.	18.919	0.92518	0.0:0.0:1.0:0.0	.	1897	Q02388	CO7A1_HUMAN	T	1897	ENSP00000332371:P1897T	ENSP00000332371:P1897T	P	-	1	0	COL7A1	48589124	1.000000	0.71417	0.996000	0.52242	0.295000	0.27426	4.240000	0.58701	2.814000	0.96858	0.655000	0.94253	CCT		PASS	0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	10	4	10	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49758714	49758714	+	Silent	SNP	G	G	T	rs531884204		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:49758714G>T	ENST00000327697.6	+	39	4065	c.3921G>T	c.(3919-3921)acG>acT	p.T1307T	AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Silent_p.T419T|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000320431.7_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1307					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T1307T(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GAGCCAATACGAGTACTACCT	0.542																																						uc003cxh.2																			1	Substitution - coding silent(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(3919-3921)ACG>ACT		ring finger protein 123							252.0	253.0	253.0					3																	49758714		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49758714G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3921G>T	3.37:g.49758714G>T						RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	p.T1307T	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	39	4007	+			1307					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3921G>T	CCDS33758.1																																																																																				PASS	0.542	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	131	6	131	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52621494	52621494	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:52621494G>C	ENST00000296302.7	-	19	2999	c.2998C>G	c.(2998-3000)Cga>Gga	p.R1000G	PBRM1_ENST00000356770.4_Missense_Mutation_p.R968G|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1000G|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1015G|PBRM1_ENST00000410007.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1015G|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1000G|PBRM1_ENST00000394830.3_Intron			Q86U86	PB1_HUMAN	polybromo 1	1000	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1000G(2)|p.R968G(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTTGGTCGGTAAAACCAA	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - Missense(3)		lung(3)	kidney(136)|breast(4)	140						c.(2998-3000)CGA>GGA		polybromo 1 isoform 4							55.0	56.0	56.0					3																	52621494		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52621494G>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2998C>G	3.37:g.52621494G>C	ENSP00000296302:p.Arg1000Gly					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1000G|PBRM1_uc003der.2_Missense_Mutation_p.R968G|PBRM1_uc003det.2_Missense_Mutation_p.R1015G|PBRM1_uc003deu.2_Missense_Mutation_p.R1015G|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1000G|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Missense_Mutation_p.R999G|PBRM1_uc003dfb.1_Missense_Mutation_p.R912G|PBRM1_uc003dfa.1_Missense_Mutation_p.R346G	p.R1000G	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	3010	-			1000			BAH 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2998C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980509	0.74474	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	D;D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.92	5.92	0.95590	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	M	0.91920	3.255	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;0.998;0.999;0.998;0.996	D	0.96041	0.9024	10	0.87932	D	0	-26.5664	15.8642	0.79052	0.0:0.0:0.8639:0.1361	.	999;1000;1015;1015;1000;968;1000	E7EVG2;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;PB1_HUMAN;.;.	G	968;1000;1000;1000;1015;1015;999;958	ENSP00000349213:R968G;ENSP00000296302:R1000G;ENSP00000338302:R1000G;ENSP00000386593:R1000G;ENSP00000386643:R1015G;ENSP00000386601:R1015G;ENSP00000387775:R999G;ENSP00000397662:R958G	ENSP00000296302:R1000G	R	-	1	2	PBRM1	52596534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.255000	0.51484	2.795000	0.96236	0.655000	0.94253	CGA		PASS	0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		3	42	3	42	---	---	---	---
CHDH	55349	broad.mit.edu	37	3	53854550	53854550	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:53854550C>A	ENST00000315251.6	-	6	1508	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	357					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.K357N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCCGCAGGGGCTTCTGTGCTG	0.552																																						uc003dgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1069-1071)AAG>AAT		choline dehydrogenase precursor	Choline(DB00122)						163.0	155.0	158.0					3																	53854550		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53854550C>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1071G>T	3.37:g.53854550C>A	ENSP00000319851:p.Lys357Asn						p.K357N	NM_018397	NP_060867	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	6	1511	-		Hepatocellular(537;0.152)	357					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1071G>T	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	7.334	0.619489	0.14129	.	.	ENSG00000016391	ENST00000315251	T	0.41758	0.99	5.58	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	N	0.13235	0.315	0.58432	D	0.999999	B	0.13145	0.007	B	0.14578	0.011	T	0.05835	-1.0861	10	0.11794	T	0.64	-40.2686	14.6732	0.68958	0.0:0.9301:0.0:0.0699	.	357	Q8NE62	CHDH_HUMAN	N	357	ENSP00000319851:K357N	ENSP00000319851:K357N	K	-	3	2	CHDH	53829590	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	0.900000	0.28431	1.377000	0.46286	-0.137000	0.14449	AAG		PASS	0.552	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		6	104	6	104	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983199	97983199	+	Nonsense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:97983199T>A	ENST00000383696.2	+	1	112	c.71T>A	c.(70-72)tTg>tAg	p.L24*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L24*(1)|p.L24S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AATGCAACATTGCTGACAGAG	0.408																																						uc003dsi.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(2)|large_intestine(1)	3						c.(70-72)TTG>TAG		olfactory receptor, family 5, subfamily H,							148.0	150.0	149.0					3																	97983199		2203	4300	6503	SO:0001587	stop_gained	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983199T>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.71T>A	3.37:g.97983199T>A	ENSP00000373196:p.Leu24*						p.L24*	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	71	+			24			Extracellular (Potential).		Q6IF88	Nonsense_Mutation	SNP	ENST00000383696.2	37	c.71T>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	15.03	2.712368	0.48517	.	.	ENSG00000230301	ENST00000383696	.	.	.	2.19	0.873	0.19118	.	0.489617	0.15071	N	0.282191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	4.8941	0.13742	0.5063:0.0:0.0:0.4936	.	.	.	.	X	24	.	ENSP00000373196:L24X	L	+	2	0	OR5H6	99465889	0.000000	0.05858	0.000000	0.03702	0.236000	0.25371	-0.549000	0.06041	0.080000	0.16959	0.163000	0.16589	TTG		PASS	0.408	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			22	138	22	138	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98538223	98538223	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:98538223C>A	ENST00000326840.6	-	8	1272	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S	DCBLD2_ENST00000469648.1_5'Flank|DCBLD2_ENST00000326857.9_Missense_Mutation_p.A304S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	304	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.A304S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TGAGGATCCGCGATCACACCA	0.443																																						uc003dtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(910-912)GCG>TCG		discoidin, CUB and LCCL domain containing 2							95.0	83.0	87.0					3																	98538223		1923	4133	6056	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98538223C>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.910G>T	3.37:g.98538223C>A	ENSP00000321573:p.Ala304Ser					DCBLD2_uc003dte.2_Missense_Mutation_p.A304S	p.A304S	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN			8	1273	-			304			Extracellular (Potential).|F5/8 type C.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.910G>T	CCDS46878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.517|5.517	0.280346|0.280346	0.10458|0.10458	.|.	.|.	ENSG00000057019|ENSG00000057019	ENST00000326840;ENST00000326857|ENST00000404023	D;D|.	0.82167|.	-1.58;-1.58|.	5.25|5.25	3.34|3.34	0.38264|0.38264	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);|.	0.299266|.	0.37437|.	N|.	0.002095|.	T|T	0.18593|0.18593	0.0446|0.0446	N|N	0.04297|0.04297	-0.235|-0.235	0.09310|0.09310	N|N	1|1	B;B|.	0.21309|.	0.054;0.054|.	B;B|.	0.15484|.	0.013;0.012|.	T|T	0.06972|0.06972	-1.0797|-1.0797	10|6	0.08179|0.36615	T|T	0.78|0.2	-21.9123|-21.9123	7.8704|7.8704	0.29563|0.29563	0.1606:0.5505:0.2889:0.0|0.1606:0.5505:0.2889:0.0	.|.	304;304|.	Q96PD2-2;Q96PD2|.	.;DCBD2_HUMAN|.	S|L	304|258	ENSP00000321573:A304S;ENSP00000321646:A304S|.	ENSP00000321573:A304S|ENSP00000385656:R258L	A|R	-|-	1|2	0|0	DCBLD2|DCBLD2	100020913|100020913	0.752000|0.752000	0.28338|0.28338	0.181000|0.181000	0.23098|0.23098	0.929000|0.929000	0.56500|0.56500	1.367000|1.367000	0.34204|0.34204	2.616000|2.616000	0.88540|0.88540	0.585000|0.585000	0.79938|0.79938	GCG|CGC		PASS	0.443	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		20	80	20	80	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99514646	99514646	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:99514646A>C	ENST00000261037.3	+	5	2281	c.1901A>C	c.(1900-1902)aAg>aCg	p.K634T	COL8A1_ENST00000273342.4_Missense_Mutation_p.K634T	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	634	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.K634T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCCCAGTGAAGTTTAACAAA	0.537																																						uc003dtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1900-1902)AAG>ACG		alpha 1 type VIII collagen precursor							58.0	61.0	60.0					3																	99514646		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514646A>C	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1901A>C	3.37:g.99514646A>C	ENSP00000261037:p.Lys634Thr					COL8A1_uc003dth.1_Missense_Mutation_p.K634T|COL8A1_uc003dti.1_Missense_Mutation_p.K635T	p.K634T	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	2146	+			634			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1901A>C	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.932411	0.34096	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.85556	-2.0;-2.0	5.82	4.67	0.58626	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.239860	0.44688	D	0.000426	D	0.83510	0.5270	L	0.54908	1.71	0.35858	D	0.827243	B;B	0.21071	0.051;0.02	B;B	0.37508	0.252;0.186	T	0.80011	-0.1561	10	0.23302	T	0.38	.	10.0106	0.41984	0.9203:0.0:0.0797:0.0	.	635;634	E7EPK9;P27658	.;CO8A1_HUMAN	T	634	ENSP00000261037:K634T;ENSP00000273342:K634T	ENSP00000261037:K634T	K	+	2	0	COL8A1	100997336	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.804000	0.62554	1.037000	0.40024	0.460000	0.39030	AAG		PASS	0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		10	30	10	30	---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100093869	100093869	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:100093869C>A	ENST00000284320.5	-	7	1668	c.1220G>T	c.(1219-1221)cGa>cTa	p.R407L		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	407					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.R407L(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TACCTGTCCTCGGTGGTGATA	0.413																																						uc003dtw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1219-1221)CGA>CTA		translocase of outer mitochondrial membrane 70							121.0	114.0	116.0					3																	100093869		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100093869C>A	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1220G>T	3.37:g.100093869C>A	ENSP00000284320:p.Arg407Leu						p.R407L	NM_014820	NP_055635	O94826	TOM70_HUMAN			7	1652	-			407			Cytoplasmic (Potential).|TPR 6.		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1220G>T	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281011	0.95489	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.55413	0.52	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75107	-0.3434	10	0.40728	T	0.16	-9.0694	19.9574	0.97228	0.0:1.0:0.0:0.0	.	407	O94826	TOM70_HUMAN	L	407;300	ENSP00000284320:R407L	ENSP00000284320:R407L	R	-	2	0	TOMM70A	101576559	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.432000	0.80349	2.715000	0.92844	0.561000	0.74099	CGA		PASS	0.413	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			5	100	5	100	---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100093992	100093992	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:100093992C>A	ENST00000284320.5	-	7	1545	c.1097G>T	c.(1096-1098)cGa>cTa	p.R366L		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	366					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.R366L(1)|p.R366Q(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AGCATTTGCTCGAAGCTATAT	0.398																																						uc003dtw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1096-1098)CGA>CTA		translocase of outer mitochondrial membrane 70							120.0	119.0	120.0					3																	100093992		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100093992C>A	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1097G>T	3.37:g.100093992C>A	ENSP00000284320:p.Arg366Leu						p.R366L	NM_014820	NP_055635	O94826	TOM70_HUMAN			7	1529	-			366			Cytoplasmic (Potential).		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1097G>T	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205910	0.79127	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.58506	0.33	5.76	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.234702	0.44097	D	0.000492	T	0.72162	0.3426	M	0.79011	2.435	0.80722	D	1	D	0.58970	0.984	P	0.61533	0.89	T	0.71163	-0.4673	10	0.22706	T	0.39	-3.8615	14.8892	0.70594	0.0:0.9311:0.0:0.0689	.	366	O94826	TOM70_HUMAN	L	366;259	ENSP00000284320:R366L	ENSP00000284320:R366L	R	-	2	0	TOMM70A	101576682	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.076000	0.50081	1.436000	0.47453	0.561000	0.74099	CGA		PASS	0.398	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			6	230	6	230	---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100105095	100105095	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:100105095C>T	ENST00000284320.5	-	3	1040	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	198					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.E198K(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTAGCTTCTCATGGGCTTTT	0.328																																						uc003dtw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(592-594)GAG>AAG		translocase of outer mitochondrial membrane 70							175.0	171.0	172.0					3																	100105095		2203	4299	6502	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105095C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.592G>A	3.37:g.100105095C>T	ENSP00000284320:p.Glu198Lys						p.E198K	NM_014820	NP_055635	O94826	TOM70_HUMAN			3	1024	-			198			Cytoplasmic (Potential).		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.592G>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761345	0.96906	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.74209	-0.82	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85126	0.0972	10	0.30854	T	0.27	-19.2786	20.6593	0.99626	0.0:1.0:0.0:0.0	.	198	O94826	TOM70_HUMAN	K	198;91	ENSP00000284320:E198K	ENSP00000284320:E198K	E	-	1	0	TOMM70A	101587785	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.328	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			33	156	33	156	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100471739	100471739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:100471739C>A	ENST00000284322.5	-	33	2990	c.2881G>T	c.(2881-2883)Gag>Tag	p.E961*	ABI3BP_ENST00000383691.4_Nonsense_Mutation_p.E915*|ABI3BP_ENST00000471714.1_Nonsense_Mutation_p.E1663*	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	961					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.E962*(1)|p.E915*(1)|p.E1663*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCCTTACACTCTGAGTAAGAG	0.398																																						uc003dun.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(2881-2883)GAG>TAG		ABI gene family, member 3 (NESH) binding protein							97.0	89.0	91.0					3																	100471739		1852	4098	5950	SO:0001587	stop_gained	25890					extracellular space		g.chr3:100471739C>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2881G>T	3.37:g.100471739C>A	ENSP00000284322:p.Glu961*					ABI3BP_uc003duj.2_Nonsense_Mutation_p.E541*|ABI3BP_uc003duk.2_Nonsense_Mutation_p.E670*|ABI3BP_uc003dul.2_Nonsense_Mutation_p.E791*|ABI3BP_uc011bhd.1_Nonsense_Mutation_p.E915*|ABI3BP_uc003dum.2_Nonsense_Mutation_p.E372*	p.E961*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			33	2966	-			961					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Nonsense_Mutation	SNP	ENST00000284322.5	37	c.2881G>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.259924|8.259924	0.98729|0.98729	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691|ENST00000495591	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.049466|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81118	.|0.4756	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78568	.|-0.2154	.|3	0.72032|.	D|.	0.01|.	-23.797|-23.797	20.547|20.547	0.99278|0.99278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	1663;961;670;372;915|1016	.|.	ENSP00000284322:E961X|.	E|Q	-|-	1|3	0|2	ABI3BP|ABI3BP	101954429|101954429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.896000|5.896000	0.69822|0.69822	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAG|CAG		PASS	0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			7	93	7	93	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101051624	101051624	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:101051624C>A	ENST00000394095.2	-	18	2616	c.2563G>T	c.(2563-2565)Gta>Tta	p.V855L	SENP7_ENST00000358203.3_Missense_Mutation_p.V691L|SENP7_ENST00000394094.2_Missense_Mutation_p.V790L|SENP7_ENST00000348610.3_Missense_Mutation_p.V822L|SENP7_ENST00000394091.1_Missense_Mutation_p.V691L|SENP7_ENST00000394085.3_Missense_Mutation_p.V43L|SENP7_ENST00000314261.7_Missense_Mutation_p.V789L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	855	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.V855L(1)|p.V789L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACTCATTTACAGGTACAAAG	0.274																																						uc003dut.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(2563-2565)GTA>TTA		sentrin/SUMO-specific protease 7 isoform 1							81.0	82.0	81.0					3																	101051624		2202	4279	6481	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101051624C>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2563G>T	3.37:g.101051624C>A	ENSP00000377655:p.Val855Leu					SENP7_uc003duu.2_Missense_Mutation_p.V790L|SENP7_uc003duv.2_Missense_Mutation_p.V822L|SENP7_uc003duw.2_Missense_Mutation_p.V789L|SENP7_uc003dux.2_Missense_Mutation_p.V691L|SENP7_uc003dus.2_Missense_Mutation_p.V43L	p.V855L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			18	2674	-			855			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2563G>T	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965665	0.74131	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.50786	0.1636	M	0.63208	1.945	0.46849	D	0.999223	D;D;D;P;D	0.89917	1.0;0.983;0.961;0.858;0.998	D;P;P;P;D	0.83275	0.996;0.872;0.854;0.856;0.934	T	0.39078	-0.9631	10	0.27785	T	0.31	-10.2832	14.3207	0.66484	0.0:0.8516:0.1484:0.0	.	691;789;822;855;43	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	L	855;790;789;691;691;43;822	ENSP00000377655:V855L;ENSP00000377654:V790L;ENSP00000313624:V789L;ENSP00000377651:V691L;ENSP00000350936:V691L;ENSP00000377647:V43L;ENSP00000342159:V822L	ENSP00000313624:V789L	V	-	1	0	SENP7	102534314	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.132000	0.42083	2.422000	0.82143	0.491000	0.48974	GTA		PASS	0.274	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		6	151	6	151	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101283646	101283646	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:101283646G>T	ENST00000309922.6	+	2	175	c.21G>T	c.(19-21)atG>atT	p.M7I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	7					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.M7I(1)									TCCTCAAAATGAGTGTTAGTG	0.328																																						uc003duz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)ATG>ATT		RNA (guanine-9-) methyltransferase domain							163.0	155.0	157.0					3																	101283646		1807	4072	5879	SO:0001583	missense	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101283646G>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.21G>T	3.37:g.101283646G>T	ENSP00000312356:p.Met7Ile						p.M7I	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	169	+			7					Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.21G>T	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026915	0.35797	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.24538	2.48;1.85	6.04	6.04	0.98038	.	1.203180	0.05772	N	0.607004	T	0.45175	0.1329	N	0.24115	0.695	0.35583	D	0.806439	D	0.69078	0.997	D	0.73380	0.98	T	0.41680	-0.9495	10	0.87932	D	0	-12.6492	18.383	0.90457	0.0:0.0:1.0:0.0	.	7	Q7L0Y3	MRRP1_HUMAN	I	7	ENSP00000312356:M7I;ENSP00000419389:M7I	ENSP00000312356:M7I	M	+	3	0	RG9MTD1	102766336	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	4.446000	0.60014	2.873000	0.98535	0.563000	0.77884	ATG		PASS	0.328	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		10	259	10	259	---	---	---	---
NFKBIZ	64332	broad.mit.edu	37	3	101576002	101576002	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:101576002G>T	ENST00000326172.5	+	10	2025	c.1910G>T	c.(1909-1911)aGt>aTt	p.S637I	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.S515I|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S537I	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	637	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S637I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GAGCTGCCCAGTTGCCTGTCT	0.483																																						uc003dvp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1909-1911)AGT>ATT		nuclear factor of kappa light polypeptide gene							102.0	117.0	112.0					3																	101576002		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101576002G>T	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1910G>T	3.37:g.101576002G>T	ENSP00000325663:p.Ser637Ile					NFKBIZ_uc003dvo.2_Missense_Mutation_p.S537I|NFKBIZ_uc010hpo.2_Missense_Mutation_p.S537I|NFKBIZ_uc003dvq.2_Missense_Mutation_p.S515I	p.S637I	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			10	2025	+			637			Interaction with NFKB1/p50 (By similarity).|ANK 6.		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1910G>T	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795480	0.70452	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.56275	0.51;0.47;0.54;0.53	5.98	4.19	0.49359	Ankyrin repeat-containing domain (4);	0.368557	0.33959	N	0.004384	T	0.54481	0.1861	L	0.31157	0.91	0.29745	N	0.836785	D;D	0.69078	0.996;0.997	P;D	0.65010	0.905;0.931	T	0.54077	-0.8347	10	0.87932	D	0	-22.8536	6.8257	0.23883	0.2209:0.1292:0.6499:0.0	.	515;637	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	I	537;537;515;637	ENSP00000419800:S537I;ENSP00000377618:S537I;ENSP00000325593:S515I;ENSP00000325663:S637I	ENSP00000325593:S515I	S	+	2	0	NFKBIZ	103058692	0.246000	0.23909	0.999000	0.59377	0.988000	0.76386	2.087000	0.41653	0.860000	0.35481	0.591000	0.81541	AGT		PASS	0.483	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		6	116	6	116	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105250889	105250889	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:105250889C>A	ENST00000306107.5	+	4	938	c.438C>A	c.(436-438)ctC>ctA	p.L146L	ALCAM_ENST00000472644.2_Silent_p.L146L|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.L95L|ALCAM_ENST00000389927.4_5'Flank	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	146	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L146L(3)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CACTGTTTCTCGAAACAGAGC	0.348																																						uc003dvx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|breast(1)	3						c.(436-438)CTC>CTA		activated leukocyte cell adhesion molecule							143.0	152.0	149.0					3																	105250889		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105250889C>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.438C>A	3.37:g.105250889C>A						ALCAM_uc003dvw.1_Silent_p.L146L|ALCAM_uc003dvy.2_Silent_p.L146L|ALCAM_uc011bhh.1_Silent_p.L95L|ALCAM_uc010hpp.2_5'Flank	p.L146L	NM_001627	NP_001618	Q13740	CD166_HUMAN			4	978	+			146			Extracellular (Potential).|Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.438C>A	CCDS33810.1																																																																																				PASS	0.348	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		6	251	6	251	---	---	---	---
CCDC54	84692	broad.mit.edu	37	3	107097232	107097232	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:107097232C>A	ENST00000261058.1	+	1	1045	c.798C>A	c.(796-798)acC>acA	p.T266T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	266								p.T266T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCAGTGCTACCAAGTTAGAAG	0.423																																						uc003dwi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)ACC>ACA		coiled-coil domain containing 54							85.0	95.0	92.0					3																	107097232		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107097232C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.798C>A	3.37:g.107097232C>A							p.T266T	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	1045	+			266					Q96A43	Silent	SNP	ENST00000261058.1	37	c.798C>A	CCDS2949.1																																																																																				PASS	0.423	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		7	118	7	118	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049533	109049533	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:109049533C>G	ENST00000335658.6	-	5	571	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	173					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V173L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGCTCCCCCACAGGAGGAAGA	0.507																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(517-519)GTG>CTG		developmental pluripotency associated 4							74.0	80.0	78.0					3																	109049533		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049533C>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.517G>C	3.37:g.109049533C>G	ENSP00000335306:p.Val173Leu					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.V173L	p.V173L	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	572	-			173					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.517G>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062520	0.19987	.	.	ENSG00000121570	ENST00000335658	T	0.22539	1.95	4.24	0.426	0.16479	.	2.050610	0.02578	N	0.098495	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B;B	0.20887	0.049;0.0	B;B	0.19666	0.026;0.0	T	0.20974	-1.0259	9	.	.	.	-2.7557	4.0228	0.09673	0.0:0.4973:0.1986:0.3041	.	163;173	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	L	173	ENSP00000335306:V173L	.	V	-	1	0	DPPA4	110532223	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.133000	0.15912	0.049000	0.15920	0.563000	0.77884	GTG		PASS	0.507	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		12	93	12	93	---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111768698	111768698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:111768698G>T	ENST00000452346.2	+	8	970	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	TMPRSS7_ENST00000419127.1_Nonsense_Mutation_p.E197*			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	323	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E52*(1)|p.E197*(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAATTTGTGAACCCACAAG	0.368																																						uc010hqb.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(589-591)GAA>TAA		transmembrane protease, serine 7							131.0	118.0	122.0					3																	111768698		1834	4081	5915	SO:0001587	stop_gained	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111768698G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.967G>T	3.37:g.111768698G>T	ENSP00000398236:p.Glu323*					TMPRSS7_uc011bhr.1_Nonsense_Mutation_p.E52*	p.E197*	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			6	759	+			323			Extracellular (Potential).|CUB 1.		C9J8P7|E9PAS3|Q17RH4	Nonsense_Mutation	SNP	ENST00000452346.2	37	c.589G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.279402	0.97435	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.1065	0.81225	0.0:0.0:1.0:0.0	.	.	.	.	X	323;311;297;197	.	ENSP00000411645:E197X	E	+	1	0	TMPRSS7	113251388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.976000	0.76135	2.850000	0.98022	0.650000	0.86243	GAA		PASS	0.368	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		7	124	7	124	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111927116	111927116	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:111927116C>A	ENST00000305815.5	-	16	2147	c.1895G>T	c.(1894-1896)tGg>tTg	p.W632L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.W584L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	632	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.W632L(1)									CTGGGATATCCAAGAGATTAT	0.299																																						uc003dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1894-1896)TGG>TTG		sperm-specific sodium proton exchanger							100.0	120.0	113.0					3																	111927116		2202	4296	6498	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111927116C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1895G>T	3.37:g.111927116C>A	ENSP00000306627:p.Trp632Leu					SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.W584L	p.W632L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			16	2117	-			632			Helical; (Potential).|Ion transport-like.		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1895G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	8.836	0.941089	0.18281	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.96745	-4.11;-4.11	5.65	5.65	0.86999	.	0.338236	0.26272	N	0.025330	D	0.91935	0.7446	L	0.33485	1.01	0.38440	D	0.946686	B;P	0.46395	0.037;0.877	B;B	0.40636	0.039;0.335	D	0.90823	0.4710	10	0.02654	T	1	-17.4175	15.6539	0.77118	0.0:1.0:0.0:0.0	.	584;632	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	632;584	ENSP00000306627:W632L;ENSP00000420688:W584L	ENSP00000306627:W632L	W	-	2	0	SLC9A10	113409806	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	1.648000	0.37271	2.832000	0.97577	0.603000	0.83216	TGG		PASS	0.299	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		11	252	11	252	---	---	---	---
GRAMD1C	54762	broad.mit.edu	37	3	113595041	113595041	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:113595041C>T	ENST00000358160.4	+	5	885	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	131	GRAM.					integral component of membrane (GO:0016021)		p.F131F(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATATAACCTTCATGACCAAGG	0.299																																						uc003eaq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(391-393)TTC>TTT		GRAM domain containing 1C							91.0	97.0	95.0					3																	113595041		2203	4300	6503	SO:0001819	synonymous_variant	54762					integral to membrane		g.chr3:113595041C>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.393C>T	3.37:g.113595041C>T						GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron	p.F131F	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			5	469	+			131			GRAM.		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	c.393C>T	CCDS33826.1																																																																																				PASS	0.299	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		26	168	26	168	---	---	---	---
GRAMD1C	54762	broad.mit.edu	37	3	113623041	113623041	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:113623041C>A	ENST00000358160.4	+	8	1203	c.711C>A	c.(709-711)tcC>tcA	p.S237S	GRAMD1C_ENST00000472026.1_Silent_p.S70S|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.S32S|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	237						integral component of membrane (GO:0016021)		p.S237S(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAAAATTATCCAAGTCAATCA	0.373																																						uc003eaq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(709-711)TCC>TCA		GRAM domain containing 1C							83.0	90.0	88.0					3																	113623041		2203	4300	6503	SO:0001819	synonymous_variant	54762					integral to membrane		g.chr3:113623041C>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.711C>A	3.37:g.113623041C>A						GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron|GRAMD1C_uc003ear.2_Silent_p.S70S|GRAMD1C_uc003eas.2_Silent_p.S32S	p.S237S	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			8	787	+			237					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	c.711C>A	CCDS33826.1																																																																																				PASS	0.373	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		6	70	6	70	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113697729	113697729	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:113697729C>A	ENST00000295878.3	-	15	2582	c.2436G>T	c.(2434-2436)aaG>aaT	p.K812N	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	812								p.K812N(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GGATGACTCTCTTAAGCAGTA	0.418																																						uc003eax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2434-2436)AAG>AAT		hypothetical protein LOC57577							193.0	191.0	192.0					3																	113697729		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113697729C>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2436G>T	3.37:g.113697729C>A	ENSP00000295878:p.Lys812Asn					KIAA1407_uc011bin.1_RNA	p.K812N	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			15	2583	-			812					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2436G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312055	0.40895	.	.	ENSG00000163617	ENST00000295878	T	0.33216	1.42	5.27	3.48	0.39840	.	0.163055	0.53938	D	0.000048	T	0.15696	0.0378	N	0.08118	0	0.80722	D	1	B	0.21905	0.062	B	0.24155	0.051	T	0.05484	-1.0882	10	0.72032	D	0.01	.	7.4872	0.27441	0.0:0.7325:0.0:0.2675	.	812	Q8NCU4	K1407_HUMAN	N	812	ENSP00000295878:K812N	ENSP00000295878:K812N	K	-	3	2	KIAA1407	115180419	0.213000	0.23551	0.794000	0.32065	0.833000	0.47200	0.887000	0.28254	0.707000	0.31934	0.555000	0.69702	AAG		PASS	0.418	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		10	221	10	221	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121207700	121207700	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:121207700G>T	ENST00000264233.5	-	16	4206	c.4078C>A	c.(4078-4080)Caa>Aaa	p.Q1360K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1360					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q1495K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAGTTCTGTTGGACTAAGCTC	0.433								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4078-4080)CAA>AAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							199.0	179.0	186.0					3																	121207700		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207700G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4078C>A	3.37:g.121207700G>T	ENSP00000264233:p.Gln1360Lys					POLQ_uc003eed.2_Missense_Mutation_p.Q532K	p.Q1360K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4207	-			1360					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4078C>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0.306	-0.970669	0.02232	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.41065	1.01	5.81	-1.31	0.09230	.	1.737380	0.02718	N	0.113663	T	0.14098	0.0341	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24835	-1.0149	10	0.05721	T	0.95	.	2.9953	0.05996	0.1059:0.1251:0.3379:0.431	.	1360;532	O75417;O75417-2	DPOLQ_HUMAN;.	K	983;1360;1496	ENSP00000264233:Q1360K	ENSP00000264233:Q1360K	Q	-	1	0	POLQ	122690390	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.167000	0.16602	-0.106000	0.12110	-1.321000	0.01291	CAA		PASS	0.433	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		8	141	8	141	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208219	121208219	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:121208219G>T	ENST00000264233.5	-	16	3687	c.3559C>A	c.(3559-3561)Cat>Aat	p.H1187N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1187					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.H1322N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGATGTCATGGTGTTTCATA	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3559-3561)CAT>AAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							234.0	238.0	236.0					3																	121208219		2202	4300	6502	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208219G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3559C>A	3.37:g.121208219G>T	ENSP00000264233:p.His1187Asn					POLQ_uc003eed.2_Missense_Mutation_p.H359N	p.H1187N	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3688	-			1187					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3559C>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.280824	0.01398	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.49139	0.79	5.35	-2.65	0.06095	.	1.397500	0.04051	N	0.304743	T	0.31199	0.0789	L	0.27053	0.805	0.09310	N	1	B;P	0.37276	0.09;0.589	B;B	0.35813	0.014;0.211	T	0.14559	-1.0468	10	0.17369	T	0.5	.	7.5881	0.28004	0.5268:0.0:0.3584:0.1147	.	1187;359	O75417;O75417-2	DPOLQ_HUMAN;.	N	810;1187;1323	ENSP00000264233:H1187N	ENSP00000264233:H1187N	H	-	1	0	POLQ	122690909	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.452000	0.06787	-0.600000	0.05790	-1.119000	0.02030	CAT		PASS	0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		9	263	9	263	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121410244	121410244	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:121410244G>T	ENST00000340645.5	-	14	8077	c.7952C>A	c.(7951-7953)tCt>tAt	p.S2651Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2656Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2651					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.S2651Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCTTTTGAGAGGAGGAAAA	0.378																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(7951-7953)TCT>TAT		golgi autoantigen, golgin subfamily b,							153.0	157.0	156.0					3																	121410244		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410244G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7952C>A	3.37:g.121410244G>T	ENSP00000341848:p.Ser2651Tyr					GOLGB1_uc010hrc.2_Missense_Mutation_p.S2656Y|GOLGB1_uc003eej.3_Missense_Mutation_p.S2617Y	p.S2651Y	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8078	-			2651			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7952C>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969967	0.18659	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16597	2.33;2.33	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000007	T	0.32346	0.0826	M	0.70595	2.14	0.43234	D	0.995136	D;D;P	0.76494	0.999;0.999;0.923	D;D;P	0.73380	0.98;0.98;0.748	T	0.32161	-0.9917	10	0.02654	T	1	.	10.3693	0.44044	0.0886:0.0:0.9113:0.0	.	2656;2656;2651	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Y	2651;2656	ENSP00000341848:S2651Y;ENSP00000377275:S2656Y	ENSP00000341848:S2651Y	S	-	2	0	GOLGB1	122892934	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	6.045000	0.71020	2.568000	0.86640	0.655000	0.94253	TCT		PASS	0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		10	241	10	241	---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123665977	123665977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:123665977C>A	ENST00000488653.2	-	8	1108	c.1018G>T	c.(1018-1020)Gga>Tga	p.G340*	CCDC14_ENST00000310351.4_Nonsense_Mutation_p.G180*|CCDC14_ENST00000489746.1_Nonsense_Mutation_p.G140*|CCDC14_ENST00000433542.2_Nonsense_Mutation_p.G299*|CCDC14_ENST00000485727.1_Nonsense_Mutation_p.G140*|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	340					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.G299*(1)|p.G180*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTATGAATTCCTTGTTGTGGC	0.418																																						uc011bjx.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1018-1020)GGA>TGA		coiled-coil domain containing 14							114.0	109.0	111.0					3																	123665977		2203	4300	6503	SO:0001587	stop_gained	64770					centrosome		g.chr3:123665977C>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1018G>T	3.37:g.123665977C>A	ENSP00000420180:p.Gly340*					CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Nonsense_Mutation_p.G140*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.G299*|CCDC14_uc003egy.3_Nonsense_Mutation_p.G140*|CCDC14_uc003egz.2_Nonsense_Mutation_p.G140*	p.G340*	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	8	1109	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	340					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Nonsense_Mutation	SNP	ENST00000488653.2	37	c.1018G>T		.	.	.	.	.	.	.	.	.	.	C	16.11	3.031614	0.54790	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	.	.	.	5.5	3.26	0.37387	.	0.728524	0.12382	N	0.473840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.7105	0.34380	0.0:0.7703:0.0:0.2297	.	.	.	.	X	340;180;140;140;299;321	.	ENSP00000312031:G180X	G	-	1	0	CCDC14	125148667	0.977000	0.34250	0.404000	0.26397	0.414000	0.31173	1.328000	0.33758	0.583000	0.29574	0.655000	0.94253	GGA		PASS	0.418	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		7	115	7	115	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124998070	124998070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:124998070C>A	ENST00000360647.4	-	6	966	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.G161*|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.G161*|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_5'Flank|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.G161*	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	161					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G161*(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CCAAGTGATCCATCCTCATTT	0.299																																						uc003ehx.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(481-483)GGA>TGA		zinc finger protein 148							119.0	121.0	121.0					3																	124998070		2203	4300	6503	SO:0001587	stop_gained	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124998070C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.481G>T	3.37:g.124998070C>A	ENSP00000353863:p.Gly161*					SLC12A8_uc003ehw.3_5'UTR|ZNF148_uc003ehz.3_Nonsense_Mutation_p.G161*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.G161*|ZNF148_uc003eia.3_Nonsense_Mutation_p.G161*|ZNF148_uc003ehy.2_Intron	p.G161*	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			6	967	-			161					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Nonsense_Mutation	SNP	ENST00000360647.4	37	c.481G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	44	10.922897	0.99489	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.7779	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	.	G	-	1	0	ZNF148	126480760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.616000	0.88540	0.585000	0.79938	GGA		PASS	0.299	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		7	125	7	125	---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125286249	125286249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:125286249G>T	ENST00000296220.5	-	6	1146	c.857C>A	c.(856-858)tCa>tAa	p.S286*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	286					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.S286*(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGAAGGCAATGAGCCCTTCTG	0.393																																						uc003eic.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(856-858)TCA>TAA		oxysterol binding protein-like 11							171.0	163.0	166.0					3																	125286249		2203	4300	6503	SO:0001587	stop_gained	114885				lipid transport		lipid binding	g.chr3:125286249G>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.857C>A	3.37:g.125286249G>T	ENSP00000296220:p.Ser286*						p.S286*	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			6	1594	-			286					A8K9I7	Nonsense_Mutation	SNP	ENST00000296220.5	37	c.857C>A	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	39	7.821250	0.98507	.	.	ENSG00000144909	ENST00000296220	.	.	.	4.68	4.68	0.58851	.	0.606445	0.16519	N	0.210909	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.6428	11.3055	0.49332	0.0828:0.0:0.9172:0.0	.	.	.	.	X	286	.	ENSP00000296220:S286X	S	-	2	0	OSBPL11	126768939	1.000000	0.71417	0.957000	0.39632	0.980000	0.70556	6.830000	0.75319	2.415000	0.81967	0.655000	0.94253	TCA		PASS	0.393	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		8	125	8	125	---	---	---	---
KBTBD12	166348	broad.mit.edu	37	3	127646667	127646667	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:127646667C>A	ENST00000405109.1	+	3	1598	c.1131C>A	c.(1129-1131)ctC>ctA	p.L377L	KBTBD12_ENST00000405256.1_Silent_p.L377L|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.S19Y			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	377								p.L377L(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTCGAGAACTCTATGCTCTGG	0.368																																						uc010hsr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1129-1131)CTC>CTA		kelch domain containing 6							145.0	152.0	150.0					3																	127646667		2203	4300	6503	SO:0001819	synonymous_variant	166348							g.chr3:127646667C>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1131C>A	3.37:g.127646667C>A						KBTBD12_uc003ejy.3_5'UTR|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.S19Y|KBTBD12_uc003ejz.2_Silent_p.L377L	p.L377L	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			2	1134	+			377					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1131C>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126634	0.37533	.	.	ENSG00000187715	ENST00000343941	D	0.83335	-1.71	5.94	-2.85	0.05734	.	1.995080	0.01962	N	0.043420	T	0.73210	0.3558	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57493	-0.7802	9	0.87932	D	0	.	2.2694	0.04086	0.3246:0.2233:0.3199:0.1323	.	19	Q3ZCT8-2	.	Y	19	ENSP00000345478:S19Y	ENSP00000345478:S19Y	S	+	2	0	KBTBD12	129129357	0.027000	0.19231	0.976000	0.42696	0.986000	0.74619	-0.841000	0.04359	-0.500000	0.06614	-0.467000	0.05162	TCT		PASS	0.368	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		11	284	11	284	---	---	---	---
ACAD9	28976	broad.mit.edu	37	3	128629610	128629610	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:128629610G>T	ENST00000308982.7	+	17	1800	c.1719G>T	c.(1717-1719)gtG>gtT	p.V573V	KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	573						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.V573V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTTCTGCGTGGAAGCTTACT	0.522																																						uc003ela.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1717-1719)GTG>GTT		acyl-Coenzyme A dehydrogenase family, member 9							177.0	180.0	179.0					3																	128629610		2203	4300	6503	SO:0001819	synonymous_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128629610G>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1719G>T	3.37:g.128629610G>T						KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Silent_p.V450V|ACAD9_uc003elb.2_Silent_p.V450V|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Silent_p.V225V|uc003elf.1_Intron	p.V573V	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			17	1921	+			573					D3DNB8|Q8WXX3	Silent	SNP	ENST00000308982.7	37	c.1719G>T	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	3.633	-0.075226	0.07184	.	.	ENSG00000177646	ENST00000406840	.	.	.	5.31	-3.6	0.04570	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.1772	0.03865	0.4519:0.2271:0.205:0.116	.	.	.	.	X	50	.	ENSP00000384784:G50X	G	+	1	0	ACAD9	130112300	0.000000	0.05858	0.007000	0.13788	0.586000	0.36452	-0.905000	0.04075	-0.390000	0.07774	-0.126000	0.14955	GGA		PASS	0.522	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		9	249	9	249	---	---	---	---
ISY1	57461	broad.mit.edu	37	3	128852994	128852994	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:128852994G>T	ENST00000393295.3	-	9	903	c.586C>A	c.(586-588)Cgg>Agg	p.R196R	ISY1-RAB43_ENST00000418265.1_Silent_p.R196R|ISY1_ENST00000273541.8_Silent_p.R218R|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393292.3_Nonsense_Mutation_p.S197*	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	196					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.R196R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CTTGCCAGCCGAGCCTCTCTC	0.502																																						uc003elo.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(586-588)CGG>AGG		ISY1 splicing factor homolog							110.0	114.0	113.0					3																	128852994		1955	4160	6115	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128852994G>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.586C>A	3.37:g.128852994G>T						ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Silent_p.R196R|ISY1_uc010hta.1_Silent_p.R218R	p.R196R	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			9	797	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	c.586C>A	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613616	0.87359	.	.	ENSG00000240682	ENST00000393292	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.9064	0.63839	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000376970:S197X	S	-	2	0	ISY1	130335684	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.331000	0.52075	2.650000	0.89964	0.585000	0.79938	TCG		PASS	0.502	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		5	94	5	94	---	---	---	---
RHO	6010	broad.mit.edu	37	3	129251164	129251164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:129251164G>T	ENST00000296271.3	+	3	695	c.601G>T	c.(601-603)Gag>Tag	p.E201*		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	201					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.E201*(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GGTCAACAACGAGTCTTTTGT	0.542																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(601-603)GAG>TAG		rhodopsin	Halothane(DB01159)						294.0	234.0	255.0					3																	129251164		2203	4300	6503	SO:0001587	stop_gained	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251164G>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.601G>T	3.37:g.129251164G>T	ENSP00000296271:p.Glu201*						p.E201*	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	3	696	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	201			Extracellular.	Zinc (By similarity).	Q16414|Q2M249	Nonsense_Mutation	SNP	ENST00000296271.3	37	c.601G>T	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329009	0.81690	.	.	ENSG00000163914	ENST00000296271	.	.	.	5.19	5.19	0.71726	.	0.097562	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.084	0.93194	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000296271:E201X	E	+	1	0	RHO	130733854	1.000000	0.71417	0.981000	0.43875	0.396000	0.30629	5.065000	0.64344	2.575000	0.86900	0.561000	0.74099	GAG		PASS	0.542	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		5	87	5	87	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130174503	130174503	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:130174503C>A	ENST00000432398.2	+	37	7277	c.6783C>A	c.(6781-6783)ctC>ctA	p.L2261L	COL6A5_ENST00000265379.6_Silent_p.L2261L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2261	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L300L(1)|p.L2261L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTGCAAGTCTCACTTCTGGTA	0.318																																						uc010htj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(6781-6783)CTC>CTA		collagen, type XXIX, alpha 1							39.0	38.0	38.0					3																	130174503		1805	4068	5873	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130174503C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6783C>A	3.37:g.130174503C>A						COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Silent_p.L300L	p.L2261L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7277	+			2261			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.6783C>A		.	.	.	.	.	.	.	.	.	.	C	0.085	-1.176841	0.01646	.	.	ENSG00000172752	ENST00000512836	.	.	.	4.18	0.354	0.16063	.	.	.	.	.	T	0.51753	0.1693	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	T	0.39800	-0.9596	4	.	.	.	.	6.0047	0.19539	0.0:0.5344:0.0:0.4656	.	.	.	.	N	513	.	.	H	+	1	0	COL6A5	131657193	0.164000	0.22935	0.895000	0.35142	0.048000	0.14542	-0.040000	0.12104	0.166000	0.19597	0.650000	0.86243	CAC		PASS	0.318	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		7	113	7	113	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132172954	132172954	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:132172954C>A	ENST00000260818.6	+	9	1133	c.885C>A	c.(883-885)acC>acA	p.T295T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	295					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.T295T(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACTTTTTACCATTGAATTTA	0.289																																						uc003eor.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(883-885)ACC>ACA		DnaJ (Hsp40) homolog, subfamily C, member 13							80.0	94.0	89.0					3																	132172954		2201	4293	6494	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132172954C>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.885C>A	3.37:g.132172954C>A						DNAJC13_uc010htq.1_Silent_p.T295T|DNAJC13_uc003eos.1_5'Flank	p.T295T	NM_015268	NP_056083	O75165	DJC13_HUMAN			9	950	+			295					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.885C>A	CCDS33857.1																																																																																				PASS	0.289	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		11	344	11	344	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098645	133098645	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:133098645G>T	ENST00000321871.6	+	4	300	c.90G>T	c.(88-90)caG>caT	p.Q30H	TMEM108_ENST00000515826.1_Missense_Mutation_p.Q30H|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.Q30H	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	30						integral component of membrane (GO:0016021)		p.Q30H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGCCATCCAGGAACCATCTC	0.537																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(88-90)CAG>CAT		transmembrane protein 108 precursor							273.0	285.0	281.0					3																	133098645		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098645G>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.90G>T	3.37:g.133098645G>T	ENSP00000324651:p.Gln30His					TMEM108_uc003epi.2_Missense_Mutation_p.Q30H|TMEM108_uc003epj.1_Missense_Mutation_p.Q30H|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Translation_Start_Site	p.Q30H	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	364	+			30			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.90G>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	15.73	2.918692	0.52546	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	4.26	3.37	0.38596	.	0.238103	0.21919	N	0.067198	T	0.40670	0.1126	N	0.22421	0.69	0.29116	N	0.880571	B;B	0.22683	0.073;0.043	B;B	0.25884	0.064;0.027	T	0.39121	-0.9629	10	0.46703	T	0.11	-1.1525	14.5109	0.67787	0.0:0.1473:0.8527:0.0	.	30;30	E9PB58;Q6UXF1	.;TM108_HUMAN	H	30	ENSP00000324651:Q30H;ENSP00000376838:Q30H;ENSP00000426301:Q30H;ENSP00000422196:Q30H;ENSP00000423338:Q30H;ENSP00000421486:Q30H	ENSP00000324651:Q30H	Q	+	3	2	TMEM108	134581335	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.546000	0.53656	0.900000	0.36469	0.556000	0.70494	CAG		PASS	0.537	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		10	292	10	292	---	---	---	---
TF	7018	broad.mit.edu	37	3	133496080	133496080	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:133496080C>T	ENST00000402696.3	+	16	2545	c.2060C>T	c.(2059-2061)tCa>tTa	p.S687L	TF_ENST00000264998.3_Missense_Mutation_p.S560L	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	687					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.S687L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TGCTCCACCTCATGTGAGTAG	0.488																																						uc003epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2059-2061)TCA>TTA		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						57.0	56.0	57.0					3																	133496080		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133496080C>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.2060C>T	3.37:g.133496080C>T	ENSP00000385834:p.Ser687Leu					TF_uc011blt.1_Missense_Mutation_p.S560L|TF_uc003epw.1_Missense_Mutation_p.S126L|TF_uc003epv.1_Missense_Mutation_p.S687L	p.S687L	NM_001063	NP_001054	P02787	TRFE_HUMAN			21	3788	+			687					O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.2060C>T	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680869	0.88542	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.08896	3.04;3.04	5.36	5.36	0.76844	.	0.707111	0.14434	N	0.319834	T	0.37128	0.0992	M	0.89095	3.005	0.31269	N	0.691927	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42050	-0.9474	10	0.87932	D	0	-16.5912	16.1076	0.81236	0.0:1.0:0.0:0.0	.	413;687	B4DHZ6;P02787	.;TRFE_HUMAN	L	687;560	ENSP00000385834:S687L;ENSP00000264998:S560L	ENSP00000264998:S560L	S	+	2	0	TF	134978770	0.999000	0.42202	0.493000	0.27502	0.371000	0.29859	4.125000	0.57931	2.791000	0.96007	0.591000	0.81541	TCA		PASS	0.488	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		5	24	5	24	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134270794	134270794	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:134270794C>A	ENST00000337090.3	+	12	1580	c.1407C>A	c.(1405-1407)ctC>ctA	p.L469L	CEP63_ENST00000606977.1_Silent_p.L469L|CEP63_ENST00000383229.3_Silent_p.L469L|CEP63_ENST00000332047.5_Silent_p.L423L|CEP63_ENST00000354446.3_Silent_p.L423L|CEP63_ENST00000513612.2_Silent_p.L469L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	469					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.L469L(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGAGTCACTCAAATTAGAAA	0.323																																						uc003eqo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1405-1407)CTC>CTA		centrosomal protein 63 isoform a							82.0	93.0	90.0					3																	134270794		2203	4296	6499	SO:0001819	synonymous_variant	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134270794C>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1407C>A	3.37:g.134270794C>A						CEP63_uc003eql.1_Silent_p.L423L|CEP63_uc003eqm.2_Silent_p.L423L|CEP63_uc003eqn.1_Silent_p.L469L|CEP63_uc003eqp.1_Silent_p.L98L	p.L469L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			13	1856	+			469			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	c.1407C>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	0.367	-0.935980	0.02340	.	.	ENSG00000182923	ENST00000504929	.	.	.	4.94	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.8996	5.1809	0.15160	0.1313:0.5059:0.285:0.0778	.	.	.	.	X	158	.	.	S	+	2	0	CEP63	135753484	0.994000	0.37717	0.799000	0.32177	0.210000	0.24377	0.124000	0.15728	0.327000	0.23409	-0.237000	0.12165	TCA		PASS	0.323	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		13	360	13	360	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136035888	136035888	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:136035888C>A	ENST00000251654.4	+	10	1142	c.1072C>A	c.(1072-1074)Caa>Aaa	p.Q358K	PCCB_ENST00000468777.1_Missense_Mutation_p.Q389K|PCCB_ENST00000469217.1_Missense_Mutation_p.Q378K|PCCB_ENST00000482086.1_Missense_Mutation_p.Q242K|PCCB_ENST00000483687.1_Missense_Mutation_p.Q339K|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000490504.1_Missense_Mutation_p.Q301K|PCCB_ENST00000471595.1_Missense_Mutation_p.Q358K|PCCB_ENST00000462637.1_Missense_Mutation_p.Q335K|PCCB_ENST00000466072.1_Missense_Mutation_p.Q358K|PCCB_ENST00000478469.1_Intron	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	358	Acyl-CoA binding. {ECO:0000255}.|Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.Q358K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TGTTGGCAACCAACCTAAGGT	0.463																																						uc003eqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)CAA>AAA		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						166.0	157.0	160.0					3																	136035888		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136035888C>A		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1072C>A	3.37:g.136035888C>A	ENSP00000251654:p.Gln358Lys					PCCB_uc003eqz.1_Missense_Mutation_p.Q358K|PCCB_uc011bmc.1_Missense_Mutation_p.Q378K|PCCB_uc011bmd.1_Missense_Mutation_p.Q275K	p.Q358K	NM_000532	NP_000523	P05166	PCCB_HUMAN			10	1123	+			358			Acyl-CoA binding (Potential).|Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.1072C>A	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177825	0.78564	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;T;D;D;D	0.97791	-3.78;-3.78;-3.78;-3.78;-3.78;1.4;-3.78;-4.54;-3.78	4.65	4.65	0.58169	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.058771	0.64402	D	0.000001	D	0.99180	0.9716	H	0.99475	4.585	0.80722	D	1	P;P;P;P	0.45474	0.836;0.675;0.859;0.706	P;P;P;P	0.54346	0.518;0.528;0.749;0.645	D	0.98799	1.0739	10	0.87932	D	0	.	16.451	0.83990	0.0:1.0:0.0:0.0	.	275;378;358;358	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	K	358;301;339;389;335;358;242;358;378	ENSP00000251654:Q358K;ENSP00000418307:Q301K;ENSP00000420639:Q339K;ENSP00000419129:Q389K;ENSP00000420391:Q335K;ENSP00000420158:Q358K;ENSP00000417253:Q242K;ENSP00000417549:Q358K;ENSP00000419027:Q378K	ENSP00000251654:Q358K	Q	+	1	0	PCCB	137518578	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.924000	0.75823	2.416000	0.81992	0.484000	0.47621	CAA		PASS	0.463	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			8	196	8	196	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136078014	136078014	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:136078014C>A	ENST00000383202.2	-	27	3168	c.2912G>T	c.(2911-2913)cGa>cTa	p.R971L	STAG1_ENST00000236698.5_Missense_Mutation_p.R971L|STAG1_ENST00000536929.1_Missense_Mutation_p.R555L|STAG1_ENST00000434713.2_Missense_Mutation_p.R711L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	971					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.R971L(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						AACTGCTTCTCGTGTCTTAAT	0.408																																						uc003era.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2911-2913)CGA>CTA		stromal antigen 1							144.0	131.0	136.0					3																	136078014		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.chr3:136078014C>A	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.2912G>T	3.37:g.136078014C>A	ENSP00000372689:p.Arg971Leu					STAG1_uc003erb.1_Missense_Mutation_p.R971L	p.R971L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			27	3204	-			971					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2912G>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068207	0.93950	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.78364	0.64;0.77;-1.17;0.14	5.67	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91513	0.5228	10	0.87932	D	0	.	15.0172	0.71594	0.0:0.9306:0.0:0.0694	.	971;971	Q6P275;Q8WVM7	.;STAG1_HUMAN	L	971;971;711;555	ENSP00000372689:R971L;ENSP00000236698:R971L;ENSP00000404396:R711L;ENSP00000445787:R555L	ENSP00000236698:R971L	R	-	2	0	STAG1	137560704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.649000	0.89929	0.655000	0.94253	CGA		PASS	0.408	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		6	106	6	106	---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137963964	137963964	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:137963964G>C	ENST00000469044.1	+	12	1344	c.1073G>C	c.(1072-1074)cGc>cCc	p.R358P	ARMC8_ENST00000470821.1_Missense_Mutation_p.R358P|ARMC8_ENST00000491704.1_Missense_Mutation_p.R316P|ARMC8_ENST00000471453.1_Missense_Mutation_p.R344P|ARMC8_ENST00000461822.1_Missense_Mutation_p.R291P|ARMC8_ENST00000358441.2_Missense_Mutation_p.R344P|ARMC8_ENST00000489213.1_Missense_Mutation_p.R316P|ARMC8_ENST00000485396.1_Missense_Mutation_p.R285P|ARMC8_ENST00000481646.1_Missense_Mutation_p.R344P|ARMC8_ENST00000538260.1_Missense_Mutation_p.R327P|ARMC8_ENST00000393058.3_Missense_Mutation_p.R348P	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	358								p.R344P(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CACGAACTCCGCCAGGCTGCA	0.458																																						uc003esa.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1030-1032)CGC>CCC		armadillo repeat containing 8 isoform 2							81.0	76.0	78.0					3																	137963964		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137963964G>C		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1073G>C	3.37:g.137963964G>C	ENSP00000419413:p.Arg358Pro					ARMC8_uc003erw.2_Missense_Mutation_p.R344P|ARMC8_uc003erx.2_Missense_Mutation_p.R344P|ARMC8_uc003ery.2_Missense_Mutation_p.R316P|ARMC8_uc003erz.2_Missense_Mutation_p.R316P|ARMC8_uc011bmf.1_Missense_Mutation_p.R327P|ARMC8_uc011bmg.1_Missense_Mutation_p.R291P|ARMC8_uc011bmh.1_Missense_Mutation_p.R285P|ARMC8_uc003esb.1_Missense_Mutation_p.R316P|ARMC8_uc003esc.1_Missense_Mutation_p.R116P	p.R344P	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			13	1398	+			358					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1031G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882073|3.882073	0.72294|0.72294	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000469860|ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;1.77;1.06;0.03;0.04;1.77;1.76;0.01;-1.0;1.01	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87293|0.87293	0.6141|0.6141	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.76494	.|0.996;0.992;0.995;0.996;0.999;0.998;0.999	.|P;P;D;D;D;P;D	.|0.72982	.|0.89;0.796;0.931;0.979;0.972;0.888;0.917	D|D	0.89206|0.89206	0.3561|0.3561	5|10	.|0.72032	.|D	.|0.01	1.7974|1.7974	16.3802|16.3802	0.83458|0.83458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|285;291;327;358;344;358;344	.|B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.|.;.;.;ARMC8_HUMAN;.;.;.	P|P	72|344;358;316;344;316;291;285;344;358;327;348;252;215	.|ENSP00000420333:R344P;ENSP00000419413:R358P;ENSP00000417304:R316P;ENSP00000351221:R344P;ENSP00000418412:R316P;ENSP00000420706:R291P;ENSP00000417049:R285P;ENSP00000420440:R344P;ENSP00000418405:R358P;ENSP00000441592:R327P;ENSP00000376778:R348P;ENSP00000417403:R252P	.|ENSP00000351221:R344P	A|R	+|+	1|2	0|0	ARMC8|ARMC8	139446654|139446654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.013000|8.013000	0.88655|0.88655	2.441000|2.441000	0.82636|0.82636	0.650000|0.650000	0.86243|0.86243	GCC|CGC		PASS	0.458	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		13	78	13	78	---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	137988927	137988927	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:137988927C>A	ENST00000469044.1	+	16	1703	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	ARMC8_ENST00000491704.1_Missense_Mutation_p.Q436K|ARMC8_ENST00000461822.1_Missense_Mutation_p.Q411K|NME9_ENST00000383180.2_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.Q405K|ARMC8_ENST00000481646.1_Missense_Mutation_p.Q464K|ARMC8_ENST00000538260.1_Missense_Mutation_p.Q447K|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.Q468K|NME9_ENST00000536478.1_Intron|NME9_ENST00000484930.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	478								p.Q464K(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGGATTAACTCAGAGTGAAAA	0.363																																						uc003esa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)CAG>AAG		armadillo repeat containing 8 isoform 2							130.0	124.0	126.0					3																	137988927		1825	4082	5907	SO:0001583	missense	25852						binding	g.chr3:137988927C>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1432C>A	3.37:g.137988927C>A	ENSP00000419413:p.Gln478Lys					TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.Q447K|ARMC8_uc011bmg.1_Missense_Mutation_p.Q411K|ARMC8_uc011bmh.1_Missense_Mutation_p.Q405K|ARMC8_uc003esb.1_Missense_Mutation_p.Q436K|ARMC8_uc003esc.1_Missense_Mutation_p.Q236K|ARMC8_uc003esf.1_Missense_Mutation_p.Q47K	p.Q464K	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			17	1757	+			478			ARM 10.		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1390C>A		.	.	.	.	.	.	.	.	.	.	C	9.757	1.169127	0.21621	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;1.37;1.37;1.37;-0.1	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.058178	0.64402	D	0.000002	T	0.25938	0.0632	N	0.01438	-0.865	0.80722	D	1	B;P;B;B;B	0.35844	0.0;0.524;0.0;0.02;0.0	B;B;B;B;B	0.28849	0.0;0.095;0.001;0.013;0.0	T	0.49476	-0.8936	10	0.02654	T	1	-31.2485	10.508	0.44845	0.0:0.9122:0.0:0.0878	.	405;411;447;478;464	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	K	464;478;436;411;405;447;468;335	ENSP00000420333:Q464K;ENSP00000419413:Q478K;ENSP00000417304:Q436K;ENSP00000420706:Q411K;ENSP00000417049:Q405K;ENSP00000441592:Q447K;ENSP00000376778:Q468K	ENSP00000376778:Q468K	Q	+	1	0	ARMC8	139471617	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.081000	0.64444	2.631000	0.89168	0.650000	0.86243	CAG		PASS	0.363	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		7	99	7	99	---	---	---	---
CEP70	80321	broad.mit.edu	37	3	138291716	138291716	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:138291716G>T	ENST00000264982.3	-	3	320	c.54C>A	c.(52-54)ctC>ctA	p.L18L	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Silent_p.L18L|CEP70_ENST00000542237.1_Intron|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000464035.1_Silent_p.L18L|CEP70_ENST00000481834.1_Silent_p.L18L	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	18					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.L18L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCAGTCATGAGTCTGTCTG	0.338																																						uc003esl.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(52-54)CTC>CTA		centrosomal protein 70 kDa							130.0	138.0	135.0					3																	138291716		2203	4300	6503	SO:0001819	synonymous_variant	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138291716G>T	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.54C>A	3.37:g.138291716G>T						CEP70_uc011bmk.1_Intron|CEP70_uc011bml.1_5'UTR|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Silent_p.L18L|CEP70_uc003esn.2_Silent_p.L18L	p.L18L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			3	252	-			18					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	ENST00000264982.3	37	c.54C>A	CCDS3102.1																																																																																				PASS	0.338	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		9	244	9	244	---	---	---	---
MRPS22	56945	broad.mit.edu	37	3	139069035	139069035	+	Silent	SNP	C	C	A	rs139990376		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:139069035C>A	ENST00000495075.1	+	6	951	c.519C>A	c.(517-519)gtC>gtA	p.V173V	MRPS22_ENST00000465056.1_Silent_p.V172V|RP11-219D15.3_ENST00000608472.1_RNA|MRPS22_ENST00000310776.4_Silent_p.V173V|MRPS22_ENST00000478464.1_Silent_p.V132V			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	173						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.V173V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GTTTTATTGTCGTCAGAGAAC	0.393																																						uc003etb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(517-519)GTC>GTA		mitochondrial ribosomal protein S22							72.0	70.0	71.0					3																	139069035		2203	4300	6503	SO:0001819	synonymous_variant	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139069035C>A	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.519C>A	3.37:g.139069035C>A						MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Silent_p.V172V|MRPS22_uc003ete.2_Silent_p.V132V	p.V173V	NM_020191	NP_064576	P82650	RT22_HUMAN			4	527	+			173					Q9H3I1	Silent	SNP	ENST00000495075.1	37	c.519C>A	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144573	0.21288	.	.	ENSG00000175110	ENST00000480644	.	.	.	5.47	-5.89	0.02282	.	.	.	.	.	T	0.45316	0.1336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48328	-0.9045	4	.	.	.	-8.3637	5.4723	0.16676	0.1378:0.1254:0.085:0.6518	.	.	.	.	S	20	.	.	R	+	1	0	MRPS22	140551725	0.008000	0.16893	0.960000	0.40013	0.956000	0.61745	-1.262000	0.02852	-0.657000	0.05373	-0.136000	0.14681	CGT		PASS	0.393	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		4	57	4	57	---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139080022	139080022	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:139080022G>T	ENST00000333188.5	-	17	2292	c.2111C>A	c.(2110-2112)aCt>aAt	p.T704N	COPB2_ENST00000507777.1_Missense_Mutation_p.T675N	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	704					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.T704N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCAGAGGCAGTGGCCAAAAG	0.478																																						uc003etf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2110-2112)ACT>AAT		coatomer protein complex, subunit beta 2 (beta							150.0	141.0	144.0					3																	139080022		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139080022G>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2111C>A	3.37:g.139080022G>T	ENSP00000329419:p.Thr704Asn					COPB2_uc011bmv.1_Missense_Mutation_p.T675N|COPB2_uc010hui.2_Missense_Mutation_p.T675N	p.T704N	NM_004766	NP_004757	P35606	COPB2_HUMAN			17	2241	-			704					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.2111C>A	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255203	0.95336	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.64618	-0.11;0.0	5.39	5.39	0.77823	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.92026	3.265	0.80722	D	1	P	0.48764	0.915	P	0.58266	0.836	D	0.85069	0.0939	10	0.52906	T	0.07	-11.0022	19.1525	0.93495	0.0:0.0:1.0:0.0	.	704	P35606	COPB2_HUMAN	N	704;675	ENSP00000329419:T704N;ENSP00000422295:T675N	ENSP00000329419:T704N	T	-	2	0	COPB2	140562712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.646000	0.98474	2.495000	0.84180	0.650000	0.86243	ACT		PASS	0.478	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		7	170	7	170	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141499363	141499363	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:141499363C>A	ENST00000264952.2	+	2	897	c.760C>A	c.(760-762)Ctg>Atg	p.L254M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.L254M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CATTGTCTCTCTGGCCTATGC	0.517																																						uc011bnd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(760-762)CTG>ATG		G-protein-coupled receptor kinase 7 precursor							126.0	124.0	125.0					3																	141499363		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499363C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.760C>A	3.37:g.141499363C>A	ENSP00000264952:p.Leu254Met						p.L254M	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			2	844	+			254			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.760C>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466496	0.63625	.	.	ENSG00000114124	ENST00000264952	T	0.34472	1.36	5.1	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.46367	0.1389	L	0.45285	1.41	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	T	0.34004	-0.9846	10	0.36615	T	0.2	-12.429	7.1703	0.25715	0.0:0.7055:0.1435:0.1509	.	254	Q8WTQ7	GRK7_HUMAN	M	254	ENSP00000264952:L254M	ENSP00000264952:L254M	L	+	1	2	GRK7	142982053	0.994000	0.37717	0.990000	0.47175	0.997000	0.91878	3.805000	0.55575	1.070000	0.40811	0.655000	0.94253	CTG		PASS	0.517	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		8	122	8	122	---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141671423	141671423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:141671423C>A	ENST00000489671.1	-	13	1703	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*	TFDP2_ENST00000310282.6_Nonsense_Mutation_p.E365*|TFDP2_ENST00000486111.1_Nonsense_Mutation_p.E365*|TFDP2_ENST00000397991.4_Nonsense_Mutation_p.E397*|TFDP2_ENST00000499676.2_Nonsense_Mutation_p.E365*|TFDP2_ENST00000495310.1_Nonsense_Mutation_p.E328*|TFDP2_ENST00000479040.1_Nonsense_Mutation_p.E364*|TFDP2_ENST00000467072.1_Nonsense_Mutation_p.E365*|TFDP2_ENST00000317104.7_Nonsense_Mutation_p.E349*|TFDP2_ENST00000477292.1_Nonsense_Mutation_p.E289*			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	425					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E425*(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGGGGGTCTCGCCTCGGGAC	0.527																																						uc003eun.3																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(1273-1275)GAG>TAG		transcription factor Dp-2 (E2F dimerization							99.0	103.0	102.0					3																	141671423		1971	4157	6128	SO:0001587	stop_gained	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141671423C>A	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1273G>T	3.37:g.141671423C>A	ENSP00000420616:p.Glu425*					TFDP2_uc003euk.3_Nonsense_Mutation_p.E338*|TFDP2_uc010hur.2_Nonsense_Mutation_p.E365*|TFDP2_uc003eul.3_Nonsense_Mutation_p.E365*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.E328*|TFDP2_uc011bng.1_Nonsense_Mutation_p.E289*|TFDP2_uc003eum.3_Nonsense_Mutation_p.E365*	p.E425*	NM_006286	NP_006277	Q14188	TFDP2_HUMAN			13	1652	-			425					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Nonsense_Mutation	SNP	ENST00000489671.1	37	c.1273G>T	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139929	0.94560	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	.	.	.	5.95	5.08	0.68730	.	0.132322	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.5999	15.0812	0.72117	0.0:0.9323:0.0:0.0677	.	.	.	.	X	365;425;365;289;328;365;349;365;364;397	.	ENSP00000309622:E365X	E	-	1	0	TFDP2	143154113	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	6.280000	0.72626	1.520000	0.48965	0.655000	0.94253	GAG		PASS	0.527	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		6	135	6	135	---	---	---	---
PLSCR2	57047	broad.mit.edu	37	3	146167049	146167049	+	Missense_Mutation	SNP	G	G	T	rs566667604		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:146167049G>T	ENST00000497985.1	-	8	1247	c.808C>A	c.(808-810)Cct>Act	p.P270T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.P197T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	270					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.P270T(1)|p.P197T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AGGTCTCTAGGGAATTGGATT	0.413																																						uc003evv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(589-591)CCT>ACT		phospholipid scramblase 2							176.0	173.0	174.0					3																	146167049		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146167049G>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.808C>A	3.37:g.146167049G>T	ENSP00000420132:p.Pro270Thr					PLSCR2_uc003evw.1_Missense_Mutation_p.P266T	p.P197T	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			7	922	-			197			Cytoplasmic (By similarity).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.589C>A	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	16.10	3.028564	0.54790	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985	T;T	0.24908	1.83;1.83	3.44	2.54	0.30619	.	0.000000	0.37053	U	0.002267	T	0.63367	0.2505	H	0.97516	4.02	0.48185	D	0.999609	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.75059	-0.3451	10	0.87932	D	0	.	12.2156	0.54404	0.0:0.0:0.8283:0.1717	.	290;197	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	197;289;270	ENSP00000338707:P197T;ENSP00000420132:P270T	ENSP00000338707:P197T	P	-	1	0	PLSCR2	147649739	1.000000	0.71417	0.201000	0.23476	0.034000	0.12701	6.030000	0.70903	0.743000	0.32719	0.563000	0.77884	CCT		PASS	0.413	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		12	214	12	214	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147113643	147113643	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:147113643G>A	ENST00000383075.3	-	3	1196	c.684C>T	c.(682-684)caC>caT	p.H228H	ZIC4_ENST00000425731.3_Silent_p.H266H|ZIC4_ENST00000484399.1_Silent_p.H228H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Silent_p.H228H|ZIC4_ENST00000525172.2_Silent_p.H278H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	228				H -> Q (in Ref. 3; AAH29507). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H228H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACTGACCTGTGTGAGTTCGTT	0.572																																						uc003ewd.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(682-684)CAC>CAT		zinc finger protein of the cerebellum 4							72.0	83.0	80.0					3																	147113643		2143	4281	6424	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113643G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.684C>T	3.37:g.147113643G>A						ZIC4_uc003ewc.1_Silent_p.H158H|ZIC4_uc011bno.1_Silent_p.H278H	p.H228H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	957	-			228	H -> Q (in Ref. 2; AAH29507).		C2H2-type 3.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.684C>T	CCDS43160.1																																																																																				PASS	0.572	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			10	76	10	76	---	---	---	---
GYG1	2992	broad.mit.edu	37	3	148714590	148714590	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:148714590G>C	ENST00000345003.4	+	4	680	c.380G>C	c.(379-381)gGg>gCg	p.G127A	GYG1_ENST00000483267.1_Missense_Mutation_p.G127A|GYG1_ENST00000484197.1_Missense_Mutation_p.G127A|GYG1_ENST00000296048.6_Missense_Mutation_p.G127A	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	127					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)	p.G127A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCAGACCCAGGGTGGCCTGAC	0.423																																						uc003ewn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)GGG>GCG		glycogenin 1							83.0	80.0	81.0					3																	148714590		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148714590G>C	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.380G>C	3.37:g.148714590G>C	ENSP00000340736:p.Gly127Ala					GYG1_uc011bnp.1_Missense_Mutation_p.G127A|GYG1_uc003ewo.2_Missense_Mutation_p.G127A|GYG1_uc003ewp.2_Missense_Mutation_p.G127A	p.G127A	NM_004130	NP_004121	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		4	433	+			127					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.380G>C	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254508	0.95336	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000483267;ENST00000484197;ENST00000492285;ENST00000461191	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.81983	0.4938	M	0.80422	2.495	0.80722	D	1	B;D;D;D	0.89917	0.054;1.0;1.0;1.0	B;D;D;D	0.91635	0.2;0.998;0.996;0.999	T	0.82204	-0.0573	10	0.72032	D	0.01	-37.5544	20.7342	0.99715	0.0:0.0:1.0:0.0	.	127;127;127;127	G5E9W8;D3DNH0;P46976-2;P46976	.;.;.;GLYG_HUMAN	A	127;127;127;127;81;127	ENSP00000340736:G127A;ENSP00000296048:G127A;ENSP00000419499:G127A;ENSP00000420683:G127A;ENSP00000418297:G81A;ENSP00000420247:G127A	ENSP00000296048:G127A	G	+	2	0	GYG1	150197280	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.438000	0.97539	2.906000	0.99361	0.655000	0.94253	GGG		PASS	0.423	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		10	66	10	66	---	---	---	---
CP	1356	broad.mit.edu	37	3	148901366	148901366	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:148901366C>T	ENST00000264613.6	-	13	2574	c.2312G>A	c.(2311-2313)gGa>gAa	p.G771E	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	771	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.G771E(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAAAACTCTCCCTTATCTAA	0.303																																						uc003ewy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2311-2313)GGA>GAA		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						80.0	73.0	75.0					3																	148901366		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148901366C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2312G>A	3.37:g.148901366C>T	ENSP00000264613:p.Gly771Glu					CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G552E|CP_uc003ewz.2_Missense_Mutation_p.G771E	p.G771E	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2565	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	771			Plastocyanin-like 5.|F5/8 type A 3.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2312G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	1.708	-0.499901	0.04291	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98987	-5.3;-5.3	5.39	-8.1	0.01086	Cupredoxin (2);	1.027410	0.07655	N	0.932596	D	0.96185	0.8756	L	0.46670	1.46	0.19300	N	0.99998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	D	0.86715	0.1938	10	0.02654	T	1	-0.3012	15.6657	0.77227	0.0:0.595:0.0:0.405	.	771;771;771	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	E	771;554	ENSP00000264613:G771E;ENSP00000420545:G554E	ENSP00000264613:G771E	G	-	2	0	CP	150384056	0.000000	0.05858	0.761000	0.31378	0.835000	0.47333	-0.841000	0.04359	-0.942000	0.03695	-1.737000	0.00689	GGA		PASS	0.303	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		8	43	8	43	---	---	---	---
COMMD2	51122	broad.mit.edu	37	3	149469237	149469237	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:149469237C>A	ENST00000473414.1	-	3	235	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	61								p.G61C(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCTTCCACACCATGCTGGACA	0.388																																						uc003exk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GGT>TGT		COMM domain containing 2							137.0	122.0	127.0					3																	149469237		2203	4300	6503	SO:0001583	missense	51122						protein binding	g.chr3:149469237C>A	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.181G>T	3.37:g.149469237C>A	ENSP00000419475:p.Gly61Cys						p.G61C	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	228	-			61					Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	c.181G>T	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322048	0.81580	.	.	ENSG00000114744	ENST00000473414	T	0.08896	3.04	5.21	5.21	0.72293	.	0.047897	0.85682	D	0.000000	T	0.25195	0.0612	L	0.53729	1.69	0.58432	D	0.999999	D	0.76494	0.999	D	0.68943	0.961	T	0.00175	-1.1954	10	0.41790	T	0.15	-1.9848	19.1396	0.93443	0.0:1.0:0.0:0.0	.	61	Q86X83	COMD2_HUMAN	C	61	ENSP00000419475:G61C	ENSP00000419475:G61C	G	-	1	0	COMMD2	150951927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.768000	0.55295	2.606000	0.88127	0.650000	0.86243	GGT		PASS	0.388	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		7	119	7	119	---	---	---	---
MME	4311	broad.mit.edu	37	3	154878217	154878217	+	Missense_Mutation	SNP	C	C	A	rs200973878		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:154878217C>A	ENST00000460393.1	+	17	1760	c.1640C>A	c.(1639-1641)tCt>tAt	p.S547Y	MME_ENST00000493237.1_Missense_Mutation_p.S547Y|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.S547Y|MME_ENST00000360490.2_Missense_Mutation_p.S547Y|MME_ENST00000462745.1_Missense_Mutation_p.S547Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	547					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.S547Y(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)	GCATTTTACTCTTCAGGAAGA	0.338																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1639-1641)TCT>TAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						190.0	203.0	198.0					3																	154878217		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154878217C>A		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.1640C>A	3.37:g.154878217C>A	ENSP00000418525:p.Ser547Tyr					MME_uc003fab.1_Missense_Mutation_p.S547Y|MME_uc003fac.1_Missense_Mutation_p.S547Y|MME_uc003fad.1_Missense_Mutation_p.S547Y|MME_uc003fae.1_Missense_Mutation_p.S547Y	p.S547Y	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		17	1851	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	547			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1640C>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244401	0.79912	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.5	5.5	0.81552	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.129309	0.53938	D	0.000044	D	0.95159	0.8431	M	0.70903	2.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95239	0.8349	10	0.72032	D	0.01	-20.7347	19.3983	0.94617	0.0:1.0:0.0:0.0	.	547	P08473	NEP_HUMAN	Y	547	ENSP00000420389:S547Y;ENSP00000418525:S547Y;ENSP00000419653:S547Y;ENSP00000417079:S547Y;ENSP00000353679:S547Y	ENSP00000353679:S547Y	S	+	2	0	MME	156360911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.701000	0.61810	2.596000	0.87737	0.650000	0.86243	TCT		PASS	0.338	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		13	357	13	357	---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156254473	156254473	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:156254473G>T	ENST00000490337.1	+	14	1261	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	KCNAB1_ENST00000471742.1_Silent_p.V388V|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Silent_p.V352V|KCNAB1_ENST00000389636.5_Silent_p.V370V|KCNAB1_ENST00000302490.8_Silent_p.V381V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	399					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.V381V(1)|p.V388V(1)|p.V399V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCACATGTGGTAAATGAGA	0.398																																						uc003far.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|skin(1)	4						c.(1195-1197)GTG>GTT		potassium voltage-gated channel, shaker-related							175.0	154.0	161.0					3																	156254473		2203	4300	6503	SO:0001819	synonymous_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156254473G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1197G>T	3.37:g.156254473G>T						KCNAB1_uc011bon.1_Silent_p.V370V|KCNAB1_uc003fas.2_Silent_p.V388V|KCNAB1_uc003fat.2_Silent_p.V381V|KCNAB1_uc010hvt.1_Silent_p.V352V|KCNAB1_uc011boo.1_Silent_p.V275V	p.V399V	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		14	1261	+			399					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.1197G>T	CCDS3174.1																																																																																				PASS	0.398	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		8	151	8	151	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157146189	157146189	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:157146189C>A	ENST00000362010.2	-	5	925	c.618G>T	c.(616-618)ttG>ttT	p.L206F	VEPH1_ENST00000392832.2_Missense_Mutation_p.L206F|VEPH1_ENST00000543418.1_Missense_Mutation_p.L206F|VEPH1_ENST00000392833.2_Missense_Mutation_p.L206F|VEPH1_ENST00000469007.1_5'UTR	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	206						plasma membrane (GO:0005886)		p.L206F(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCTGAGACATCAAGGCCAGGA	0.433																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(616-618)TTG>TTT		ventricular zone expressed PH domain homolog 1							194.0	176.0	182.0					3																	157146189		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157146189C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.618G>T	3.37:g.157146189C>A	ENSP00000354919:p.Leu206Phe					VEPH1_uc003fbk.1_Missense_Mutation_p.L206F|VEPH1_uc010hvu.1_Missense_Mutation_p.L206F	p.L206F	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	935	-			206					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.618G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782055	0.70222	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987	T;T;T;T;T	0.50548	1.09;1.09;1.09;1.09;0.74	5.44	3.65	0.41850	.	0.246713	0.39759	N	0.001266	T	0.59169	0.2174	M	0.67397	2.05	0.80722	D	1	D;D	0.63880	0.993;0.988	P;P	0.60682	0.878;0.758	T	0.61451	-0.7060	10	0.66056	D	0.02	-5.9228	8.6205	0.33857	0.0:0.7333:0.1263:0.1404	.	206;206	Q14D04-2;Q14D04	.;MELT_HUMAN	F	206;206;206;206;94	ENSP00000376578:L206F;ENSP00000354919:L206F;ENSP00000446258:L206F;ENSP00000376577:L206F;ENSP00000418963:L94F	ENSP00000354919:L206F	L	-	3	2	VEPH1	158628883	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.851000	0.48302	1.283000	0.44513	-0.252000	0.11476	TTG		PASS	0.433	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		13	77	13	77	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	158261981	158261981	+	Nonsense_Mutation	SNP	G	G	T	rs140479858	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:158261981G>T	ENST00000295930.3	+	10	1084	c.922G>T	c.(922-924)Gag>Tag	p.E308*	RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E308*|RP11-538P18.2_ENST00000475981.1_RNA|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.E257*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E250*|RSRC1_ENST00000464171.1_Nonsense_Mutation_p.E250*	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	308					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.E308*(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GTTATTTATCGAGAAAGCTGA	0.333																																						uc003fbt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(922-924)GAG>TAG		arginine/serine-rich coiled-coil 1							88.0	95.0	92.0					3																	158261981		2203	4300	6503	SO:0001587	stop_gained	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158261981G>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.922G>T	3.37:g.158261981G>T	ENSP00000295930:p.Glu308*					RSRC1_uc003fbv.2_Nonsense_Mutation_p.E250*	p.E308*	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		10	1033	+			308					A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	ENST00000295930.3	37	c.922G>T	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186726	0.94885	.	.	ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179;ENST00000475278	.	.	.	5.81	4.93	0.64822	.	0.285455	0.38111	N	0.001820	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.7886	0.78332	0.0:0.0:0.8624:0.1376	.	.	.	.	X	308;308;250;250;257	.	ENSP00000295930:E308X	E	+	1	0	RSRC1	159744675	1.000000	0.71417	0.711000	0.30485	0.935000	0.57460	7.735000	0.84939	1.422000	0.47177	0.655000	0.94253	GAG		PASS	0.333	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		8	216	8	216	---	---	---	---
MFSD1	64747	broad.mit.edu	37	3	158541980	158541980	+	Silent	SNP	C	C	A	rs376941891		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:158541980C>A	ENST00000264266.8	+	13	1305	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	MFSD1_ENST00000392813.4_Silent_p.R425R|MFSD1_ENST00000415822.2_Silent_p.R464R			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	415					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R464R(1)|p.R415R(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)			ACTGGATTCTCGGGGGTATTT	0.368																																					Pancreas(62;1186 1654 36636 37908)	uc003fcl.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1243-1245)CGG>AGG		major facilitator superfamily domain containing							422.0	411.0	415.0					3																	158541980		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158541980C>A	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.1243C>A	3.37:g.158541980C>A						MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Silent_p.R318R|MFSD1_uc011bow.1_Silent_p.R376R|MFSD1_uc011box.1_Silent_p.R342R	p.R415R	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		13	1273	+			415					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.1243C>A																																																																																					PASS	0.368	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		11	386	11	386	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160141331	160141331	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:160141331G>T	ENST00000357388.3	+	14	2589	c.2138G>T	c.(2137-2139)cGa>cTa	p.R713L	SMC4_ENST00000360111.2_Missense_Mutation_p.R713L|SMC4_ENST00000462787.1_Missense_Mutation_p.R713L|SMC4_ENST00000469762.1_Missense_Mutation_p.R688L|SMC4_ENST00000344722.5_Missense_Mutation_p.R713L|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	713	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.R713L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGCTTTACGAGATACCTTA	0.343																																						uc003fdh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2137-2139)CGA>CTA		SMC4 structural maintenance of chromosomes							138.0	149.0	145.0					3																	160141331		2202	4300	6502	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160141331G>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2138G>T	3.37:g.160141331G>T	ENSP00000349961:p.Arg713Leu					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.R477L|SMC4_uc003fdi.2_Missense_Mutation_p.R688L|SMC4_uc003fdj.2_Missense_Mutation_p.R713L|SMC4_uc010hwd.2_Missense_Mutation_p.R713L|SMC4_uc003fdl.2_Missense_Mutation_p.R416L	p.R713L	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	2251	+			713			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2138G>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569247	0.86439	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	5.96	1.61	0.23674	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.232564	0.43260	D	0.000598	D	0.91908	0.7438	H	0.94345	3.525	0.80722	D	1	P;D;P;D	0.54207	0.733;0.964;0.923;0.965	B;P;B;P	0.52646	0.278;0.705;0.413;0.608	D	0.90226	0.4275	10	0.33141	T	0.24	-2.5136	10.5783	0.45240	0.3431:0.0:0.6569:0.0	.	713;688;688;713	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	L	713;713;688;713;713;307	ENSP00000349961:R713L;ENSP00000353225:R713L;ENSP00000417964:R688L;ENSP00000420734:R713L;ENSP00000341382:R713L	ENSP00000341382:R713L	R	+	2	0	SMC4	161624025	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	4.718000	0.61930	0.395000	0.25257	0.650000	0.86243	CGA		PASS	0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			8	276	8	276	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907978	164907978	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:164907978C>A	ENST00000475390.1	-	2	1084	c.641G>T	c.(640-642)cGa>cTa	p.R214L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R214L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	214					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R214L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGCATTCCTCGGTAAAAAAG	0.418										HNSCC(40;0.11)																												uc003fej.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|pancreas(1)	10						c.(640-642)CGA>CTA		slit and trk like 3 protein precursor							66.0	69.0	68.0					3																	164907978		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907978C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.641G>T	3.37:g.164907978C>A	ENSP00000420091:p.Arg214Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R214L	p.R214L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1085	-			214			Extracellular (Potential).|LRR 6.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.641G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703535	0.30232	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51325	0.71;0.71	5.86	5.86	0.93980	.	0.000000	0.32081	N	0.006609	T	0.37293	0.0998	N	0.14661	0.345	0.40322	D	0.978838	B	0.33748	0.423	B	0.41764	0.366	T	0.25882	-1.0119	10	0.25106	T	0.35	-9.3545	13.3861	0.60797	0.0:0.9283:0.0:0.0717	.	214	O94933	SLIK3_HUMAN	L	214	ENSP00000420091:R214L;ENSP00000241274:R214L	ENSP00000241274:R214L	R	-	2	0	SLITRK3	166390672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.007000	0.57093	2.779000	0.95612	0.561000	0.74099	CGA		PASS	0.418	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		8	95	8	95	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167272570	167272570	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:167272570C>A	ENST00000308378.3	-	6	973	c.668G>T	c.(667-669)gGa>gTa	p.G223V	WDR49_ENST00000476376.1_Missense_Mutation_p.G48V|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G276V	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	223								p.G223V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTGACAATATCCATTGAAGTC	0.353																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(667-669)GGA>GTA		WD repeat domain 49							122.0	116.0	118.0					3																	167272570		2203	4299	6502	SO:0001583	missense	151790							g.chr3:167272570C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.668G>T	3.37:g.167272570C>A	ENSP00000311343:p.Gly223Val					WDR49_uc003feu.1_Missense_Mutation_p.G48V|WDR49_uc011bpd.1_Missense_Mutation_p.G276V|WDR49_uc003few.1_Intron	p.G223V	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			6	974	-			223			WD 4.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.668G>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.14|17.14	3.314684|3.314684	0.60524|0.60524	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	.|T;T;T;T	.|0.79554	.|1.58;0.92;1.84;-1.28	5.36|5.36	5.36|5.36	0.76844|0.76844	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.363487	.|0.30704	.|N	.|0.009053	D|D	0.89497|0.89497	0.6732|0.6732	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.77557	.|0.99;0.817	D|D	0.90160|0.90160	0.4227|0.4227	5|10	.|0.62326	.|D	.|0.03	.|.	17.9261|17.9261	0.88983|0.88983	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|276;223	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	Y|V	288|223;48;276;116	.|ENSP00000311343:G223V;ENSP00000420508:G48V;ENSP00000410863:G276V;ENSP00000418718:G116V	.|ENSP00000311343:G223V	D|G	-|-	1|2	0|0	WDR49|WDR49	168755264|168755264	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.534000|0.534000	0.34807|0.34807	5.453000|5.453000	0.66645|0.66645	2.525000|2.525000	0.85131|0.85131	0.585000|0.585000	0.79938|0.79938	GAT|GGA		PASS	0.353	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		23	118	23	118	---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167413456	167413456	+	Missense_Mutation	SNP	C	C	A	rs536633813	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:167413456C>A	ENST00000392750.2	-	6	740	c.323G>T	c.(322-324)cGa>cTa	p.R108L	PDCD10_ENST00000473645.2_Missense_Mutation_p.R108L|PDCD10_ENST00000461494.1_Missense_Mutation_p.R108L|PDCD10_ENST00000470131.1_Missense_Mutation_p.R108L|PDCD10_ENST00000497056.2_Missense_Mutation_p.R108L|PDCD10_ENST00000471885.1_Missense_Mutation_p.R108L|PDCD10_ENST00000487947.2_Missense_Mutation_p.R108L|PDCD10_ENST00000492396.1_Missense_Mutation_p.R45L	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	108					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R108L(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTTAAGTGCTCGTGCCTTTTC	0.368																																						uc003fex.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(322-324)CGA>CTA		programmed cell death 10							254.0	248.0	250.0					3																	167413456		2202	4300	6502	SO:0001583	missense	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167413456C>A	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.323G>T	3.37:g.167413456C>A	ENSP00000376506:p.Arg108Leu					PDCD10_uc003fez.2_Missense_Mutation_p.R108L|PDCD10_uc003fey.2_Missense_Mutation_p.R108L	p.R108L	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			6	721	-			108					A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	c.323G>T	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940708	0.52972	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139	T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;1.96;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	L	0.44542	1.39	0.80722	D	1	P	0.42556	0.783	B	0.43575	0.424	T	0.09997	-1.0649	10	0.18276	T	0.48	-23.1016	19.6346	0.95724	0.0:1.0:0.0:0.0	.	108	Q9BUL8	PDC10_HUMAN	L	108;108;108;45;108;108;108;108;108;108;108	ENSP00000376506:R108L;ENSP00000418317:R108L;ENSP00000420553:R108L;ENSP00000417309:R45L;ENSP00000420021:R108L;ENSP00000417202:R108L;ENSP00000417118:R108L;ENSP00000420266:R108L;ENSP00000417876:R108L;ENSP00000420424:R108L;ENSP00000420014:R108L	ENSP00000376506:R108L	R	-	2	0	PDCD10	168896150	1.000000	0.71417	0.999000	0.59377	0.092000	0.18411	7.711000	0.84669	2.641000	0.89580	0.655000	0.94253	CGA		PASS	0.368	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		8	201	8	201	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747050	167747050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:167747050G>A	ENST00000470487.1	-	11	2163	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.Q464*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	492	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q492*(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTGCTCCCTGAACGATATCA	0.393																																						uc003ffe.2																			1	Substitution - Nonsense(1)		lung(1)	breast(4)|skin(1)	5						c.(1474-1476)CAG>TAG		golgi integral membrane protein 4							125.0	110.0	115.0					3																	167747050		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747050G>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1474C>T	3.37:g.167747050G>A	ENSP00000417354:p.Gln492*					GOLIM4_uc011bpe.1_Nonsense_Mutation_p.Q492*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.Q464*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.Q464*	p.Q492*	NM_014498	NP_055313	O00461	GOLI4_HUMAN			11	1818	-			492			Glu-rich.|Gln-rich.|Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.1474C>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	45	11.455915	0.99563	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.263518	0.39475	N	0.001350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-18.7769	18.2927	0.90136	0.0:0.0:1.0:0.0	.	.	.	.	X	492;464	.	ENSP00000309893:Q464X	Q	-	1	0	GOLIM4	169229744	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.177000	0.58276	2.325000	0.78763	0.549000	0.68633	CAG		PASS	0.393	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			21	114	21	114	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169485571	169485571	+	Missense_Mutation	SNP	C	C	A	rs560597911		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:169485571C>A	ENST00000330368.2	-	2	1142	c.768G>T	c.(766-768)gaG>gaT	p.E256D	RP11-816J6.3_ENST00000602879.1_RNA|TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	256						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.E256D(1)									AGAAGAGGGCCTCTGGACAAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		21567	0.001		0.0	False		,,,				2504	0.0					uc003ffs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GAG>GAT		actin related protein M1							106.0	117.0	114.0					3																	169485571		2203	4300	6503	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169485571C>A	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.768G>T	3.37:g.169485571C>A	ENSP00000333037:p.Glu256Asp					TERC_uc003ffr.1_5'Flank	p.E256D	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	1143	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		256					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.768G>T	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725064	0.48833	.	.	ENSG00000184378	ENST00000330368	D	0.97888	-4.59	5.53	3.76	0.43208	.	0.000000	0.56097	D	0.000033	D	0.98466	0.9489	M	0.89214	3.015	0.35855	D	0.827064	D	0.53151	0.958	P	0.61275	0.886	D	0.99957	1.1649	10	0.87932	D	0	.	10.8626	0.46835	0.0:0.8471:0.0:0.1529	.	256	Q9BYD9	ARPM1_HUMAN	D	256	ENSP00000333037:E256D	ENSP00000333037:E256D	E	-	3	2	AC078802.1	170968265	0.998000	0.40836	0.993000	0.49108	0.021000	0.10359	1.792000	0.38754	0.904000	0.36572	0.655000	0.94253	GAG		PASS	0.468	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		7	107	7	107	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170198327	170198327	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:170198327A>T	ENST00000231706.5	-	7	2059	c.1744T>A	c.(1744-1746)Ttc>Atc	p.F582I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	582					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.F582I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AAGATGATGAAGGAGCAGAAG	0.552																																						uc003fgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1744-1746)TTC>ATC		solute carrier family 7 (cationic amino acid							83.0	76.0	78.0					3																	170198327		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198327A>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1744T>A	3.37:g.170198327A>T	ENSP00000231706:p.Phe582Ile					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.F582I	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2060	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		582			Helical; (Potential).		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1744T>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257661	0.39896	.	.	ENSG00000013293	ENST00000231706	D	0.87256	-2.23	5.6	5.6	0.85130	.	0.150539	0.64402	D	0.000005	T	0.79695	0.4490	N	0.24115	0.695	0.58432	D	0.999993	B	0.22003	0.063	B	0.22386	0.039	T	0.74481	-0.3651	10	0.20519	T	0.43	.	15.7748	0.78204	1.0:0.0:0.0:0.0	.	582	Q8TBB6	S7A14_HUMAN	I	582	ENSP00000231706:F582I	ENSP00000231706:F582I	F	-	1	0	SLC7A14	171681021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.958000	0.56737	2.121000	0.65114	0.533000	0.62120	TTC		PASS	0.552	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		7	31	7	31	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170819284	170819284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:170819284C>A	ENST00000436636.2	-	22	2889	c.2545G>T	c.(2545-2547)Gag>Tag	p.E849*	TNIK_ENST00000460047.1_Nonsense_Mutation_p.E786*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.E794*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.E827*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.E757*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.E812*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.E841*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.E820*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.E801*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.E765*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	849	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E849*(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCATGGGTCTCGCTCTCTCCA	0.483																																						uc003fhh.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(2545-2547)GAG>TAG		TRAF2 and NCK interacting kinase isoform 1							321.0	320.0	320.0					3																	170819284		2103	4242	6345	SO:0001587	stop_gained	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819284C>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2545G>T	3.37:g.170819284C>A	ENSP00000399511:p.Glu849*					TNIK_uc003fhi.2_Nonsense_Mutation_p.E794*|TNIK_uc003fhj.2_Nonsense_Mutation_p.E820*|TNIK_uc003fhk.2_Nonsense_Mutation_p.E841*|TNIK_uc003fhl.2_Nonsense_Mutation_p.E765*|TNIK_uc003fhm.2_Nonsense_Mutation_p.E786*|TNIK_uc003fhn.2_Nonsense_Mutation_p.E812*|TNIK_uc003fho.2_Nonsense_Mutation_p.E757*|TNIK_uc003fhg.2_Nonsense_Mutation_p.E27*	p.E849*	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2890	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		849			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	c.2545G>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	41	8.941267	0.99010	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	6.02	6.02	0.97574	.	0.099282	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	849;827;801;765;841;757;820;786;794;812	.	ENSP00000284483:E841X	E	-	1	0	TNIK	172301978	1.000000	0.71417	0.977000	0.42913	0.906000	0.53458	7.231000	0.78106	2.857000	0.98124	0.650000	0.86243	GAG		PASS	0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		7	268	7	268	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	171851309	171851309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:171851309G>T	ENST00000336824.4	+	3	259	c.160G>T	c.(160-162)Gag>Tag	p.E54*	FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.E54*|FNDC3B_ENST00000423424.1_Nonsense_Mutation_p.E54*|FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.E54*|FNDC3B_ENST00000421757.1_Nonsense_Mutation_p.E54*|FNDC3B_ENST00000392699.1_Nonsense_Mutation_p.E54*	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	54					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.E54*(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATAAGAGCAGAGGATGGAAC	0.338																																						uc003fhy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(160-162)GAG>TAG		fibronectin type III domain containing 3B							148.0	143.0	144.0					3																	171851309		2203	4300	6503	SO:0001587	stop_gained	64778					endoplasmic reticulum|integral to membrane		g.chr3:171851309G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.160G>T	3.37:g.171851309G>T	ENSP00000338523:p.Glu54*					FNDC3B_uc003fhz.3_Nonsense_Mutation_p.E54*|FNDC3B_uc003fia.2_5'UTR|FNDC3B_uc003fhx.2_RNA	p.E54*	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	3	332	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		54					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonsense_Mutation	SNP	ENST00000336824.4	37	c.160G>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	37	6.261036	0.97421	.	.	ENSG00000075420	ENST00000421757;ENST00000415807;ENST00000392699;ENST00000336824;ENST00000423424;ENST00000416957;ENST00000443501	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.9147	19.3087	0.94175	0.0:0.0:1.0:0.0	.	.	.	.	X	54;54;54;54;54;54;27	.	ENSP00000338523:E54X	E	+	1	0	FNDC3B	173334003	1.000000	0.71417	0.974000	0.42286	0.971000	0.66376	7.160000	0.77495	2.857000	0.98124	0.650000	0.86243	GAG		PASS	0.338	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	101	7	101	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172835271	172835271	+	Missense_Mutation	SNP	C	C	G	rs143065627		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:172835271C>G	ENST00000351008.3	-	2	434	c.251G>C	c.(250-252)cGg>cCg	p.R84P		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	84					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.R84P(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCTGCCTTCCGTTTAAAGGC	0.393																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(250-252)CGG>CCG		spermatogenesis associated 16							393.0	365.0	374.0					3																	172835271		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835271C>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.251G>C	3.37:g.172835271C>G	ENSP00000341765:p.Arg84Pro						p.R84P	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	409	-	Ovarian(172;0.00319)|Breast(254;0.197)		84					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.251G>C	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254882	0.59321	.	.	ENSG00000144962	ENST00000351008	T	0.18657	2.2	5.27	4.38	0.52667	.	0.274679	0.25698	N	0.028883	T	0.17238	0.0414	L	0.27053	0.805	0.33891	D	0.637308	B	0.21147	0.052	B	0.22386	0.039	T	0.12372	-1.0550	10	0.62326	D	0.03	-12.531	13.7996	0.63192	0.0:0.8466:0.1534:0.0	.	84	Q9BXB7	SPT16_HUMAN	P	84	ENSP00000341765:R84P	ENSP00000341765:R84P	R	-	2	0	SPATA16	174317965	0.890000	0.30428	0.999000	0.59377	0.996000	0.88848	2.653000	0.46691	1.170000	0.42753	0.650000	0.86243	CGG		PASS	0.393	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		35	248	35	248	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179051459	179051459	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:179051459G>T	ENST00000326361.3	+	7	1152	c.707G>T	c.(706-708)cGa>cTa	p.R236L	ZNF639_ENST00000496856.1_Missense_Mutation_p.R236L|ZNF639_ENST00000484866.1_Missense_Mutation_p.R236L|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	236					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R236L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AATGTGTGTCGAGTATGCAAG	0.348																																						uc003fjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)CGA>CTA		zinc finger protein 639							78.0	71.0	74.0					3																	179051459		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051459G>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.707G>T	3.37:g.179051459G>T	ENSP00000325634:p.Arg236Leu					ZNF639_uc003fjr.1_Missense_Mutation_p.R236L	p.R236L	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1050	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		236			C2H2-type 2.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.707G>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627544	0.46944	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.129373	0.35970	N	0.002861	T	0.49133	0.1539	N	0.20328	0.56	0.29164	N	0.877586	D	0.69078	0.997	D	0.79784	0.993	T	0.48043	-0.9069	10	0.41790	T	0.15	.	7.9084	0.29776	0.1889:0.0:0.8111:0.0	.	236	Q9UID6	ZN639_HUMAN	L	236	ENSP00000417740:R236L;ENSP00000325634:R236L;ENSP00000419650:R236L;ENSP00000418766:R236L	ENSP00000325634:R236L	R	+	2	0	ZNF639	180534153	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.334000	0.43920	2.890000	0.99128	0.655000	0.94253	CGA		PASS	0.348	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		6	78	6	78	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179426590	179426590	+	Missense_Mutation	SNP	G	G	T	rs61760204		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:179426590G>T	ENST00000263966.3	+	6	1121	c.650G>T	c.(649-651)cGa>cTa	p.R217L	USP13_ENST00000496897.1_Missense_Mutation_p.R152L|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	217					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.R217Q(1)|p.R217L(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)			TGCGACCTGCGAGAAAACCTC	0.493																																						uc003fkh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(649-651)CGA>CTA		ubiquitin thiolesterase 13							172.0	159.0	164.0					3																	179426590		2203	4300	6503	SO:0001583	missense	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.chr3:179426590G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.650G>T	3.37:g.179426590G>T	ENSP00000263966:p.Arg217Leu					USP13_uc003fkf.2_Missense_Mutation_p.R217L	p.R217L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		6	731	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		217			UBP-type.		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.650G>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478639	0.63849	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.42513	0.97;0.97	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.53561	1.675	0.58432	D	0.999994	P;B	0.45212	0.853;0.027	P;B	0.48704	0.587;0.037	T	0.35525	-0.9785	10	0.39692	T	0.17	-16.7211	13.128	0.59366	0.0729:0.0:0.9271:0.0	.	217;217	Q92995;A8K2S3	UBP13_HUMAN;.	L	217;152	ENSP00000263966:R217L;ENSP00000417146:R152L	ENSP00000263966:R217L	R	+	2	0	USP13	180909284	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.446000	0.73460	2.684000	0.91462	0.650000	0.86243	CGA		PASS	0.493	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			7	159	7	159	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180359867	180359867	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:180359867C>A	ENST00000442201.2	-	13	1907	c.1788G>T	c.(1786-1788)atG>atT	p.M596I	CCDC39_ENST00000273654.4_Missense_Mutation_p.M680I	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	596					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.M596I(1)|p.M680I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCGCTCTTCCATTGCTGTGT	0.343																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1786-1788)ATG>ATT		coiled-coil domain containing 39							165.0	152.0	156.0					3																	180359867		1836	4085	5921	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359867C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1788G>T	3.37:g.180359867C>A	ENSP00000405708:p.Met596Ile					CCDC39_uc003fkn.2_RNA	p.M596I	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1903	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		596			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1788G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844691	0.16963	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	4.9	4.9	0.64082	.	0.079544	0.85682	D	0.000000	T	0.56499	0.1989	M	0.63428	1.95	0.40486	D	0.980498	B	0.28880	0.226	B	0.30495	0.116	T	0.52749	-0.8534	9	0.10636	T	0.68	-22.1961	12.9239	0.58247	0.0:0.9184:0.0:0.0816	.	596	Q9UFE4	CCD39_HUMAN	I	680;596	.	ENSP00000273654:M680I	M	-	3	0	CCDC39	181842561	1.000000	0.71417	0.999000	0.59377	0.267000	0.26476	3.235000	0.51328	2.422000	0.82143	0.579000	0.79373	ATG		PASS	0.343	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		8	176	8	176	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180671624	180671624	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:180671624C>A	ENST00000357559.4	+	9	1260	c.876C>A	c.(874-876)ctC>ctA	p.L292L	FXR1_ENST00000480918.1_Silent_p.L279L|FXR1_ENST00000468861.1_Silent_p.L207L|FXR1_ENST00000305586.7_Silent_p.L207L|FXR1_ENST00000445140.2_Silent_p.L292L|FXR1_ENST00000491062.1_Silent_p.L243L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	292	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L292L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGGAATCTCGTTGGTAGGT	0.323																																						uc003fkq.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(874-876)CTC>CTA		fragile X mental retardation-related protein 1							135.0	135.0	135.0					3																	180671624		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180671624C>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.876C>A	3.37:g.180671624C>A						FXR1_uc003fkp.2_Silent_p.L207L|FXR1_uc003fkr.2_Silent_p.L292L|FXR1_uc011bqj.1_Silent_p.L206L|FXR1_uc003fks.2_Silent_p.L206L|FXR1_uc011bqk.1_Silent_p.L243L|FXR1_uc011bql.1_Silent_p.L279L	p.L292L	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		9	898	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		292			KH 2.		A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.876C>A	CCDS3238.1																																																																																				PASS	0.323	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			7	155	7	155	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182553854	182553854	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:182553854A>G	ENST00000323116.5	+	5	607	c.347A>G	c.(346-348)gAt>gGt	p.D116G	ATP11B_ENST00000493826.1_Missense_Mutation_p.D116G|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	116					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D116G(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATAACTCAGATAATGAAGTA	0.313																																						uc003flb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(346-348)GAT>GGT		ATPase, class VI, type 11B							122.0	120.0	121.0					3																	182553854		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182553854A>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.347A>G	3.37:g.182553854A>G	ENSP00000321195:p.Asp116Gly					ATP11B_uc003fla.2_Missense_Mutation_p.D116G	p.D116G	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		5	604	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		116			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.347A>G	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455875	0.84209	.	.	ENSG00000058063	ENST00000323116;ENST00000493826	D;D	0.86030	-2.06;-2.06	5.13	5.13	0.70059	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97878	1.0290	10	0.87932	D	0	.	14.9364	0.70960	1.0:0.0:0.0:0.0	.	116;116	Q9Y2G3;B4DKX1	AT11B_HUMAN;.	G	116	ENSP00000321195:D116G;ENSP00000419032:D116G	ENSP00000321195:D116G	D	+	2	0	ATP11B	184036548	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	1.916000	0.55485	0.260000	0.18958	GAT		PASS	0.313	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		14	88	14	88	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182679086	182679086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:182679086C>A	ENST00000292782.4	-	4	601	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.E135*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	150	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.E150*(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CGTCCTGGTTCTTTCAATTCT	0.308																																						uc003fld.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(448-450)GAA>TAA		RP42 homolog							268.0	296.0	287.0					3																	182679086		2203	4299	6502	SO:0001587	stop_gained	54165					ubiquitin ligase complex	protein binding	g.chr3:182679086C>A	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.448G>T	3.37:g.182679086C>A	ENSP00000292782:p.Glu150*					DCUN1D1_uc011bqn.1_Nonsense_Mutation_p.E7*	p.E150*	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		4	497	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		150			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Nonsense_Mutation	SNP	ENST00000292782.4	37	c.448G>T	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100119	0.94197	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954	.	.	.	5.1	5.1	0.69264	.	0.047154	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.5729	18.8666	0.92294	0.0:1.0:0.0:0.0	.	.	.	.	X	150;110;135	.	ENSP00000292782:E150X	E	-	1	0	DCUN1D1	184161780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.536000	0.85505	0.591000	0.81541	GAA		PASS	0.308	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		13	498	13	498	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182679095	182679095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:182679095C>A	ENST00000292782.4	-	4	592	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.E132*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	147	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.E147*(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCTTTCAATTCTTGTTCCATC	0.299																																						uc003fld.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(439-441)GAA>TAA		RP42 homolog							279.0	307.0	297.0					3																	182679095		2203	4299	6502	SO:0001587	stop_gained	54165					ubiquitin ligase complex	protein binding	g.chr3:182679095C>A	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.439G>T	3.37:g.182679095C>A	ENSP00000292782:p.Glu147*					DCUN1D1_uc011bqn.1_Nonsense_Mutation_p.E4*	p.E147*	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		4	488	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		147			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Nonsense_Mutation	SNP	ENST00000292782.4	37	c.439G>T	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950371	0.92660	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-11.2807	18.8666	0.92294	0.0:1.0:0.0:0.0	.	.	.	.	X	147;107;132	.	ENSP00000292782:E147X	E	-	1	0	DCUN1D1	184161789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.536000	0.85505	0.591000	0.81541	GAA		PASS	0.299	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		13	529	13	529	---	---	---	---
MCCC1	56922	broad.mit.edu	37	3	182733349	182733349	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:182733349G>T	ENST00000265594.4	-	19	2201	c.2055C>A	c.(2053-2055)acC>acA	p.T685T	MCCC1_ENST00000492597.1_Silent_p.T576T|MCCC1-AS1_ENST00000471731.2_RNA|MCCC1_ENST00000539926.1_3'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	685	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.T685T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GAGACTTTATGGTATGCTGCA	0.428																																						uc003fle.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2053-2055)ACC>ACA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						240.0	229.0	233.0					3																	182733349		2203	4300	6503	SO:0001819	synonymous_variant	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182733349G>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.2055C>A	3.37:g.182733349G>T						MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.T568T|MCCC1_uc003flg.2_Silent_p.T576T	p.T685T	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		19	2192	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		685			Biotinyl-binding.		Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	c.2055C>A	CCDS3241.1																																																																																				PASS	0.428	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		10	233	10	233	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183041131	183041131	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:183041131C>A	ENST00000328913.3	-	6	792	c.495G>T	c.(493-495)atG>atT	p.M165I	MCF2L2_ENST00000447025.2_Missense_Mutation_p.M165I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.M165I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.M165I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	165	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M165I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGAGTTTACCATGATGATCT	0.358																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(493-495)ATG>ATT		Rho family guanine-nucleotide exchange factor							100.0	103.0	102.0					3																	183041131		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041131C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.495G>T	3.37:g.183041131C>A	ENSP00000328118:p.Met165Ile					MCF2L2_uc003flj.1_Missense_Mutation_p.M165I|MCF2L2_uc003flp.1_Missense_Mutation_p.M200I	p.M165I	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		6	585	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		165			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.495G>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822707	0.50739	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.56	3.77	0.43336	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.139230	0.64402	D	0.000005	T	0.67552	0.2905	M	0.86028	2.79	0.36198	D	0.850507	P;B;B	0.44946	0.846;0.25;0.166	B;B;B	0.43658	0.426;0.382;0.087	T	0.76586	-0.2905	10	0.72032	D	0.01	.	10.9896	0.47541	0.0:0.8459:0.0:0.1541	.	165;165;165	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	I	165	ENSP00000328118:M165I;ENSP00000420070:M165I;ENSP00000388190:M165I;ENSP00000414131:M165I	ENSP00000328118:M165I	M	-	3	0	MCF2L2	184523825	1.000000	0.71417	0.271000	0.24616	0.687000	0.40016	3.684000	0.54671	0.710000	0.31997	0.655000	0.94253	ATG		PASS	0.358	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		8	136	8	136	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075157	184075157	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:184075157C>A	ENST00000265593.4	-	8	1062	c.891G>T	c.(889-891)cgG>cgT	p.R297R	CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.R297R|CLCN2_ENST00000457512.1_Silent_p.R297R|CLCN2_ENST00000434054.2_Silent_p.R253R|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	297					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.R297R(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CACCTTCATCCCGGTTCCAGA	0.627																																						uc003foi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)CGG>CGT		chloride channel 2	Lubiprostone(DB01046)						58.0	67.0	64.0					3																	184075157		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075157C>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.891G>T	3.37:g.184075157C>A						CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Silent_p.R297R|CLCN2_uc011brl.1_Silent_p.R297R|CLCN2_uc011brm.1_Silent_p.R253R|CLCN2_uc011brn.1_Silent_p.R297R	p.R297R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1015	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		297					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.891G>T	CCDS3263.1																																																																																				PASS	0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			6	43	6	43	---	---	---	---
LIPH	200879	broad.mit.edu	37	3	185245287	185245287	+	Missense_Mutation	SNP	G	G	T	rs565980022		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:185245287G>T	ENST00000296252.4	-	4	754	c.613C>A	c.(613-615)Cat>Aat	p.H205N	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	205			Missing (in HYPT7). {ECO:0000269|PubMed:17095700}.		lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.H205N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTGTCGGAATGGATGACATCA	0.517																																						uc003fpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(613-615)CAT>AAT		lipase, member H precursor							294.0	244.0	261.0					3																	185245287		2203	4300	6503	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185245287G>T	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.613C>A	3.37:g.185245287G>T	ENSP00000296252:p.His205Asn					LIPH_uc010hyh.2_Intron	p.H205N	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		4	723	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		205		Missing (in LAH2).			A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.613C>A	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410345	0.83340	.	.	ENSG00000163898	ENST00000296252	D	0.97279	-4.32	5.68	5.68	0.88126	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99243	1.0885	10	0.87932	D	0	-19.0133	18.7716	0.91894	0.0:0.0:1.0:0.0	.	205	Q8WWY8	LIPH_HUMAN	N	205	ENSP00000296252:H205N	ENSP00000296252:H205N	H	-	1	0	LIPH	186727981	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	9.313000	0.96297	2.682000	0.91365	0.561000	0.74099	CAT		PASS	0.517	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			7	118	7	118	---	---	---	---
EIF4A2	1974	broad.mit.edu	37	3	186504960	186504960	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:186504960C>A	ENST00000323963.5	+	8	880	c.816C>A	c.(814-816)acC>acA	p.T272T	SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.T273T|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000356531.5_Silent_p.T177T			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	272	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.T272T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGACACTGACCATTACACAGG	0.413			T	BCL6	NHL																																	uc003fqs.2				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(814-816)ACC>ACA		eukaryotic translation initiation factor 4A2							118.0	118.0	118.0					3																	186504960		2203	4300	6503	SO:0001819	synonymous_variant	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186504960C>A	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.816C>A	3.37:g.186504960C>A						EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Silent_p.T273T|EIF4A2_uc003fqv.2_Silent_p.T177T|EIF4A2_uc003fqw.2_Silent_p.T177T|EIF4A2_uc011bsb.1_Silent_p.T145T|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	p.T272T	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	8	855	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		272			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	ENST00000323963.5	37	c.816C>A	CCDS3282.1																																																																																				PASS	0.413	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		8	169	8	169	---	---	---	---
RTP1	132112	broad.mit.edu	37	3	186917839	186917839	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:186917839C>A	ENST00000312295.4	+	2	803	c.773C>A	c.(772-774)tCt>tAt	p.S258Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	258					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.S258Y(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTGCAGTTCTCTTTCCGTAGC	0.562																																						uc003frg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(772-774)TCT>TAT		receptor transporting protein 1							85.0	82.0	83.0					3																	186917839		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917839C>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.773C>A	3.37:g.186917839C>A	ENSP00000311712:p.Ser258Tyr						p.S258Y	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	803	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		258			Helical; (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.773C>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597131	0.66332	.	.	ENSG00000175077	ENST00000312295	T	0.33865	1.39	5.74	5.74	0.90152	.	0.185948	0.40064	N	0.001184	T	0.32194	0.0821	L	0.29908	0.895	0.33671	D	0.610962	P	0.46277	0.875	B	0.42882	0.401	T	0.49051	-0.8979	10	0.72032	D	0.01	.	15.418	0.74987	0.0:1.0:0.0:0.0	.	258	P59025	RTP1_HUMAN	Y	258	ENSP00000311712:S258Y	ENSP00000311712:S258Y	S	+	2	0	RTP1	188400533	0.995000	0.38212	1.000000	0.80357	0.904000	0.53231	3.524000	0.53495	2.723000	0.93209	0.655000	0.94253	TCT		PASS	0.562	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		12	73	12	73	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186959294	186959294	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:186959294C>A	ENST00000337774.5	-	10	1667	c.1278G>T	c.(1276-1278)ggG>ggT	p.G426G	MASP1_ENST00000392472.2_Silent_p.G313G|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Silent_p.G426G	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	426	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.G426G(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTAGGCTTCTCCCCAATACTT	0.478																																						uc003frh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|liver(1)	4						c.(1276-1278)GGG>GGT		mannan-binding lectin serine protease 1 isoform							147.0	140.0	142.0					3																	186959294		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186959294C>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1278G>T	3.37:g.186959294C>A						MASP1_uc003fri.2_Silent_p.G426G|MASP1_uc003frj.2_Silent_p.G395G	p.G426G	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	10	1610	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		426			Sushi 2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1278G>T	CCDS33907.1																																																																																				PASS	0.478	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		7	125	7	125	---	---	---	---
CLDN16	10686	broad.mit.edu	37	3	190127775	190127775	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:190127775G>T	ENST00000264734.2	+	5	1116	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	CLDN16_ENST00000456423.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	290					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.A290S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTCATACTCAGCCCCTCGCAC	0.438																																						uc003fsi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)GCC>TCC		claudin 16							108.0	108.0	108.0					3																	190127775		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190127775G>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.868G>T	3.37:g.190127775G>T	ENSP00000264734:p.Ala290Ser					CLDN16_uc010hze.2_3'UTR	p.A290S	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	5	936	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		290			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264734.2	37	c.868G>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	6.960	0.547110	0.13312	.	.	ENSG00000113946	ENST00000264734	D	0.89617	-2.54	5.71	0.569	0.17340	.	0.558625	0.18047	N	0.153427	T	0.79695	0.4490	L	0.41236	1.265	0.09310	N	0.999997	B	0.24258	0.1	B	0.19148	0.024	T	0.62849	-0.6767	10	0.23302	T	0.38	-34.5264	5.9263	0.19114	0.2713:0.4048:0.3239:0.0	.	290	Q9Y5I7	CLD16_HUMAN	S	290	ENSP00000264734:A290S	ENSP00000264734:A290S	A	+	1	0	CLDN16	191610469	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.383000	0.20651	0.075000	0.16796	-0.142000	0.14014	GCC		PASS	0.438	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		6	83	6	83	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	191888391	191888391	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:191888391C>A	ENST00000454309.2	-	4	1294	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L	FGF12_ENST00000430714.1_Missense_Mutation_p.V58L|FGF12_ENST00000445105.2_Missense_Mutation_p.V95L|FGF12_ENST00000264730.3_Missense_Mutation_p.V95L|FGF12_ENST00000450716.1_Missense_Mutation_p.V95L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	157					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.V157L(1)|p.V29L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GAATAGATCACATAGTAGTTT	0.368																																						uc003fsx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(469-471)GTG>TTG		fibroblast growth factor 12 isoform 1							179.0	184.0	183.0					3																	191888391		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191888391C>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.469G>T	3.37:g.191888391C>A	ENSP00000413496:p.Val157Leu					FGF12_uc003fsy.2_Missense_Mutation_p.V95L	p.V157L	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	4	1295	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	157					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.469G>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812395	0.70912	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	M	0.67397	2.05	0.80722	D	1	P;D	0.56035	0.843;0.974	P;P	0.55303	0.488;0.773	D	0.83954	0.0318	10	0.32370	T	0.25	.	14.6881	0.69065	0.0:0.9307:0.0:0.0693	.	95;157	P61328-2;P61328	.;FGF12_HUMAN	L	95;95;95;157;52;95;58;71;95	ENSP00000264730:V95L;ENSP00000393686:V95L;ENSP00000413496:V157L;ENSP00000400948:V52L;ENSP00000397635:V95L;ENSP00000410125:V58L;ENSP00000412904:V71L;ENSP00000395517:V95L	ENSP00000264730:V95L	V	-	1	0	FGF12	193371085	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.487000	0.81328	1.578000	0.49821	0.655000	0.94253	GTG		PASS	0.368	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		8	259	8	259	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193349413	193349413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:193349413G>T	ENST00000392438.3	+	6	871	c.637G>T	c.(637-639)Gag>Tag	p.E213*	OPA1_ENST00000361828.2_Nonsense_Mutation_p.E231*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.E214*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.E250*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.E232*|OPA1_ENST00000361510.2_Nonsense_Mutation_p.E268*	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	213					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.E268*(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTCAGACAAAGAGAAAATTGA	0.284																																						uc003ftm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(637-639)GAG>TAG		optic atrophy 1 isoform 1							58.0	67.0	64.0					3																	193349413		2203	4296	6499	SO:0001587	stop_gained	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193349413G>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.637G>T	3.37:g.193349413G>T	ENSP00000376233:p.Glu213*					OPA1_uc003ftg.2_Nonsense_Mutation_p.E268*|OPA1_uc003fth.2_Nonsense_Mutation_p.E232*|OPA1_uc003fti.2_Nonsense_Mutation_p.E250*|OPA1_uc003ftj.2_Nonsense_Mutation_p.E231*|OPA1_uc003ftk.2_Nonsense_Mutation_p.E214*|OPA1_uc003ftl.2_Nonsense_Mutation_p.E195*|OPA1_uc003ftn.2_Nonsense_Mutation_p.E177*	p.E213*	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	6	871	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		213			Mitochondrial intermembrane (By similarity).|Potential.		D3DNW4	Nonsense_Mutation	SNP	ENST00000392438.3	37	c.637G>T	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.836823|7.836823	0.98516|0.98516	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150|ENST00000434811	.|T	.|0.66099	.|-0.19	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.228496|.	0.51477|.	D|.	0.000081|.	.|T	.|0.78786	.|0.4338	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81070	.|-0.1099	.|5	0.42905|0.87932	T|D	0.14|0	-19.0364|-19.0364	18.5711|18.5711	0.91136|0.91136	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	250;213;268;232;231;214|130	.|ENSP00000409084:K130N	ENSP00000354781:E214X|ENSP00000409084:K130N	E|K	+|+	1|3	0|2	OPA1|OPA1	194832107|194832107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.517000|9.517000	0.98020|0.98020	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAG|AAG		PASS	0.284	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		10	290	10	290	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194366966	194366966	+	Missense_Mutation	SNP	C	C	A	rs542613557		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:194366966C>A	ENST00000265245.5	-	12	1864	c.1550G>T	c.(1549-1551)cGa>cTa	p.R517L	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	517					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R517L(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CATGAATCCTCGCATGTCTGT	0.448																																						uc003fui.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1549-1551)CGA>CTA		large subunit GTPase 1							150.0	133.0	139.0					3																	194366966		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194366966C>A		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1550G>T	3.37:g.194366966C>A	ENSP00000265245:p.Arg517Leu						p.R517L	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	12	1865	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		517					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.1550G>T	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.405928|4.405928	0.83230|0.83230	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|T	.|0.22945	.|1.93	5.58|5.58	5.58|5.58	0.84498|0.84498	.|GTP-binding protein, orthogonal bundle domain (1);	.|0.047632	.|0.85682	.|D	.|0.000000	.|T	.|0.62612	.|0.2442	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.71080	.|-0.4696	.|10	.|0.87932	.|D	.|0	.|.	19.5831|19.5831	0.95478|0.95478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|517	.|Q9H089	.|LSG1_HUMAN	X|L	234|517	.|ENSP00000265245:R517L	.|ENSP00000265245:R517L	E|R	-|-	1|2	0|0	LSG1|LSG1	195848255|195848255	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.324000|0.324000	0.28378|0.28378	7.783000|7.783000	0.85696|0.85696	2.641000|2.641000	0.89580|0.89580	0.563000|0.563000	0.77884|0.77884	GAG|CGA		PASS	0.448	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		5	118	5	118	---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195780393	195780393	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:195780393G>T	ENST00000360110.4	-	18	2105	c.1936C>A	c.(1936-1938)Cgt>Agt	p.R646S	TFRC_ENST00000420415.1_Missense_Mutation_p.R565S|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.R364S|TFRC_ENST00000392396.3_Missense_Mutation_p.R646S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	646	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.R646S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AAGTCTCCACGAGCAGAATAC	0.403			T	BCL6	NHL																																	uc003fvz.3				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1936-1938)CGT>AGT		transferrin receptor							115.0	116.0	116.0					3																	195780393		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195780393G>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1936C>A	3.37:g.195780393G>T	ENSP00000353224:p.Arg646Ser					TFRC_uc003fwa.3_Missense_Mutation_p.R646S|TFRC_uc010hzy.2_Missense_Mutation_p.R565S|TFRC_uc011btr.1_Missense_Mutation_p.R364S	p.R646S	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	18	2219	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		646	R->A,H: No binding to transferrin.|R->K: 5% binding to transferrin.		Cell attachment site; required for binding to transferrin.|Extracellular (Potential).|Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1936C>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865205	0.71949	.	.	ENSG00000072274	ENST00000426789;ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.6	5.6	0.85130	Transferrin receptor-like, dimerisation domain (3);	0.274240	0.41712	D	0.000829	T	0.74291	0.3697	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73820	-0.3862	10	0.41790	T	0.15	-15.0455	13.5546	0.61751	0.0:0.0:0.8446:0.1554	.	646	P02786	TFR1_HUMAN	S	58;646;565;646;364	ENSP00000414015:R58S;ENSP00000353224:R646S;ENSP00000390133:R565S;ENSP00000376197:R646S;ENSP00000437753:R364S	ENSP00000353224:R646S	R	-	1	0	TFRC	197264790	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.736000	0.47385	2.635000	0.89317	0.655000	0.94253	CGT		PASS	0.403	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			5	110	5	110	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196129834	196129834	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:196129834G>T	ENST00000296328.4	-	3	352	c.278C>A	c.(277-279)cCa>cAa	p.P93Q	RN7SL738P_ENST00000470264.2_RNA|UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	93						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.P93Q(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACCAAATAATGGTTCTGGTTC	0.338																																						uc003fwm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(277-279)CCA>CAA		UBX domain containing 7							176.0	175.0	176.0					3																	196129834		1827	4076	5903	SO:0001583	missense	26043						protein binding	g.chr3:196129834G>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.278C>A	3.37:g.196129834G>T	ENSP00000296328:p.Pro93Gln					UBXN7_uc003fwn.3_5'UTR|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.P93Q	p.P93Q	NM_015562	NP_056377	O94888	UBXN7_HUMAN			3	353	-			93					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.278C>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059592	0.55325	.	.	ENSG00000163960	ENST00000296328;ENST00000413584	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	N	0.17082	0.46	0.80722	D	1	D;B	0.89917	1.0;0.278	D;B	0.85130	0.997;0.055	T	0.60265	-0.7297	9	0.29301	T	0.29	-3.0927	17.4702	0.87643	0.0:0.0:1.0:0.0	.	60;93	C9JD50;O94888	.;UBXN7_HUMAN	Q	93;60	.	ENSP00000296328:P93Q	P	-	2	0	UBXN7	197614231	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.178000	0.89690	2.720000	0.93068	0.557000	0.71058	CCA		PASS	0.338	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		12	320	12	320	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196867071	196867071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr3:196867071G>T	ENST00000419354.1	-	9	1038	c.752C>A	c.(751-753)tCa>tAa	p.S251*	DLG1_ENST00000422288.1_Nonsense_Mutation_p.S200*|DLG1_ENST00000452595.1_Nonsense_Mutation_p.S135*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.S218*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.S200*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.S218*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.S251*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.S218*|DLG1_ENST00000443183.1_Nonsense_Mutation_p.S135*|DLG1_ENST00000346964.2_Nonsense_Mutation_p.S251*			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	251	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.S251*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GAAAATACTTGAGTCATCTCC	0.423																																						uc003fxo.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(751-753)TCA>TAA		discs, large homolog 1 isoform 1							149.0	144.0	146.0					3																	196867071		2203	4300	6503	SO:0001587	stop_gained	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196867071G>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.752C>A	3.37:g.196867071G>T	ENSP00000407531:p.Ser251*					DLG1_uc011bub.1_Nonsense_Mutation_p.S135*|DLG1_uc011buc.1_Nonsense_Mutation_p.S135*|DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Nonsense_Mutation_p.S251*|DLG1_uc011bue.1_Nonsense_Mutation_p.S218*|DLG1_uc010ial.2_Nonsense_Mutation_p.S251*|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.S218*|DLG1_uc010ian.2_Nonsense_Mutation_p.S118*	p.S251*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	9	942	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	251			PDZ 1.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Nonsense_Mutation	SNP	ENST00000419354.1	37	c.752C>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386491	0.95967	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466;ENST00000453607	.	.	.	5.67	5.67	0.87782	.	0.311359	0.31031	N	0.008390	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	12.4446	0.55643	0.0765:0.0:0.9235:0.0	.	.	.	.	X	251;251;218;251;200;251;135;200;251;135;218;218;60;104	.	ENSP00000321087:S200X	S	-	2	0	DLG1	198351468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.632000	0.83247	2.823000	0.97156	0.591000	0.81541	TCA		PASS	0.423	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		7	108	7	108	---	---	---	---
ZNF141	7700	broad.mit.edu	37	4	343949	343949	+	Intron	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:343949C>A	ENST00000240499.7	+	3	375				ZNF141_ENST00000512994.1_Intron|MIR571_ENST00000384910.1_RNA|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141						anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						tcagaatcctcagtaagacca	0.488																																						hsa-mir-571|MI0003578																			0					0															160.0	140.0	146.0					4																	343949		1568	3582	5150	SO:0001627	intron_variant	693156							g.chr4:343949C>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.226+5730C>A	4.37:g.343949C>A						ZNF141_uc003fzz.2_Intron|ZNF141_uc003gaa.2_Intron|ZNF141_uc003gab.2_Intron										+								Q6DK07	RNA	SNP	ENST00000240499.7	37	c.4C>A	CCDS33931.1																																																																																				PASS	0.488	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		6	52	6	52	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	438027	438027	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:438027G>T	ENST00000338977.5	-	2	241	c.193C>A	c.(193-195)Cag>Aag	p.Q65K	ZNF721_ENST00000511833.2_Missense_Mutation_p.Q77K|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	65					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q77K(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTTTGCTCTGAGTATTTGAC	0.303																																						uc003gag.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)CAG>AAG		zinc finger protein 721							64.0	70.0	68.0					4																	438027		2002	4222	6224	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:438027G>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.193C>A	4.37:g.438027G>T	ENSP00000340524:p.Gln65Lys					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Q109K|ZNF721_uc010ibe.2_Missense_Mutation_p.Q65K	p.Q77K	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	920	-			77					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.229C>A		.	.	.	.	.	.	.	.	.	.	G	4.933	0.173425	0.09391	.	.	ENSG00000182903	ENST00000338977;ENST00000511833;ENST00000505900	T;T;T	0.05786	3.39;3.42;6.11	1.22	0.227	0.15359	.	.	.	.	.	T	0.06872	0.0175	L	0.60455	1.87	0.09310	N	1	B;B;B	0.16603	0.01;0.01;0.018	B;B;B	0.06405	0.001;0.001;0.002	T	0.34453	-0.9828	9	0.59425	D	0.04	.	4.0493	0.09788	0.4785:0.0:0.5215:0.0	.	65;77;77	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	K	65;77;109	ENSP00000340524:Q65K;ENSP00000428878:Q77K;ENSP00000421325:Q109K	ENSP00000340524:Q65K	Q	-	1	0	ZNF721	428027	0.014000	0.17966	0.001000	0.08648	0.013000	0.08279	1.452000	0.35156	-0.218000	0.10018	0.205000	0.17691	CAG		PASS	0.303	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	77	6	77	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3189401	3189401	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:3189401G>T	ENST00000355072.5	+	39	5158	c.5013G>T	c.(5011-5013)ctG>ctT	p.L1671L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1671					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.L1671L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTTCAACTGTGGATATCGG	0.398																																						uc011bvq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(5017-5019)CTG>CTT		huntingtin							199.0	181.0	186.0					4																	3189401		1834	4096	5930	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3189401G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5013G>T	4.37:g.3189401G>T							p.L1673L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	40	5164	+		all_epithelial(65;0.18)	1671					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.5019G>T	CCDS43206.1																																																																																				PASS	0.398	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	150	7	150	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5837709	5837709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:5837709G>T	ENST00000397890.2	-	11	1428	c.1214C>A	c.(1213-1215)tCg>tAg	p.S405*	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Nonsense_Mutation_p.S403*|CRMP1_ENST00000324989.7_Nonsense_Mutation_p.S519*	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	405					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S519*(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTCGGCATCCGAGCCCACGGC	0.517																																						uc003gip.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1213-1215)TCG>TAG		collapsin response mediator protein 1 isoform 2							149.0	135.0	140.0					4																	5837709		2203	4300	6503	SO:0001587	stop_gained	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5837709G>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1214C>A	4.37:g.5837709G>T	ENSP00000380987:p.Ser405*					CRMP1_uc003gin.1_Nonsense_Mutation_p.S317*|CRMP1_uc003giq.2_Nonsense_Mutation_p.S405*|CRMP1_uc003gir.2_Nonsense_Mutation_p.S400*|CRMP1_uc003gis.2_Nonsense_Mutation_p.S519*	p.S405*	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	12	1315	-			405					A0EJG6|Q13024|Q4W5F1|Q96TC8	Nonsense_Mutation	SNP	ENST00000397890.2	37	c.1214C>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	42	9.673745	0.99236	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9234	16.3427	0.83092	0.0:0.0:1.0:0.0	.	.	.	.	X	519;405;405;403	.	ENSP00000321606:S519X	S	-	2	0	CRMP1	5888610	1.000000	0.71417	0.963000	0.40424	0.714000	0.41099	9.213000	0.95133	2.418000	0.82041	0.508000	0.49915	TCG		PASS	0.517	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		6	56	6	56	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22422582	22422582	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:22422582G>T	ENST00000334304.5	-	12	2005	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	GPR125_ENST00000502482.1_Missense_Mutation_p.P579Q|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.P353Q	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	579					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.P579Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTTTCCCTCTGGATCCCGCCT	0.463																																						uc003gqm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1735-1737)CCA>CAA		G protein-coupled receptor 125 precursor							200.0	206.0	204.0					4																	22422582		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422582G>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1736C>A	4.37:g.22422582G>T	ENSP00000334952:p.Pro579Gln					GPR125_uc010ieo.1_Missense_Mutation_p.P453Q|GPR125_uc003gqn.1_Missense_Mutation_p.P353Q|GPR125_uc003gqo.2_Missense_Mutation_p.P579Q	p.P579Q	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			12	2001	-		Breast(46;0.198)	579			Extracellular (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1736C>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830042	0.32329	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56776	0.62;0.44	5.1	2.45	0.29901	.	0.119600	0.56097	D	0.000032	T	0.40743	0.1129	L	0.38175	1.15	0.39086	D	0.960995	B;B;P;P	0.40794	0.008;0.021;0.729;0.61	B;B;B;B	0.38803	0.026;0.029;0.282;0.205	T	0.33266	-0.9875	10	0.56958	D	0.05	-52.0999	10.1418	0.42740	0.2626:0.0:0.7374:0.0	.	454;579;353;579	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	Q	579;353;579	ENSP00000334952:P579Q;ENSP00000421006:P579Q	ENSP00000334952:P579Q	P	-	2	0	GPR125	22031680	0.999000	0.42202	0.214000	0.23707	0.653000	0.38743	2.974000	0.49272	0.267000	0.21916	0.655000	0.94253	CCA		PASS	0.463	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	222	9	222	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25783963	25783963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:25783963G>T	ENST00000399878.3	-	15	2480	c.2358C>A	c.(2356-2358)taC>taA	p.Y786*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.Y633*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.Y751*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	786						integral component of membrane (GO:0016021)		p.Y786*(1)|p.Y633*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTTAACCAGTACTTTGCTG	0.438																																						uc003gru.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2356-2358)TAC>TAA		sel-1 suppressor of lin-12-like 3							207.0	190.0	195.0					4																	25783963		1868	4114	5982	SO:0001587	stop_gained	23231					integral to membrane	binding	g.chr4:25783963G>T	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.2358C>A	4.37:g.25783963G>T	ENSP00000382767:p.Tyr786*					SEL1L3_uc003grv.2_Nonsense_Mutation_p.Y193*	p.Y786*	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			15	2510	-			786			Sel1-like 5.		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	ENST00000399878.3	37	c.2358C>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	40	8.420510	0.98803	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	.	.	.	5.66	4.81	0.61882	.	0.414434	0.25291	N	0.031738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4383	11.2064	0.48771	0.141:0.0:0.859:0.0	.	.	.	.	X	786;751;633	.	ENSP00000264868:Y751X	Y	-	3	2	SEL1L3	25393061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.285000	0.43487	2.665000	0.90641	0.563000	0.77884	TAC		PASS	0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		5	52	5	52	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36214902	36214902	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:36214902C>A	ENST00000303965.4	-	4	1493	c.1004G>T	c.(1003-1005)gGa>gTa	p.G335V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	335					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.G335V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAAGGTCTCTCCATAAGGAAA	0.328																																						uc003gsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1003-1005)GGA>GTA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							69.0	73.0	72.0					4																	36214902		2203	4299	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36214902C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1004G>T	4.37:g.36214902C>A	ENSP00000302895:p.Gly335Val					ARAP2_uc003gsr.1_Missense_Mutation_p.G335V	p.G335V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			4	1342	-			335					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.1004G>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983237	0.74474	.	.	ENSG00000047365	ENST00000303965	T	0.28069	1.63	5.57	5.57	0.84162	.	0.077992	0.51477	D	0.000084	T	0.50274	0.1606	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61658	0.892;0.892	T	0.39482	-0.9612	10	0.41790	T	0.15	.	15.4084	0.74900	0.0:1.0:0.0:0.0	.	265;335	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	V	335	ENSP00000302895:G335V	ENSP00000302895:G335V	G	-	2	0	ARAP2	35891297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.297000	0.43593	2.785000	0.95823	0.591000	0.81541	GGA		PASS	0.328	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		6	95	6	95	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38097700	38097700	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:38097700C>A	ENST00000261439.4	+	14	2742	c.2387C>A	c.(2386-2388)gCt>gAt	p.A796D	TBC1D1_ENST00000508802.1_Missense_Mutation_p.A890D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	796					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.A796D(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ATGCACTCGGCTGTTGGGCAA	0.403																																						uc003gtb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2386-2388)GCT>GAT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							77.0	80.0	79.0					4																	38097700		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38097700C>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2387C>A	4.37:g.38097700C>A	ENSP00000261439:p.Ala796Asp					TBC1D1_uc011byd.1_Missense_Mutation_p.A890D|TBC1D1_uc010ifd.2_Missense_Mutation_p.A583D	p.A796D	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			14	2730	+			796					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.2387C>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895829	0.91962	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.04454	3.62;3.62	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.000000	0.53938	D	0.000042	T	0.22003	0.0530	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.98	P;D;P	0.81914	0.906;0.995;0.724	T	0.00054	-1.2181	10	0.66056	D	0.02	-12.7656	19.6471	0.95779	0.0:1.0:0.0:0.0	.	890;528;796	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	D	890;796;60	ENSP00000423651:A890D;ENSP00000261439:A796D	ENSP00000261439:A796D	A	+	2	0	TBC1D1	37774095	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	7.294000	0.78760	2.629000	0.89072	0.655000	0.94253	GCT		PASS	0.403	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		5	86	5	86	---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38776168	38776168	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:38776168C>A	ENST00000308973.4	-	4	1649	c.1044G>T	c.(1042-1044)acG>acT	p.T348T	TLR10_ENST00000508334.1_Silent_p.T348T|TLR10_ENST00000506111.1_Silent_p.T348T|TLR10_ENST00000361424.2_Silent_p.T348T|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T348T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTGGAATTTCGTAGGATAAT	0.328																																						uc003gti.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(1042-1044)ACG>ACT		toll-like receptor 10 precursor							84.0	87.0	86.0					4																	38776168		2202	4300	6502	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776168C>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1044G>T	4.37:g.38776168C>A						TLR10_uc003gtj.2_Silent_p.T348T|TLR10_uc003gtk.2_Silent_p.T348T	p.T348T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	1423	-			348			LRR 8.|Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.1044G>T	CCDS3445.1																																																																																				PASS	0.328	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			5	101	5	101	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40123254	40123254	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:40123254C>A	ENST00000261435.6	+	9	3939	c.3523C>A	c.(3523-3525)Cct>Act	p.P1175T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1175					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.P1175T(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCTAATTCTCCTGTGCCAGA	0.418																																						uc003guy.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3523-3525)CCT>ACT		Nedd4 binding protein 2							64.0	68.0	66.0					4																	40123254		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123254C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3523C>A	4.37:g.40123254C>A	ENSP00000261435:p.Pro1175Thr					N4BP2_uc010ifq.2_Missense_Mutation_p.P1095T|N4BP2_uc010ifr.2_Missense_Mutation_p.P1095T	p.P1175T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3861	+			1175					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3523C>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0|0	-2.709924|-2.709924	0.00094|0.00094	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|T	0.16324|0.35048	2.35|1.33	5.34|5.34	-0.0714|-0.0714	0.13743|0.13743	.|.	1.053820|.	0.07346|.	N|.	0.881524|.	T|T	0.13286|0.13286	0.0322|0.0322	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.21280|0.21280	-1.0250|-1.0250	10|7	0.12766|0.22109	T|T	0.61|0.4	-1.7215|-1.7215	0.6135|0.6135	0.00765|0.00765	0.4056:0.1787:0.1203:0.2954|0.4056:0.1787:0.1203:0.2954	.|.	1175;1175|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	T|Y	1175;1095|821	ENSP00000261435:P1175T|ENSP00000426430:S821Y	ENSP00000261435:P1175T|ENSP00000426430:S821Y	P|S	+|+	1|2	0|0	N4BP2|N4BP2	39799649|39799649	0.000000|0.000000	0.05858|0.05858	0.069000|0.069000	0.20011|0.20011	0.005000|0.005000	0.04900|0.04900	-0.012000|-0.012000	0.12699|0.12699	0.400000|0.400000	0.25396|0.25396	-0.471000|-0.471000	0.05019|0.05019	CCT|TCC		PASS	0.418	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		8	70	8	70	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41699182	41699182	+	Missense_Mutation	SNP	G	G	C	rs142431467		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:41699182G>C	ENST00000313860.7	+	27	3286	c.3232G>C	c.(3232-3234)Ggg>Cgg	p.G1078R	LIMCH1_ENST00000512820.1_Missense_Mutation_p.G1064R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G911R|LIMCH1_ENST00000515785.1_3'UTR|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1462R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G905R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G892R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G897R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G975R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G885R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G892R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G1052R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G1051R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1078					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.G1462R(1)|p.G1078R(1)|p.G1462W(1)|p.G1078W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACAGGTGCCGGGCAGCCTAC	0.453																																						uc003gvu.3																			4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(3232-3234)GGG>CGG		LIM and calponin homology domains 1 isoform a							176.0	163.0	167.0					4																	41699182		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41699182G>C	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.3232G>C	4.37:g.41699182G>C	ENSP00000316891:p.Gly1078Arg					LIMCH1_uc003gvv.3_Missense_Mutation_p.G1052R|LIMCH1_uc003gvw.3_Missense_Mutation_p.G1051R|LIMCH1_uc003gvx.3_Missense_Mutation_p.G1064R|LIMCH1_uc003gwe.3_Missense_Mutation_p.G975R|LIMCH1_uc003gvy.3_Missense_Mutation_p.G880R|LIMCH1_uc003gwa.3_Missense_Mutation_p.G892R|LIMCH1_uc003gvz.3_Missense_Mutation_p.G1462R|LIMCH1_uc011byu.1_Missense_Mutation_p.G911R|LIMCH1_uc003gwc.3_Missense_Mutation_p.G897R|LIMCH1_uc003gwd.3_Missense_Mutation_p.G885R|LIMCH1_uc011byv.1_Missense_Mutation_p.G828R|LIMCH1_uc011byw.1_Missense_Mutation_p.G351R|LIMCH1_uc010ifv.2_RNA	p.G1078R	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			27	3286	+			1078					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.3232G>C	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495376	0.64186	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	T;T;T;T;T;T;T;T;T;T;T;T	0.59638	0.45;1.13;1.08;0.9;0.54;1.01;0.33;0.52;0.36;0.25;0.47;0.37	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.994;0.998;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;0.942;0.94;1.0;1.0;1.0;0.969;0.997;0.999;1.0;1.0	T	0.75178	-0.3409	10	0.87932	D	0	-1.1442	18.4085	0.90542	0.0:0.0:1.0:0.0	.	892;828;911;975;885;897;1462;905;1064;1051;1052;1078	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	R	905;1051;1052;1078;975;1064;1462;892;1461;892;911;897;885;404	ENSP00000425222:G905R;ENSP00000424825:G1051R;ENSP00000424645:G1052R;ENSP00000316891:G1078R;ENSP00000427045:G975R;ENSP00000424437:G1064R;ENSP00000425631:G1462R;ENSP00000421242:G892R;ENSP00000426334:G892R;ENSP00000422864:G911R;ENSP00000379840:G897R;ENSP00000371172:G885R	ENSP00000316891:G1078R	G	+	1	0	LIMCH1	41393939	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	7.384000	0.79751	2.778000	0.95560	0.655000	0.94253	GGG		PASS	0.453	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		4	77	4	77	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42553231	42553231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:42553231G>T	ENST00000381668.5	-	18	1817	c.1586C>A	c.(1585-1587)tCg>tAg	p.S529*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.S514*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	529					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S514*(1)|p.S529*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATAATCACCGAGTCGGGTGT	0.353																																						uc003gwr.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1585-1587)TCG>TAG		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						115.0	121.0	119.0					4																	42553231		2203	4300	6503	SO:0001587	stop_gained	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42553231G>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1586C>A	4.37:g.42553231G>T	ENSP00000371084:p.Ser529*					ATP8A1_uc003gws.2_Nonsense_Mutation_p.S514*|ATP8A1_uc011byz.1_Nonsense_Mutation_p.S514*	p.S529*	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			18	1818	-			529			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.1586C>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	42	9.204418	0.99099	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.49	5.49	0.81192	.	0.130596	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.386	0.94556	0.0:0.0:1.0:0.0	.	.	.	.	X	529;514	.	ENSP00000264449:S514X	S	-	2	0	ATP8A1	42247988	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	4.596000	0.61055	2.572000	0.86782	0.585000	0.79938	TCG		PASS	0.353	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		5	120	5	120	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42580325	42580325	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:42580325C>A	ENST00000381668.5	-	12	1311	c.1080G>T	c.(1078-1080)ttG>ttT	p.L360F	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L360F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	360					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L360F(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTAATGTAACCAATAAGCTGA	0.358																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1078-1080)TTG>TTT		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						104.0	104.0	104.0					4																	42580325		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42580325C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1080G>T	4.37:g.42580325C>A	ENSP00000371084:p.Leu360Phe					ATP8A1_uc003gws.2_Missense_Mutation_p.L360F|ATP8A1_uc011byz.1_Missense_Mutation_p.L360F	p.L360F	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			12	1312	-			360			Helical; (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1080G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623673	0.66901	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.88975	-2.45;-2.45	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000002	D	0.91161	0.7216	L	0.33245	0.995	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	D;D;D	0.79108	0.992;0.985;0.972	D	0.87984	0.2745	10	0.19147	T	0.46	.	19.6136	0.95619	0.0:1.0:0.0:0.0	.	360;360;360	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	F	360	ENSP00000371084:L360F;ENSP00000264449:L360F	ENSP00000264449:L360F	L	-	3	2	ATP8A1	42275082	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.776000	0.85560	2.641000	0.89580	0.585000	0.79938	TTG		PASS	0.358	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		6	62	6	62	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47647201	47647201	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:47647201C>A	ENST00000273857.4	-	14	1853	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	CORIN_ENST00000502252.1_Missense_Mutation_p.E551D|CORIN_ENST00000508498.1_Missense_Mutation_p.E479D|CORIN_ENST00000504584.1_Missense_Mutation_p.E581D|CORIN_ENST00000505909.1_Missense_Mutation_p.E581D	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	618	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.E618D(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAAGATCTCTCTCTTTACAAC	0.368																																						uc003gxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1852-1854)GAG>GAT		corin							133.0	129.0	131.0					4																	47647201		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47647201C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1854G>T	4.37:g.47647201C>A	ENSP00000273857:p.Glu618Asp					CORIN_uc011bzf.1_Missense_Mutation_p.E479D|CORIN_uc011bzg.1_Missense_Mutation_p.E551D|CORIN_uc011bzh.1_Missense_Mutation_p.E581D	p.E618D	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			14	1947	-			618			Extracellular (Potential).|LDL-receptor class A 6.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1854G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675042	0.47781	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.93019	-2.67;-2.67;-2.66;-2.54;-3.15	6.07	3.1	0.35709	.	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	L	0.56340	1.77	0.31236	N	0.695775	D;B;B	0.76494	0.999;0.146;0.146	P;B;B	0.61070	0.883;0.048;0.079	D	0.88426	0.3032	10	0.13470	T	0.59	.	8.9339	0.35688	0.0:0.601:0.0:0.399	.	581;551;618	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	D	618;479;551;581;581	ENSP00000273857:E618D;ENSP00000425597:E479D;ENSP00000424212:E551D;ENSP00000425401:E581D;ENSP00000423216:E581D	ENSP00000273857:E618D	E	-	3	2	CORIN	47341958	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.986000	0.29590	0.309000	0.22966	0.655000	0.94253	GAG		PASS	0.368	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			6	51	6	51	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47667239	47667239	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:47667239G>T	ENST00000273857.4	-	11	1398	c.1399C>A	c.(1399-1401)Ccc>Acc	p.P467T	CORIN_ENST00000502252.1_Missense_Mutation_p.P400T|CORIN_ENST00000508498.1_Missense_Mutation_p.P328T|CORIN_ENST00000504584.1_Missense_Mutation_p.P430T|CORIN_ENST00000505909.1_Missense_Mutation_p.P430T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	467	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.P467T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTGTTGTAGGGCAAATTCATG	0.353																																						uc003gxm.2																			1	Substitution - Missense(1)	p.P467R(1)	lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1399-1401)CCC>ACC		corin							89.0	88.0	89.0					4																	47667239		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667239G>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1399C>A	4.37:g.47667239G>T	ENSP00000273857:p.Pro467Thr					CORIN_uc011bzf.1_Missense_Mutation_p.P328T|CORIN_uc011bzg.1_Missense_Mutation_p.P400T|CORIN_uc011bzh.1_Missense_Mutation_p.P430T|CORIN_uc011bzi.1_Missense_Mutation_p.P430T	p.P467T	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			11	1492	-			467			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1399C>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225705	0.58668	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.90021	0.6884	M	0.77712	2.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.984;0.984	D;D;P;P	0.91635	0.999;0.999;0.906;0.906	D	0.90038	0.4140	10	0.54805	T	0.06	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	430;430;400;467	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	T	467;328;400;430;430	ENSP00000273857:P467T;ENSP00000425597:P328T;ENSP00000424212:P400T;ENSP00000425401:P430T;ENSP00000423216:P430T	ENSP00000273857:P467T	P	-	1	0	CORIN	47361996	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	8.853000	0.92222	2.729000	0.93468	0.650000	0.86243	CCC		PASS	0.353	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			13	62	13	62	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861072	52861072	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:52861072C>G	ENST00000343457.3	-	4	2122	c.2116G>C	c.(2116-2118)Gat>Cat	p.D706H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	706						integral component of membrane (GO:0016021)		p.D706H(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GACCCCTCATCAGAGTCACAG	0.527																																						uc003gzi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2116-2118)GAT>CAT		leucine rich repeat containing 66							93.0	87.0	89.0					4																	52861072		1990	4177	6167	SO:0001583	missense	339977					integral to membrane		g.chr4:52861072C>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2116G>C	4.37:g.52861072C>G	ENSP00000341944:p.Asp706His						p.D706H	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2129	-			706						Missense_Mutation	SNP	ENST00000343457.3	37	c.2116G>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579458	0.46006	.	.	ENSG00000188993	ENST00000343457	T	0.34859	1.34	4.48	3.64	0.41730	.	0.254375	0.28252	N	0.016033	T	0.44850	0.1313	L	0.32530	0.975	0.28402	N	0.918584	D	0.89917	1.0	D	0.70227	0.968	T	0.29761	-1.0001	10	0.87932	D	0	-13.5144	9.8392	0.40989	0.0:0.9033:0.0:0.0967	.	706	Q68CR7	LRC66_HUMAN	H	706	ENSP00000341944:D706H	ENSP00000341944:D706H	D	-	1	0	LRRC66	52555829	0.992000	0.36948	0.090000	0.20809	0.002000	0.02628	3.622000	0.54217	1.248000	0.43934	-0.136000	0.14681	GAT		PASS	0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		6	51	6	51	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52948573	52948573	+	Nonsense_Mutation	SNP	C	C	A	rs146699723		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:52948573C>A	ENST00000295213.4	+	10	1750	c.1376C>A	c.(1375-1377)tCg>tAg	p.S459*	SPATA18_ENST00000419395.2_Nonsense_Mutation_p.S427*	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	459					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.S459*(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCTACGACTCGGATTTCACT	0.448																																						uc003gzl.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1375-1377)TCG>TAG		spermatogenesis associated 18 homolog							164.0	148.0	153.0					4																	52948573		2203	4300	6503	SO:0001587	stop_gained	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52948573C>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1376C>A	4.37:g.52948573C>A	ENSP00000295213:p.Ser459*					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Nonsense_Mutation_p.S427*|SPATA18_uc003gzk.1_Nonsense_Mutation_p.S459*	p.S459*	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		10	1654	+			459					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Nonsense_Mutation	SNP	ENST00000295213.4	37	c.1376C>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.213389	0.98139	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3622	18.1573	0.89696	0.0:1.0:0.0:0.0	.	.	.	.	X	459;427	.	ENSP00000295213:S459X	S	+	2	0	SPATA18	52643330	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	7.002000	0.76304	2.894000	0.99253	0.655000	0.94253	TCG		PASS	0.448	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		7	114	7	114	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55594022	55594022	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:55594022T>A	ENST00000288135.5	+	12	1905	c.1808T>A	c.(1807-1809)gTt>gAt	p.V603D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	603	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V603D(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGGGAAGGTTGTTGAGGCA	0.493		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - Missense(1)		lung(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1807-1809)GTT>GAT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						103.0	90.0	94.0					4																	55594022		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55594022T>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1808T>A	4.37:g.55594022T>A	ENSP00000288135:p.Val603Asp					KIT_uc010igs.2_Missense_Mutation_p.V599D|KIT_uc010igt.1_Missense_Mutation_p.V52D	p.V603D	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	12	1895	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		603			ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1808T>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940726	0.73557	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.96940	-4.18;-4.18	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000051	D	0.98754	0.9581	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99636	1.0987	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	110;599;603	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	D	603;599	ENSP00000288135:V603D;ENSP00000390987:V599D	ENSP00000288135:V603D	V	+	2	0	KIT	55288779	1.000000	0.71417	0.467000	0.27180	0.337000	0.28794	7.963000	0.87922	2.371000	0.80710	0.533000	0.62120	GTT		PASS	0.493	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			19	58	19	58	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56736987	56736987	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:56736987G>T	ENST00000381295.2	+	6	1095	c.747G>T	c.(745-747)atG>atT	p.M249I	EXOC1_ENST00000349598.6_Missense_Mutation_p.M249I|EXOC1_ENST00000346134.7_Missense_Mutation_p.M249I	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	249					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.M249I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAGAACAAATGGATCAGATCT	0.358																																						uc003hbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(745-747)ATG>ATT		exocyst complex component 1 isoform 1							106.0	109.0	108.0					4																	56736987		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56736987G>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.747G>T	4.37:g.56736987G>T	ENSP00000370695:p.Met249Ile					EXOC1_uc003hbf.1_Missense_Mutation_p.M249I|EXOC1_uc003hbg.1_Missense_Mutation_p.M249I	p.M249I	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			6	905	+	Glioma(25;0.08)|all_neural(26;0.101)		249			Potential.		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.747G>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823371	0.90873	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	5.85	0.93711	.	0.035405	0.85682	D	0.000000	T	0.74390	0.3710	M	0.62209	1.925	0.80722	D	1	D;P	0.61080	0.989;0.872	D;P	0.72982	0.979;0.679	T	0.66771	-0.5839	9	0.02654	T	1	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	249;249	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	I	249	.	ENSP00000326514:M249I	M	+	3	0	EXOC1	56431744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.768000	0.95171	0.655000	0.94253	ATG		PASS	0.358	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		6	79	6	79	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56878050	56878050	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:56878050G>A	ENST00000257287.4	+	21	2825	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	901					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E901K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCATCAAGCTGAGGGAGAAAG	0.398																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2701-2703)GAG>AAG		centrosome protein 4							72.0	71.0	72.0					4																	56878050		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56878050G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2701G>A	4.37:g.56878050G>A	ENSP00000257287:p.Glu901Lys					CEP135_uc003hbj.2_Missense_Mutation_p.E607K	p.E901K	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			21	2935	+	Glioma(25;0.08)|all_neural(26;0.101)		901			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.2701G>A	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938302	0.92526	.	.	ENSG00000174799	ENST00000257287	T	0.15017	2.46	5.69	4.85	0.62838	.	0.089085	0.85682	N	0.000000	T	0.41673	0.1169	M	0.74258	2.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.76071	0.987	T	0.30327	-0.9982	10	0.44086	T	0.13	.	14.7213	0.69308	0.0694:0.0:0.9306:0.0	.	901	Q66GS9	CP135_HUMAN	K	901	ENSP00000257287:E901K	ENSP00000257287:E901K	E	+	1	0	CEP135	56572807	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	5.791000	0.69045	1.533000	0.49186	0.655000	0.94253	GAG		PASS	0.398	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		11	73	11	73	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57267592	57267592	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:57267592G>T	ENST00000264220.2	-	7	927	c.790C>A	c.(790-792)Caa>Aaa	p.Q264K	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	264					'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.Q264K(2)		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)	TCAAGAGTTTGGACATTGTGT	0.348																																						uc003hbr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(790-792)CAA>AAA		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						320.0	327.0	325.0					4																	57267592		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.chr4:57267592G>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.790C>A	4.37:g.57267592G>T	ENSP00000264220:p.Gln264Lys						p.Q264K	NM_002703	NP_002694	Q06203	PUR1_HUMAN			7	992	-	Glioma(25;0.08)|all_neural(26;0.101)		264						Missense_Mutation	SNP	ENST00000264220.2	37	c.790C>A	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.301464	0.01364	.	.	ENSG00000128059	ENST00000264220	T	0.75821	-0.97	5.35	1.36	0.22044	.	0.423150	0.29987	N	0.010697	T	0.46210	0.1381	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	10	0.20046	T	0.44	-1.2429	9.0058	0.36111	0.0675:0.0:0.5452:0.3873	.	264	Q06203	PUR1_HUMAN	K	264	ENSP00000264220:Q264K	ENSP00000264220:Q264K	Q	-	1	0	PPAT	56962349	1.000000	0.71417	0.003000	0.11579	0.011000	0.07611	2.062000	0.41413	0.003000	0.14656	-0.142000	0.14014	CAA		PASS	0.348	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		12	423	12	423	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57887065	57887065	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:57887065G>T	ENST00000381227.1	+	18	2737	c.2324G>T	c.(2323-2325)gGc>gTc	p.G775V	POLR2B_ENST00000441246.2_Splice_Site_p.G768V|POLR2B_ENST00000431623.2_Splice_Site_p.G700V|POLR2B_ENST00000314595.5_Splice_Site_p.G775V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	775					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.G775V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCACTGCAGGCATCAACTCA	0.368																																						uc003hcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2323-2325)GGC>GTC		DNA directed RNA polymerase II polypeptide B							118.0	111.0	113.0					4																	57887065		2203	4300	6503	SO:0001630	splice_region_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57887065G>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2324-1G>T	4.37:g.57887065G>T						POLR2B_uc011cae.1_Missense_Mutation_p.G768V|POLR2B_uc011caf.1_Missense_Mutation_p.G700V|POLR2B_uc003hcm.1_Missense_Mutation_p.G268V	p.G775V	NM_000938	NP_000929	P30876	RPB2_HUMAN			17	2367	+	Glioma(25;0.08)|all_neural(26;0.181)		775					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2324G>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725796	0.89298	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.5	5.5	0.81552	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98223	1.0479	9	.	.	.	.	17.569	0.87930	0.0:0.0:1.0:0.0	.	700;775	C9J4M6;P30876	.;RPB2_HUMAN	V	775;700;768;775	ENSP00000370625:G775V;ENSP00000391096:G700V;ENSP00000391452:G768V;ENSP00000312735:G775V	.	G	+	2	0	POLR2B	57581822	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.753000	0.98904	2.570000	0.86706	0.655000	0.94253	GGC		PASS	0.368	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	Missense_Mutation	17	62	17	62	---	---	---	---
TMPRSS11A	339967	broad.mit.edu	37	4	68789880	68789880	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:68789880C>A	ENST00000334830.7	-	6	1241	c.495G>T	c.(493-495)atG>atT	p.M165I	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.M162I|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.M161I			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	165	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.M165I(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTGATGAGCTCATTGCTGAAA	0.328																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(493-495)ATG>ATT		transmembrane protease, serine 11A isoform 1							160.0	173.0	169.0					4																	68789880		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68789880C>A	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.495G>T	4.37:g.68789880C>A	ENSP00000334611:p.Met165Ile					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.M162I	p.M165I	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			6	616	-			165			SEA.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.495G>T	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	9.166	1.020031	0.19433	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188	T;T;T	0.30448	1.53;1.53;1.53	5.02	5.02	0.67125	.	0.105101	0.42053	D	0.000777	T	0.29223	0.0727	M	0.72894	2.215	0.28101	N	0.931414	P;P	0.34724	0.465;0.465	B;B	0.33690	0.168;0.168	T	0.38134	-0.9675	10	0.02654	T	1	.	13.8533	0.63510	0.0:1.0:0.0:0.0	.	162;165	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	I	161;165;162	ENSP00000426911:M161I;ENSP00000334611:M165I;ENSP00000379491:M162I	ENSP00000334611:M165I	M	-	3	0	TMPRSS11A	68472475	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.139000	0.42149	2.334000	0.79466	0.655000	0.94253	ATG		PASS	0.328	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		9	254	9	254	---	---	---	---
UGT2B7	7364	broad.mit.edu	37	4	69978240	69978240	+	Missense_Mutation	SNP	G	G	T	rs371597113		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:69978240G>T	ENST00000305231.7	+	6	1422	c.1376G>T	c.(1375-1377)cGa>cTa	p.R459L	UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	459					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R459L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCCTGGATCGAGCAGTCTTC	0.423																																						uc003heg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1375-1377)CGA>CTA		UDP glucuronosyltransferase 2B7 precursor							112.0	114.0	113.0					4																	69978240		2203	4297	6500	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978240G>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1376G>T	4.37:g.69978240G>T	ENSP00000304811:p.Arg459Leu					UGT2B7_uc010ihq.2_3'UTR	p.R459L	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1422	+			459					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1376G>T	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073236	0.20147	.	.	ENSG00000171234	ENST00000305231	T	0.61627	0.09	2.13	0.253	0.15551	.	0.339461	0.24645	U	0.036762	T	0.52645	0.1747	L	0.50993	1.605	0.38798	D	0.95513	P	0.35468	0.503	P	0.45377	0.478	T	0.42865	-0.9426	9	.	.	.	.	6.1933	0.20536	0.2906:0.0:0.7094:0.0	.	459	P16662	UD2B7_HUMAN	L	459	ENSP00000304811:R459L	.	R	+	2	0	UGT2B7	70012829	0.978000	0.34361	0.552000	0.28243	0.845000	0.48019	1.194000	0.32174	-0.128000	0.11641	-0.683000	0.03753	CGA		PASS	0.423	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		6	123	6	123	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70146440	70146440	+	Silent	SNP	C	C	A	rs540574436	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:70146440C>A	ENST00000335568.5	+	1	224	c.222C>A	c.(220-222)ctC>ctA	p.L74L	UGT2B28_ENST00000511240.1_Silent_p.L74L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	74					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L74L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCTTAAACTCGAAGTTTATC	0.373																																						uc003hej.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(220-222)CTC>CTA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						98.0	118.0	112.0					4																	70146440		2032	4234	6266	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146440C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.222C>A	4.37:g.70146440C>A						UGT2B28_uc010ihr.2_Silent_p.L74L	p.L74L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	224	+			74					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.222C>A	CCDS3528.1																																																																																				PASS	0.373	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		7	164	7	164	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73154561	73154561	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:73154561T>C	ENST00000286657.4	-	21	2992	c.2956A>G	c.(2956-2958)Acg>Gcg	p.T986A		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	986	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T986A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCACCTCCGTTCCTTCACCG	0.532																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2956-2958)ACG>GCG		ADAM metallopeptidase with thrombospondin type 1							80.0	66.0	71.0					4																	73154561		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73154561T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2956A>G	4.37:g.73154561T>C	ENSP00000286657:p.Thr986Ala						p.T986A	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	2993	-			986			TSP type-1 4.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2956A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	8.204	0.798860	0.16397	.	.	ENSG00000156140	ENST00000286657	T	0.54279	0.58	5.36	4.17	0.49024	.	0.217804	0.39020	N	0.001496	T	0.45975	0.1369	L	0.39898	1.24	0.22199	N	0.999294	B	0.25235	0.121	B	0.35971	0.215	T	0.35549	-0.9784	10	0.17369	T	0.5	.	11.7337	0.51752	0.1322:0.0:0.0:0.8678	.	986	O15072	ATS3_HUMAN	A	986	ENSP00000286657:T986A	ENSP00000286657:T986A	T	-	1	0	ADAMTS3	73373425	0.977000	0.34250	0.067000	0.19924	0.306000	0.27790	2.217000	0.42880	0.870000	0.35726	-0.757000	0.03467	ACG		PASS	0.532	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	22	5	22	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73188783	73188783	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:73188783C>A	ENST00000286657.4	-	6	929	c.893G>T	c.(892-894)gGa>gTa	p.G298V	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	298	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G298V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATATGCACTCCGAGGGACTC	0.368																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(892-894)GGA>GTA		ADAM metallopeptidase with thrombospondin type 1							173.0	174.0	174.0					4																	73188783		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73188783C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.893G>T	4.37:g.73188783C>A	ENSP00000286657:p.Gly298Val						p.G298V	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	930	-			298			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.893G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534561	0.85812	.	.	ENSG00000156140	ENST00000286657	D	0.87966	-2.32	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.066395	0.64402	D	0.000011	D	0.95198	0.8443	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95106	0.8234	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	298	O15072	ATS3_HUMAN	V	298	ENSP00000286657:G298V	ENSP00000286657:G298V	G	-	2	0	ADAMTS3	73407647	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.541000	0.67212	2.882000	0.98803	0.655000	0.94253	GGA		PASS	0.368	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			39	220	39	220	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74124090	74124090	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:74124090C>T	ENST00000358602.4	-	1	412	c.296G>A	c.(295-297)gGa>gAa	p.G99E	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G99E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	99	Gly-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G99E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			accgccgcctccaccgccgcc	0.672																																						uc003hgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(295-297)GGA>GAA		ankyrin repeat domain protein 17 isoform a							30.0	32.0	31.0					4																	74124090		2201	4298	6499	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124090C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.296G>A	4.37:g.74124090C>T	ENSP00000351416:p.Gly99Glu					ANKRD17_uc003hgq.2_Missense_Mutation_p.G99E|ANKRD17_uc003hgr.2_Missense_Mutation_p.G99E	p.G99E	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	413	-	Breast(15;0.000295)		99			Gly-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.296G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700960	0.30142	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000411811	D;D	0.85629	-2.01;-2.01	3.91	0.82	0.18793	.	.	.	.	.	T	0.66944	0.2841	N	0.08118	0	0.09310	N	1	P;P;P	0.38110	0.618;0.618;0.484	B;B;B	0.33521	0.118;0.165;0.055	T	0.54166	-0.8334	9	0.19590	T	0.45	.	11.1802	0.48623	0.0:0.4311:0.5689:0.0	.	99;99;99	O75179-2;G5E964;O75179	.;.;ANR17_HUMAN	E	99	ENSP00000351416:G99E;ENSP00000332265:G99E	ENSP00000332265:G99E	G	-	2	0	ANKRD17	74342954	0.366000	0.25014	0.204000	0.23530	0.631000	0.37964	1.693000	0.37742	0.379000	0.24794	-0.479000	0.04858	GGA		PASS	0.672	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		8	21	8	21	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78647416	78647416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:78647416C>A	ENST00000504123.1	-	11	1490	c.1360G>T	c.(1360-1362)Gga>Tga	p.G454*	CNOT6L_ENST00000264903.4_Nonsense_Mutation_p.G454*			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	454	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.G483*(1)|p.G454*(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TCTGAGCTTCCATTCTTTCCA	0.403																																						uc011ccd.1																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(1360-1362)GGA>TGA		CCR4-NOT transcription complex, subunit 6-like							194.0	176.0	182.0					4																	78647416		1861	4107	5968	SO:0001587	stop_gained	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78647416C>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1360G>T	4.37:g.78647416C>A	ENSP00000424896:p.Gly454*					CNOT6L_uc003hks.2_Nonsense_Mutation_p.G454*|CNOT6L_uc003hkt.1_Nonsense_Mutation_p.G297*	p.G454*	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			11	1491	-			454					Q9UF92	Nonsense_Mutation	SNP	ENST00000504123.1	37	c.1360G>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.940294	0.73557	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.	.	.	5.88	5.88	0.94601	.	0.046361	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-2.8656	20.2228	0.98330	0.0:1.0:0.0:0.0	.	.	.	.	X	454;454;461;229	.	ENSP00000264903:G454X	G	-	1	0	CNOT6L	78866440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.691000	0.47010	2.789000	0.95967	0.655000	0.94253	GGA		PASS	0.403	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			8	194	8	194	---	---	---	---
ABCG2	9429	broad.mit.edu	37	4	89052213	89052213	+	Splice_Site	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:89052213C>T	ENST00000237612.3	-	5	1076	c.531G>A	c.(529-531)aaG>aaA	p.K177K	ABCG2_ENST00000515655.1_Splice_Site_p.K177K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	177	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K177K(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TCCACATTACCTTGGAGTCTG	0.408																																						uc003hrg.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(529-531)AAG>AAA		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						220.0	201.0	207.0					4																	89052213		2203	4300	6503	SO:0001630	splice_region_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052213C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.531+1G>A	4.37:g.89052213C>T						ABCG2_uc003hrh.2_Silent_p.K177K|ABCG2_uc003hrf.2_Silent_p.K47K	p.K177K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	1024	-		Hepatocellular(203;0.114)	177			ABC transporter.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.531G>A	CCDS3628.1																																																																																				PASS	0.408	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Silent	43	140	43	140	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95201832	95201832	+	Missense_Mutation	SNP	G	G	T	rs190474922		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:95201832G>T	ENST00000354268.4	+	20	2581	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q838H|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q406H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	836					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q836H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTGTAAACAGTACCGACACA	0.358																																						uc003htc.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2506-2508)CAG>CAT		SWI/SNF-related, matrix-associated							146.0	141.0	142.0					4																	95201832		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95201832G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2508G>T	4.37:g.95201832G>T	ENSP00000346217:p.Gln836His					SMARCAD1_uc003htb.3_Missense_Mutation_p.Q838H|SMARCAD1_uc003htd.3_Missense_Mutation_p.Q838H|SMARCAD1_uc010ila.2_Missense_Mutation_p.Q701H|SMARCAD1_uc011cdw.1_Missense_Mutation_p.Q406H	p.Q836H	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	20	2763	+			836					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2508G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253491	0.39797	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.91407	-2.4;-2.4;-2.4;-2.84	5.38	2.56	0.30785	.	0.000000	0.47093	D	0.000242	T	0.81148	0.4762	N	0.01424	-0.875	0.48395	D	0.999641	D;D	0.56968	0.963;0.978	P;P	0.56474	0.634;0.799	T	0.76838	-0.2811	10	0.29301	T	0.29	-9.8197	7.7214	0.28733	0.5037:0.0:0.4963:0.0	.	836;838	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	H	838;838;836;406	ENSP00000351947:Q838H;ENSP00000415576:Q838H;ENSP00000346217:Q836H;ENSP00000423286:Q406H	ENSP00000346217:Q836H	Q	+	3	2	SMARCAD1	95420855	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.047000	0.30367	0.198000	0.20407	-0.157000	0.13467	CAG		PASS	0.358	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		7	132	7	132	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104062989	104062989	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:104062989C>G	ENST00000265148.3	-	35	5470	c.5381G>C	c.(5380-5382)aGa>aCa	p.R1794T	CENPE_ENST00000380026.3_Missense_Mutation_p.R1769T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1794					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.R1794T(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AACAATTCCTCTGAGTTTGTC	0.313																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(5380-5382)AGA>ACA		centromere protein E							92.0	89.0	90.0					4																	104062989		2201	4299	6500	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062989C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5381G>C	4.37:g.104062989C>G	ENSP00000265148:p.Arg1794Thr					CENPE_uc003hxc.1_Missense_Mutation_p.R1769T|CENPE_uc003hxd.1_5'Flank	p.R1794T	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	35	5471	-			1794			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.5381G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378364	0.42207	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.69435	-0.4;-0.39	4.51	-1.5	0.08691	.	.	.	.	.	T	0.63815	0.2543	M	0.68952	2.095	0.09310	N	1	P;B	0.52692	0.955;0.349	P;B	0.49922	0.626;0.076	T	0.54118	-0.8341	9	0.27785	T	0.31	.	3.86	0.08991	0.1755:0.3602:0.0:0.4643	.	1769;1794	Q02224-3;Q02224	.;CENPE_HUMAN	T	1794;1794;1769	ENSP00000265148:R1794T;ENSP00000369365:R1769T	ENSP00000265148:R1794T	R	-	2	0	CENPE	104282438	0.000000	0.05858	0.000000	0.03702	0.994000	0.84299	-0.009000	0.12765	-0.436000	0.07254	0.637000	0.83480	AGA		PASS	0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	42	15	42	---	---	---	---
LEF1	51176	broad.mit.edu	37	4	108999527	108999527	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:108999527T>C	ENST00000265165.1	-	8	1511	c.857A>G	c.(856-858)cAt>cGt	p.H286R	LEF1_ENST00000510624.1_Missense_Mutation_p.H190R|LEF1_ENST00000438313.2_Missense_Mutation_p.H258R|LEF1_ENST00000379951.2_Missense_Mutation_p.H258R|LEF1_ENST00000503879.1_5'Flank	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	286					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H190R(1)|p.H286R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCTCTGTTCATGCTGAGGCTT	0.478																																						uc003hyt.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(856-858)CAT>CGT		lymphoid enhancer-binding factor 1 isoform 1							206.0	210.0	209.0					4																	108999527		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108999527T>C		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.857A>G	4.37:g.108999527T>C	ENSP00000265165:p.His286Arg					LEF1_uc011cfj.1_Missense_Mutation_p.H143R|LEF1_uc011cfk.1_Missense_Mutation_p.H190R|LEF1_uc003hyu.1_Missense_Mutation_p.H258R|LEF1_uc003hyv.1_Missense_Mutation_p.H258R|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA	p.H286R	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	8	1512	-			286					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.857A>G	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464039	0.43736	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99158	-5.5;-5.46;-5.47;-5.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	N	0.24115	0.695	0.80722	D	1	P;B;D;B;B	0.53462	0.932;0.18;0.96;0.03;0.004	P;B;D;B;B	0.66979	0.84;0.035;0.948;0.062;0.007	D	0.98593	1.0655	10	0.26408	T	0.33	-14.7905	15.9958	0.80243	0.0:0.0:0.0:1.0	.	190;143;258;258;286	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	R	286;258;258;190	ENSP00000265165:H286R;ENSP00000369284:H258R;ENSP00000406176:H258R;ENSP00000422840:H190R	ENSP00000265165:H286R	H	-	2	0	LEF1	109218976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.188000	0.69820	0.533000	0.62120	CAT		PASS	0.478	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			32	133	32	133	---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110447381	110447381	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:110447381G>T	ENST00000265175.5	+	17	2846		c.e17-1		SEC24B_ENST00000504968.2_Splice_Site|SEC24B_ENST00000399100.2_Splice_Site	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTCCTTTTTAGGTCTTTCAAT	0.338																																						uc003hzk.2																			2	Unknown(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.e17-1		SEC24 (S. cerevisiae) homolog B isoform a							169.0	153.0	158.0					4																	110447381		1836	4089	5925	SO:0001630	splice_region_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110447381G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2792-1G>T	4.37:g.110447381G>T						SEC24B_uc003hzl.2_Splice_Site_p.G896_splice|SEC24B_uc011cfp.1_Splice_Site_p.G961_splice|SEC24B_uc011cfq.1_Splice_Site_p.G930_splice|SEC24B_uc011cfr.1_Splice_Site_p.G895_splice	p.G931_splice	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	17	2847	+		Hepatocellular(203;0.217)						B7ZKM8|B7ZKN4|Q0VG08	Splice_Site	SNP	ENST00000265175.5	37	c.2792_splice	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584305	0.86748	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4736	0.94973	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24B	110666830	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.869000	0.99810	2.596000	0.87737	0.591000	0.81541	.		PASS	0.338	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		Intron	8	121	8	121	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113524748	113524748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:113524748C>A	ENST00000505019.1	-	10	3033	c.2908G>T	c.(2908-2910)Gag>Tag	p.E970*	C4orf21_ENST00000309071.5_Nonsense_Mutation_p.E970*	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		970						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E970*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTTCATACTCAGTGCTATCT	0.403																																						uc003iau.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(2908-2910)GAG>TAG		prematurely terminated mRNA decay factor-like							202.0	164.0	177.0					4																	113524748		2203	4300	6503	SO:0001587	stop_gained	55345					integral to membrane	zinc ion binding	g.chr4:113524748C>A																												ENST00000505019.1:c.2908G>T	4.37:g.113524748C>A	ENSP00000424737:p.Glu970*					C4orf21_uc003iaw.2_Nonsense_Mutation_p.E970*	p.E970*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3119	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37	c.2908G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.749131	0.97809	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	.	.	.	5.38	2.66	0.31614	.	0.939016	0.08856	N	0.883778	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	1.214	6.1626	0.20372	0.0:0.6788:0.1533:0.1679	.	.	.	.	X	970	.	ENSP00000309095:E970X	E	-	1	0	C4orf21	113744197	0.001000	0.12720	0.000000	0.03702	0.102000	0.19082	1.171000	0.31896	0.227000	0.20999	-0.266000	0.10368	GAG		PASS	0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	57	6	57	---	---	---	---
PDE5A	8654	broad.mit.edu	37	4	120488293	120488293	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:120488293C>A	ENST00000354960.3	-	4	1157	c.838G>T	c.(838-840)Ggt>Tgt	p.G280C	SNORA11_ENST00000408318.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.G238C|PDE5A_ENST00000394439.1_Missense_Mutation_p.G228C	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	280	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.G280C(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TGGGCTACACCAACAACCTGG	0.358																																						uc003idh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)GGT>TGT		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						135.0	124.0	127.0					4																	120488293		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120488293C>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.838G>T	4.37:g.120488293C>A	ENSP00000347046:p.Gly280Cys					PDE5A_uc003idf.2_Missense_Mutation_p.G238C|PDE5A_uc003idg.2_Missense_Mutation_p.G228C	p.G280C	NM_001083	NP_001074	O76074	PDE5A_HUMAN			4	993	-			280			GAF 1.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.838G>T	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467234	0.84533	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.92699	-3.09;-3.09;-3.09	5.64	5.64	0.86602	GAF (2);	0.232987	0.44097	D	0.000500	D	0.97511	0.9185	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98294	1.0515	10	0.87932	D	0	.	19.3272	0.94267	0.0:1.0:0.0:0.0	.	280;238	O76074;O76074-2	PDE5A_HUMAN;.	C	280;228;238	ENSP00000347046:G280C;ENSP00000377957:G228C;ENSP00000264805:G238C	ENSP00000264805:G238C	G	-	1	0	PDE5A	120707741	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.536000	0.73842	2.667000	0.90743	0.655000	0.94253	GGT		PASS	0.358	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		6	68	6	68	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247367	153247367	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:153247367G>T	ENST00000281708.4	-	10	2664	c.1435C>A	c.(1435-1437)Cga>Aga	p.R479R	FBXW7_ENST00000603841.1_Silent_p.R479R|FBXW7_ENST00000296555.5_Silent_p.R361R|FBXW7_ENST00000393956.3_Silent_p.R303R|FBXW7_ENST00000603548.1_Silent_p.R479R|FBXW7_ENST00000263981.5_Silent_p.R399R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		18	Substitution - Nonsense(9)|Substitution - coding silent(5)|Substitution - Missense(3)|Unknown(1)	p.R479Q(31)|p.R479L(6)|p.R479G(3)	lung(10)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1435-1437)CGA>AGA		F-box and WD repeat domain containing 7 isoform							83.0	78.0	79.0					4																	153247367		2203	4299	6502	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247367G>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1435C>A	4.37:g.153247367G>T						FBXW7_uc011cii.1_Silent_p.R479R|FBXW7_uc003imt.2_Silent_p.R479R|FBXW7_uc011cih.1_Silent_p.R303R|FBXW7_uc003imq.2_Silent_p.R399R|FBXW7_uc003imr.2_Silent_p.R361R	p.R479R	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1584	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479			WD 3.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1435C>A	CCDS3777.1																																																																																				PASS	0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	50	5	50	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162307405	162307405	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:162307405C>A	ENST00000306100.5	-	16	2474	c.2038G>T	c.(2038-2040)Gac>Tac	p.D680Y	FSTL5_ENST00000536695.1_Missense_Mutation_p.D679Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.D670Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.D679Y|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	680						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D680Y(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTACACCGTCCACCATGACC	0.498																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2038-2040)GAC>TAC		follistatin-like 5 isoform a							122.0	110.0	114.0					4																	162307405		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307405C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2038G>T	4.37:g.162307405C>A	ENSP00000305334:p.Asp680Tyr					FSTL5_uc003iqi.2_Missense_Mutation_p.D679Y|FSTL5_uc010iqv.2_Missense_Mutation_p.D670Y|uc010iqu.1_RNA	p.D680Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2474	-	all_hematologic(180;0.24)		680					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2038G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915887	0.52546	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);	0.138959	0.64402	D	0.000006	T	0.60919	0.2306	M	0.82823	2.61	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.968;0.994;0.977	T	0.66404	-0.5932	10	0.87932	D	0	.	18.213	0.89877	0.0:1.0:0.0:0.0	.	670;679;680	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	680;679;670;679	ENSP00000305334:D680Y;ENSP00000368462:D679Y;ENSP00000389270:D670Y;ENSP00000440409:D679Y	ENSP00000305334:D680Y	D	-	1	0	FSTL5	162526855	1.000000	0.71417	0.907000	0.35723	0.512000	0.34134	5.546000	0.67243	2.545000	0.85829	0.563000	0.77884	GAC		PASS	0.498	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		6	29	6	29	---	---	---	---
CDKN2AIP	55602	broad.mit.edu	37	4	184367326	184367326	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:184367326C>A	ENST00000504169.1	+	3	696	c.489C>A	c.(487-489)gcC>gcA	p.A163A	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	163					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.A163A(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACCTCTGCCAAGACAGAAC	0.453																																						uc003ivp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)GCC>GCA		CDKN2A interacting protein							92.0	91.0	91.0					4																	184367326		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367326C>A	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.489C>A	4.37:g.184367326C>A						CDKN2AIP_uc003ivq.1_5'UTR	p.A163A	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	651	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	163					Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.489C>A	CCDS34110.1																																																																																				PASS	0.453	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		6	57	6	57	---	---	---	---
RWDD4	201965	broad.mit.edu	37	4	184570716	184570716	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:184570716C>A	ENST00000326397.5	-	5	641	c.369G>T	c.(367-369)tcG>tcT	p.S123S	RWDD4_ENST00000327570.9_Silent_p.S123S|RWDD4_ENST00000512740.1_Silent_p.S60S|RWDD4_ENST00000510968.1_Silent_p.S28S	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	123								p.S123S(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TATTGCTTATCGATGTCTAAA	0.333																																						uc003ivt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)TCG>TCT		RWD domain containing 4A							122.0	119.0	120.0					4																	184570716		2202	4299	6501	SO:0001819	synonymous_variant	201965							g.chr4:184570716C>A	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.369G>T	4.37:g.184570716C>A						RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Silent_p.S60S|RWDD4A_uc011ckl.1_RNA	p.S123S	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN		all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)	5	595	-		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	123					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Silent	SNP	ENST00000326397.5	37	c.369G>T	CCDS34111.1																																																																																				PASS	0.333	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		6	99	6	99	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539950	187539950	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:187539950C>A	ENST00000441802.2	-	10	7999	c.7790G>T	c.(7789-7791)cGa>cTa	p.R2597L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2597	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2597L(1)|p.R2600L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTGGTTGCTCGAAATTGTGG	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7789-7791)CGA>CTA		FAT tumor suppressor 1 precursor							57.0	55.0	55.0					4																	187539950		1985	4153	6138	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539950C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7790G>T	4.37:g.187539950C>A	ENSP00000406229:p.Arg2597Leu	HNSCC(5;0.00058)					p.R2597L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7978	-			2597			Extracellular (Potential).|Cadherin 24.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7790G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802756	0.16397	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01665	4.7	5.07	5.07	0.68467	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.56463	-0.7975	10	0.27082	T	0.32	.	19.0071	0.92856	0.0:1.0:0.0:0.0	.	2597	Q14517	FAT1_HUMAN	L	2597;2599	ENSP00000406229:R2597L	ENSP00000260147:R2599L	R	-	2	0	FAT1	187776944	1.000000	0.71417	0.386000	0.26170	0.007000	0.05969	4.625000	0.61262	2.793000	0.96121	0.563000	0.77884	CGA		PASS	0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		4	27	4	27	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541593	187541593	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr4:187541593C>A	ENST00000441802.2	-	10	6356	c.6147G>T	c.(6145-6147)gtG>gtT	p.V2049V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2049	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2049V(1)|p.V2052V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCTACAACCACATCAAACG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6145-6147)GTG>GTT		FAT tumor suppressor 1 precursor							170.0	168.0	168.0					4																	187541593		1977	4145	6122	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541593C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6147G>T	4.37:g.187541593C>A		HNSCC(5;0.00058)					p.V2049V	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6335	-			2049			Extracellular (Potential).|Cadherin 18.			Silent	SNP	ENST00000441802.2	37	c.6147G>T	CCDS47177.1																																																																																				PASS	0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	108	7	108	---	---	---	---
C5orf49	134121	broad.mit.edu	37	5	7832092	7832092	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:7832092G>T	ENST00000399810.2	-	3	783	c.315C>A	c.(313-315)cgC>cgA	p.R105R	C5orf49_ENST00000509627.1_Silent_p.R103R	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	105								p.R105R(1)		large_intestine(3)|lung(5)|skin(1)	9						GCTGATTGATGCGCTTCCCAT	0.542																																						uc003jea.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CGC>CGA		hypothetical protein LOC134121							157.0	164.0	162.0					5																	7832092		2041	4184	6225	SO:0001819	synonymous_variant	134121							g.chr5:7832092G>T		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.315C>A	5.37:g.7832092G>T							p.R105R	NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN			3	445	-			105						Silent	SNP	ENST00000399810.2	37	c.315C>A	CCDS43300.1																																																																																				PASS	0.542	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		17	52	17	52	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24505300	24505301	+	Missense_Mutation	DNP	AT	AT	CA			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:24505300_24505301AT>CA	ENST00000264463.4	-	8	1820_1821	c.1313_1314AT>TG	c.(1312-1314)aAT>aTG	p.N438M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N438M(1)|p.N438I(1)|p.N438K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAGAGATCCATTTCCTGAATG	0.356										HNSCC(23;0.051)																												uc003jgr.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)|pancreas(4)|breast(2)	12						c.(1312-1314)AAT>AAG|c.(1312-1314)AAT>ATT		cadherin 10, type 2 preproprotein																																				SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505300A>C|g.chr5:24505301T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1313_1314delinsCA	5.37:g.24505300_24505301delinsCA	ENSP00000264463:p.Asn438Met	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.N438K|p.N438I	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1646|1645	-			438			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1314T>G|c.1313A>T	CCDS3892.1																																																																																				PASS	0.356	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	50|49	8	49	---	---	---	---
TTC23L	153657	broad.mit.edu	37	5	34850335	34850335	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:34850335C>A	ENST00000505624.1	+	4	404	c.301C>A	c.(301-303)Cgg>Agg	p.R101R	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	101								p.R101R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						CATCCTTTCTCGGATTATTTT	0.453																																						uc003jiu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(301-303)CGG>AGG		tetratricopeptide repeat domain 23-like							207.0	206.0	206.0					5																	34850335		1933	4139	6072	SO:0001819	synonymous_variant	153657						binding	g.chr5:34850335C>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.301C>A	5.37:g.34850335C>A							p.R101R	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			4	404	+			101					Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	c.301C>A	CCDS54840.1																																																																																				PASS	0.453	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		6	126	6	126	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43508755	43508755	+	Missense_Mutation	SNP	C	C	A	rs532460770		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:43508755C>A	ENST00000306862.2	-	3	584	c.209G>T	c.(208-210)cGa>cTa	p.R70L	RP11-159F24.6_ENST00000512498.1_RNA|RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	70								p.R70L(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ATCTAGGGCTCGCTGTAGTTG	0.294																																						uc003jnz.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(208-210)CGA>CTA		hypothetical protein LOC375444							76.0	91.0	86.0					5																	43508755		2202	4300	6502	SO:0001583	missense	375444							g.chr5:43508755C>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.209G>T	5.37:g.43508755C>A	ENSP00000303490:p.Arg70Leu					C5orf34_uc011cpx.1_5'UTR	p.R70L	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			4	526	-	Lung NSC(6;2.07e-05)		70						Missense_Mutation	SNP	ENST00000306862.2	37	c.209G>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186648	0.78789	.	.	ENSG00000172244	ENST00000306862	T	0.45668	0.89	5.35	4.47	0.54385	.	0.242632	0.35291	N	0.003303	T	0.61999	0.2392	M	0.73962	2.25	0.38853	D	0.956319	D	0.76494	0.999	D	0.70935	0.971	T	0.67914	-0.5547	10	0.72032	D	0.01	-7.8715	12.7363	0.57225	0.0:0.9219:0.0:0.0781	.	70	Q96MH7	CE034_HUMAN	L	70	ENSP00000303490:R70L	ENSP00000303490:R70L	R	-	2	0	C5orf34	43544512	0.998000	0.40836	1.000000	0.80357	0.942000	0.58702	0.564000	0.23563	2.507000	0.84556	0.655000	0.94253	CGA		PASS	0.294	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		5	129	5	129	---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60194165	60194165	+	Missense_Mutation	SNP	G	G	T	rs141137570		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:60194165G>T	ENST00000265038.5	-	9	823	c.781C>A	c.(781-783)Ctc>Atc	p.L261I	ERCC8_ENST00000426742.2_Missense_Mutation_p.L203I|ERCC8_ENST00000543101.1_Missense_Mutation_p.L108I|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	261					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)	p.L261I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CCAACAGTGAGGAGGTGAAGT	0.343																																						uc003jsm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)CTC>ATC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							100.0	96.0	97.0					5																	60194165		2203	4300	6503	SO:0001583	missense	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60194165G>T	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.781C>A	5.37:g.60194165G>T	ENSP00000265038:p.Leu261Ile					ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.L203I|ERCC8_uc011cqp.1_Missense_Mutation_p.L108I	p.L261I	NM_000082	NP_000073	Q13216	ERCC8_HUMAN			9	851	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	261			WD 4.		B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	ENST00000265038.5	37	c.781C>A	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323678	0.41096	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	T;T;T	0.60171	0.21;0.21;0.21	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.50616	0.1626	N	0.14661	0.345	0.52099	D	0.999941	P;B	0.49253	0.921;0.224	P;B	0.58520	0.84;0.172	T	0.41945	-0.9480	10	0.12103	T	0.63	-14.4127	10.1746	0.42931	0.1558:0.0:0.8442:0.0	.	108;261	B4DGZ9;Q13216	.;ERCC8_HUMAN	I	203;261;108;260	ENSP00000400110:L203I;ENSP00000265038:L261I;ENSP00000441732:L108I	ENSP00000265038:L261I	L	-	1	0	ERCC8	60229922	1.000000	0.71417	0.990000	0.47175	0.845000	0.48019	3.543000	0.53633	2.303000	0.77524	0.655000	0.94253	CTC		PASS	0.343	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		6	62	6	62	---	---	---	---
SLC30A5	64924	broad.mit.edu	37	5	68400543	68400543	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:68400543G>T	ENST00000396591.3	+	4	969	c.359G>T	c.(358-360)aGg>aTg	p.R120M	SLC30A5_ENST00000380860.4_3'UTR	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	120					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R120M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GGACCACTAAGGTAAATAAAA	0.299																																						uc003jvh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(358-360)AGG>ATG		solute carrier family 30 (zinc transporter),							125.0	125.0	125.0					5																	68400543		2203	4299	6502	SO:0001630	splice_region_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68400543G>T	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.359+1G>T	5.37:g.68400543G>T						SLC30A5_uc003jvg.2_3'UTR|SLC30A5_uc011crc.1_RNA|SLC30A5_uc003jvi.2_Intron	p.R120M	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	4	560	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	120			Extracellular (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.359G>T	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133418	0.94517	.	.	ENSG00000145740	ENST00000396591	T	0.70986	-0.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.84265	0.0485	10	0.87932	D	0	4.0057	19.544	0.95284	0.0:0.0:1.0:0.0	.	120	Q8TAD4	ZNT5_HUMAN	M	120	ENSP00000379836:R120M	ENSP00000379836:R120M	R	+	2	0	SLC30A5	68436299	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.286000	0.95898	2.706000	0.92434	0.655000	0.94253	AGG		PASS	0.299	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		Missense_Mutation	8	136	8	136	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70757682	70757682	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:70757682G>C	ENST00000358731.4	+	3	791	c.528G>C	c.(526-528)caG>caC	p.Q176H	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	176	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q176H(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGAAAGTCAGAGGCCACCAG	0.279																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(526-528)CAG>CAC		transcription factor-like nuclear regulator							80.0	85.0	83.0					5																	70757682		1888	4119	6007	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70757682G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.528G>C	5.37:g.70757682G>C	ENSP00000351575:p.Gln176His					BDP1_uc003kbn.1_Missense_Mutation_p.Q176H|BDP1_uc003kbo.2_Missense_Mutation_p.Q176H	p.Q176H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	3	791	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	176			Interaction with ZBTB43.|Potential.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.528G>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380029	0.61845	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.23950	1.88	5.34	4.23	0.50019	.	0.384181	0.27941	N	0.017236	T	0.42200	0.1192	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.998	D;D;D	0.85130	0.976;0.997;0.955	T	0.37244	-0.9714	10	0.62326	D	0.03	.	4.3543	0.11170	0.1284:0.0:0.5145:0.357	.	176;176;176	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	H	176	ENSP00000351575:Q176H	ENSP00000351575:Q176H	Q	+	3	2	BDP1	70793438	0.172000	0.23043	0.990000	0.47175	0.992000	0.81027	0.564000	0.23563	2.651000	0.90000	0.557000	0.71058	CAG		PASS	0.279	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	120	4	120	---	---	---	---
POLK	51426	broad.mit.edu	37	5	74892392	74892392	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:74892392C>A	ENST00000241436.4	+	13	2046	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.P535H|POLK_ENST00000508526.1_Missense_Mutation_p.P427H|POLK_ENST00000352007.5_Missense_Mutation_p.P427H|CTC-366B18.2_ENST00000511329.1_RNA	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	625					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.P625H(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTACCTGTCCTGTTTGCTTT	0.373								DNA polymerases (catalytic subunits)																														uc003kdw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)	4						c.(1873-1875)CCT>CAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							133.0	132.0	133.0					5																	74892392		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892392C>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1874C>A	5.37:g.74892392C>A	ENSP00000241436:p.Pro625His					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.P427H|POLK_uc003kec.2_Missense_Mutation_p.P535H|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.P535H	p.P625H	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1970	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	625			UBZ-type 1.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1874C>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490787	0.84962	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;D;D;T	0.85629	-0.94;-2.01;-2.01;-0.87	5.47	5.47	0.80525	Zinc finger, Rad18-type putative (1);	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	M	0.76838	2.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93262	0.6644	10	0.87932	D	0	-15.7075	19.34	0.94337	0.0:1.0:0.0:0.0	.	427;625	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	H	625;427;427;535	ENSP00000241436:P625H;ENSP00000342256:P427H;ENSP00000426853:P427H;ENSP00000369848:P535H	ENSP00000241436:P625H	P	+	2	0	POLK	74928148	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.806000	0.75195	2.559000	0.86315	0.655000	0.94253	CCT		PASS	0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		8	130	8	130	---	---	---	---
PDE8B	8622	broad.mit.edu	37	5	76621451	76621451	+	Silent	SNP	C	C	A	rs535530044		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:76621451C>A	ENST00000264917.5	+	3	532	c.487C>A	c.(487-489)Cgg>Agg	p.R163R	PDE8B_ENST00000333194.4_Silent_p.R163R|PDE8B_ENST00000346042.3_Silent_p.R163R|PDE8B_ENST00000342343.4_Silent_p.R143R|PDE8B_ENST00000340978.3_Silent_p.R163R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	163					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	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.R163R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CAATATTGCTCGGACTCCAGA	0.433																																						uc003kfa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)CGG>AGG		phosphodiesterase 8B isoform 1							124.0	126.0	125.0					5																	76621451		2203	4300	6503	SO:0001819	synonymous_variant	8622				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.chr5:76621451C>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.487C>A	5.37:g.76621451C>A						PDE8B_uc003kfb.2_Silent_p.R143R|PDE8B_uc003kfc.2_Silent_p.R163R|PDE8B_uc003kfd.2_Silent_p.R163R|PDE8B_uc003kfe.2_Silent_p.R163R	p.R163R	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	3	532	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	163					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.487C>A	CCDS4037.1																																																																																				PASS	0.433	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		5	91	5	91	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79335928	79335928	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:79335928G>T	ENST00000350881.2	+	2	307	c.117G>T	c.(115-117)caG>caT	p.Q39H	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	39	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Q39H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CTTCCAGTCAGAGGCTAAACC	0.483																																						uc003kgh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CAG>CAT		thrombospondin 4 precursor							81.0	83.0	83.0					5																	79335928		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79335928G>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.117G>T	5.37:g.79335928G>T	ENSP00000339730:p.Gln39His						p.Q39H	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	3	440	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	39			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.117G>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862380	0.17178	.	.	ENSG00000113296	ENST00000350881	T	0.02103	4.45	5.13	2.71	0.32032	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.359745	0.29342	N	0.012425	T	0.03011	0.0089	L	0.51422	1.61	0.80722	D	1	P	0.37955	0.612	B	0.37833	0.259	T	0.54214	-0.8327	10	0.52906	T	0.07	-9.6341	9.3154	0.37930	0.2894:0.0:0.7106:0.0	.	39	P35443	TSP4_HUMAN	H	39	ENSP00000339730:Q39H	ENSP00000339730:Q39H	Q	+	3	2	THBS4	79371684	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	1.782000	0.38654	0.988000	0.38734	0.453000	0.30009	CAG		PASS	0.483	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			7	103	7	103	---	---	---	---
SPZ1	84654	broad.mit.edu	37	5	79617057	79617057	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:79617057C>A	ENST00000296739.4	+	1	1268	c.1023C>A	c.(1021-1023)ctC>ctA	p.L341L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	341					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L341L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCAAGGAACTCCATCATCAGA	0.398																																						uc003kgn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1021-1023)CTC>CTA		spermatogenic leucine zipper 1							103.0	97.0	99.0					5																	79617057		1869	4120	5989	SO:0001819	synonymous_variant	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617057C>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1023C>A	5.37:g.79617057C>A						uc011ctk.1_RNA	p.L341L	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1268	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	341			Potential.		B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	c.1023C>A	CCDS43336.1																																																																																				PASS	0.398	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		7	78	7	78	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	80063922	80063922	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:80063922C>A	ENST00000265081.6	+	14	2147	c.2067C>A	c.(2065-2067)ctC>ctA	p.L689L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	689					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.L680L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TAAAGATACTCAATGAACAAG	0.398								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|breast(1)	4						c.(2065-2067)CTC>CTA	MMR	mutS homolog 3							100.0	102.0	102.0					5																	80063922		2203	4299	6502	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80063922C>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2067C>A	5.37:g.80063922C>A							p.L689L	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	14	2320	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	689					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.2067C>A	CCDS34195.1																																																																																				PASS	0.398	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		7	59	7	59	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82816290	82816290	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:82816290C>A	ENST00000265077.3	+	7	2730	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S722Y|VCAN_ENST00000512590.2_Missense_Mutation_p.S674Y|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	722	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S722Y(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAGTCTTCTCTGGGATGAAA	0.363																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2164-2166)TCT>TAT		versican isoform 1 precursor							68.0	70.0	70.0					5																	82816290		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816290C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2165C>A	5.37:g.82816290C>A	ENSP00000265077:p.Ser722Tyr					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S722Y|VCAN_uc003kik.3_Intron	p.S722Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2521	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	722			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2165C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016514	0.35606	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.25749	1.78;1.78;1.78	5.48	4.61	0.57282	.	0.216388	0.33235	N	0.005140	T	0.43634	0.1256	M	0.66939	2.045	0.37461	D	0.9152	D;D	0.65815	0.969;0.995	P;P	0.59761	0.863;0.816	T	0.53129	-0.8482	10	0.87932	D	0	.	11.7805	0.52010	0.0:0.9193:0.0:0.0807	.	722;722	P13611-3;P13611	.;CSPG2_HUMAN	Y	722;722;674	ENSP00000265077:S722Y;ENSP00000342768:S722Y;ENSP00000425959:S674Y	ENSP00000265077:S722Y	S	+	2	0	VCAN	82852046	0.998000	0.40836	1.000000	0.80357	0.005000	0.04900	2.834000	0.48167	1.320000	0.45209	0.655000	0.94253	TCT		PASS	0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		6	37	6	37	---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88027589	88027589	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:88027589C>A	ENST00000437473.2	-	7	1184	c.767G>T	c.(766-768)cGa>cTa	p.R256L	MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000514015.1_Missense_Mutation_p.R256L|MEF2C_ENST00000510942.1_Missense_Mutation_p.R256L|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256L|MEF2C_ENST00000504921.2_Missense_Mutation_p.R256L|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274L|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208L|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254L|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256L|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	256					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R256L(2)|p.R254L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AATAAGAACTCGGAGATCTGG	0.378										HNSCC(66;0.2)																												uc003kjj.2																			3	Substitution - Missense(3)		lung(3)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(766-768)CGA>CTA		myocyte enhancer factor 2C isoform 1							112.0	106.0	108.0					5																	88027589		1843	4083	5926	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027589C>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.767G>T	5.37:g.88027589C>A	ENSP00000396219:p.Arg256Leu	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.R256L|MEF2C_uc003kjk.2_Missense_Mutation_p.R256L|MEF2C_uc003kjm.2_Missense_Mutation_p.R254L|MEF2C_uc003kjl.2_Missense_Mutation_p.R274L	p.R256L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1440	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	256					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.767G>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751630	0.96890	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.91635	0.996;0.999;0.985;0.999	T	0.67465	-0.5664	10	0.87932	D	0	-4.0687	20.5666	0.99351	0.0:1.0:0.0:0.0	.	254;274;256;256	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	L	274;254;256;256;256;256;256;256;256;208	ENSP00000340874:R274L;ENSP00000389610:R254L;ENSP00000421925:R256L;ENSP00000426665:R256L;ENSP00000396219:R256L;ENSP00000422390:R256L;ENSP00000425636:R256L;ENSP00000423597:R256L;ENSP00000424606:R256L;ENSP00000441153:R208L	ENSP00000340874:R274L	R	-	2	0	MEF2C	88063345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	CGA		PASS	0.378	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		5	55	5	55	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90001286	90001286	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:90001286G>T	ENST00000405460.2	+	37	8552	c.8456G>T	c.(8455-8457)aGt>aTt	p.S2819I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2819	Calx-beta 20. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2819I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAGCCAGTGATGAACCA	0.413																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(8455-8457)AGT>ATT		G protein-coupled receptor 98 precursor							192.0	182.0	185.0					5																	90001286		1934	4156	6090	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90001286G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8456G>T	5.37:g.90001286G>T	ENSP00000384582:p.Ser2819Ile					GPR98_uc003kjt.2_Missense_Mutation_p.S525I|GPR98_uc003kjv.2_Missense_Mutation_p.S419I	p.S2819I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	37	8552	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2819			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8456G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.079860|5.079860	0.94050|0.94050	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.31247|.	1.5|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Na-Ca exchanger/integrin-beta4 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83487|0.83487	0.5265|0.5265	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.84040|0.84040	0.0364|0.0364	10|5	0.87932|.	D|.	0|.	.|.	20.0204|20.0204	0.97499|0.97499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2819;2819|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	I|L	2819|385	ENSP00000384582:S2819I|.	ENSP00000296619:S2819I|.	S|V	+|+	2|1	0|0	GPR98|GPR98	90037042|90037042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.248000|9.248000	0.95456|0.95456	2.729000|2.729000	0.93468|0.93468	0.650000|0.650000	0.86243|0.86243	AGT|GTG		PASS	0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	129	6	129	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95757591	95757591	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:95757591C>A	ENST00000311106.3	-	5	850	c.613G>T	c.(613-615)Gag>Tag	p.E205*	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E158*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	205	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E205*(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACTTGTTCTCGTTTGTGGGA	0.338																																						uc003kls.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(613-615)GAG>TAG		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	150.0	150.0					5																	95757591		2203	4300	6503	SO:0001587	stop_gained	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95757591C>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.613G>T	5.37:g.95757591C>A	ENSP00000308024:p.Glu205*						p.E205*	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	5	819	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	205			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Nonsense_Mutation	SNP	ENST00000311106.3	37	c.613G>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	40	8.226500	0.98714	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-25.3147	19.6917	0.96005	0.0:1.0:0.0:0.0	.	.	.	.	X	205;158	.	ENSP00000308024:E205X	E	-	1	0	PCSK1	95783347	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.252000	0.78309	2.751000	0.94390	0.650000	0.86243	GAG		PASS	0.338	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		7	161	7	161	---	---	---	---
CAST	831	broad.mit.edu	37	5	96076486	96076486	+	Splice_Site	SNP	C	C	A	rs200085642		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:96076486C>A	ENST00000341926.3	+	11	830	c.668C>A	c.(667-669)tCg>tAg	p.S223*	CAST_ENST00000395813.1_Splice_Site_p.S306*|CAST_ENST00000348386.3_Intron|CAST_ENST00000309190.5_Splice_Site_p.S201*|CAST_ENST00000509903.1_Intron|CAST_ENST00000359176.4_Splice_Site_p.S287*|CAST_ENST00000504465.1_Splice_Site_p.S151*|CAST_ENST00000508579.1_5'Flank|CAST_ENST00000511782.1_Splice_Site_p.S209*|CAST_ENST00000508608.1_Splice_Site_p.S269*|CAST_ENST00000325674.7_Intron|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000515663.1_5'Flank|CAST_ENST00000338252.3_Intron|CAST_ENST00000395812.2_Splice_Site_p.S265*|CAST_ENST00000511049.1_Splice_Site_p.S209*|CAST_ENST00000508830.1_Splice_Site_p.S306*|CAST_ENST00000510756.1_Splice_Site_p.S284*			P20810	ICAL_HUMAN	calpastatin	223					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.S201*(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCAGACTCTTCGGTGAGTTTA	0.348																																						uc003klz.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(667-669)TCG>TAG		calpastatin isoform i							78.0	83.0	81.0					5																	96076486		2203	4300	6503	SO:0001630	splice_region_variant	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96076486C>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.669+1C>A	5.37:g.96076486C>A						CAST_uc003klt.2_Intron|CAST_uc003klu.2_Nonsense_Mutation_p.S306*|CAST_uc003klv.2_Nonsense_Mutation_p.S284*|CAST_uc003klw.2_Nonsense_Mutation_p.S287*|CAST_uc003klx.2_Nonsense_Mutation_p.S265*|CAST_uc003kly.2_Intron|CAST_uc011cuo.1_Nonsense_Mutation_p.S269*|CAST_uc011cuq.1_Nonsense_Mutation_p.S71*|CAST_uc011cur.1_Nonsense_Mutation_p.S209*|CAST_uc011cus.1_Intron|CAST_uc003kma.1_Nonsense_Mutation_p.S182*|CAST_uc011cut.1_Nonsense_Mutation_p.S151*|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Nonsense_Mutation_p.S223*|CAST_uc003kmd.2_Nonsense_Mutation_p.S201*|CAST_uc003kme.2_Nonsense_Mutation_p.S182*|CAST_uc003kmf.2_Intron|CAST_uc003kmh.2_5'Flank|CAST_uc010jbj.2_5'Flank|CAST_uc010jbk.2_5'Flank|CAST_uc010jbl.1_5'Flank|CAST_uc003kmi.2_5'Flank|CAST_uc003kmj.2_5'Flank	p.S223*	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	11	830	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	223					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Nonsense_Mutation	SNP	ENST00000341926.3	37	c.668C>A		.	.	.	.	.	.	.	.	.	.	C	13.27	2.186872	0.38609	.	.	ENSG00000153113	ENST00000508830;ENST00000395813;ENST00000359176;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000511782	.	.	.	4.87	-5.62	0.02481	.	2.176640	0.01860	N	0.036532	.	.	.	.	.	.	0.23515	N	0.99751	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	11.5549	3.7048	0.08397	0.105:0.3022:0.1035:0.4893	.	.	.	.	X	306;306;287;265;287;284;269;223;209;201;223;151;209	.	ENSP00000312523:S201X	S	+	2	0	CAST	96102242	0.000000	0.05858	0.005000	0.12908	0.199000	0.23934	-2.786000	0.00770	-1.307000	0.02321	-0.797000	0.03246	TCG		PASS	0.348	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	Nonsense_Mutation	5	88	5	88	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98194017	98194017	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:98194017G>T	ENST00000284049.3	-	34	4803	c.4654C>A	c.(4654-4656)Cag>Aag	p.Q1552K		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1552					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.Q1552K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATGGTACTGAGTTAAGTGT	0.353																																						uc003knf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(4654-4656)CAG>AAG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						264.0	258.0	260.0					5																	98194017		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98194017G>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4654C>A	5.37:g.98194017G>T	ENSP00000284049:p.Gln1552Lys					CHD1_uc010jbn.2_Missense_Mutation_p.Q278K	p.Q1552K	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	34	4802	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1552					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4654C>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909824	0.33721	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89196	-2.48	5.31	5.31	0.75309	.	0.000000	0.32106	U	0.006577	D	0.84831	0.5559	L	0.36672	1.1	0.53688	D	0.999974	B	0.21905	0.062	B	0.15870	0.014	T	0.79505	-0.1776	10	0.29301	T	0.29	.	19.324	0.94254	0.0:0.0:1.0:0.0	.	1552	O14646	CHD1_HUMAN	K	142;1552	ENSP00000284049:Q1552K	ENSP00000284049:Q1552K	Q	-	1	0	CHD1	98221917	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	5.761000	0.68801	2.635000	0.89317	0.555000	0.69702	CAG		PASS	0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	114	7	114	---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102894709	102894709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:102894709C>A	ENST00000230792.2	-	3	763	c.667G>T	c.(667-669)Gga>Tga	p.G223*	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Nonsense_Mutation_p.G205*	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	223					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.G223*(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GCAACCAATCCATCTTCCTCC	0.408																																						uc003koi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(667-669)GGA>TGA		nudix-type motif 12							93.0	94.0	93.0					5																	102894709		2202	4300	6502	SO:0001587	stop_gained	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102894709C>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.667G>T	5.37:g.102894709C>A	ENSP00000230792:p.Gly223*					NUDT12_uc011cvb.1_Nonsense_Mutation_p.G205*	p.G223*	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	760	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	223					B3KUW2|Q8TAL7	Nonsense_Mutation	SNP	ENST00000230792.2	37	c.667G>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956031	0.92726	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	.	.	.	5.85	5.85	0.93711	.	0.169479	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.0709	20.1589	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	223;205	.	ENSP00000230792:G223X	G	-	1	0	NUDT12	102922608	0.999000	0.42202	0.998000	0.56505	0.603000	0.37013	3.220000	0.51207	2.769000	0.95229	0.650000	0.86243	GGA		PASS	0.408	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		6	61	6	61	---	---	---	---
FAM13B	51306	broad.mit.edu	37	5	137346823	137346823	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:137346823C>A	ENST00000033079.3	-	6	1015	c.564G>T	c.(562-564)gtG>gtT	p.V188V	FAM13B_ENST00000425075.2_Silent_p.V70V|FAM13B_ENST00000420893.2_Silent_p.V188V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	188	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V70V(1)|p.V188V(1)		endometrium(4)|kidney(2)|lung(5)	11						TCATGTCTTCCACATCTGTGT	0.343																																						uc003lbz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(562-564)GTG>GTT		hypothetical protein LOC51306 isoform 1							145.0	139.0	141.0					5																	137346823		2203	4299	6502	SO:0001819	synonymous_variant	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137346823C>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.564G>T	5.37:g.137346823C>A						FAM13B_uc003lcb.2_Silent_p.V70V|FAM13B_uc003lca.2_Silent_p.V188V	p.V188V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			6	1098	-			188			Rho-GAP.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.564G>T	CCDS4195.1																																																																																				PASS	0.343	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			7	90	7	90	---	---	---	---
KIF20A	10112	broad.mit.edu	37	5	137519972	137519972	+	Missense_Mutation	SNP	G	G	T	rs112052250		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:137519972G>T	ENST00000394894.3	+	12	1623	c.1397G>T	c.(1396-1398)cGa>cTa	p.R466L	KIF20A_ENST00000508792.1_Missense_Mutation_p.R448L	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	466	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.R466L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGTTGACTCGAGTGTTCCAA	0.493																																						uc003lcj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1396-1398)CGA>CTA		kinesin family member 20A							148.0	145.0	146.0					5																	137519972		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137519972G>T	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1397G>T	5.37:g.137519972G>T	ENSP00000378356:p.Arg466Leu					KIF20A_uc011cyo.1_Missense_Mutation_p.R448L	p.R466L	NM_005733	NP_005724	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		12	1893	+			466			Kinesin-motor.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1397G>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695403	0.88830	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.46819	0.86;0.86	5.49	5.49	0.81192	Kinesin, motor domain (4);	0.000000	0.37857	N	0.001920	T	0.70710	0.3255	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.71708	-0.4511	10	0.62326	D	0.03	-11.8708	19.5607	0.95371	0.0:0.0:1.0:0.0	.	448;466	B4DL79;O95235	.;KI20A_HUMAN	L	466;448	ENSP00000378356:R466L;ENSP00000420880:R448L	ENSP00000378356:R466L	R	+	2	0	KIF20A	137547871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.254000	0.95512	2.845000	0.97973	0.643000	0.83706	CGA		PASS	0.493	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		7	120	7	120	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139818072	139818072	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:139818072G>T	ENST00000360839.2	+	3	641	c.487G>T	c.(487-489)Ggt>Tgt	p.G163C	ANKHD1_ENST00000297183.6_Missense_Mutation_p.G163C|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G163C|ANKHD1_ENST00000394722.3_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G163C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	163						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G163C(3)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTGCTGATGGTAAAGCTTT	0.413																																						uc003lfs.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)	6						c.(487-489)GGT>TGT		ANKHD1-EIF4EBP3 protein							206.0	190.0	196.0					5																	139818072		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139818072G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.487G>T	5.37:g.139818072G>T	ENSP00000354085:p.Gly163Cys					ANKHD1_uc003lfq.1_Missense_Mutation_p.G163C|ANKHD1_uc003lfr.2_Missense_Mutation_p.G163C|ANKHD1_uc003lfp.2_Intron|ANKHD1_uc003lfo.2_Missense_Mutation_p.G163C|ANKHD1_uc010jfk.2_Missense_Mutation_p.G163C	p.G163C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	611	+			163					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.487G>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942026	0.73557	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000532219	T;T;T;T;T	0.70399	-0.45;-0.48;-0.42;-0.27;-0.48	5.43	5.43	0.79202	.	0.124589	0.53938	D	0.000057	T	0.78629	0.4313	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.97110	0.978;1.0;1.0;0.917	T	0.78526	-0.2170	10	0.46703	T	0.11	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	163;163;163;163	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.	C	163;177;163;163;163;163;163	ENSP00000354085:G163C;ENSP00000297183:G163C;ENSP00000394489:G163C;ENSP00000378212:G163C;ENSP00000432016:G163C	ENSP00000432016:G163C	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139798256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.684000	0.98659	2.549000	0.85964	0.650000	0.86243	GGT		PASS	0.413	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	135	7	135	---	---	---	---
HARS2	23438	broad.mit.edu	37	5	140073541	140073541	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:140073541C>A	ENST00000230771.3	+	3	428	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	HARS2_ENST00000432671.2_Intron|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000435019.2_Intron|HARS_ENST00000457527.2_5'Flank|HARS_ENST00000438307.2_5'Flank|HARS2_ENST00000508522.1_Missense_Mutation_p.Q44K|HARS_ENST00000431330.2_5'Flank|HARS_ENST00000415192.2_5'Flank|HARS_ENST00000448240.1_5'Flank|HARS2_ENST00000437649.2_Missense_Mutation_p.Q69K|HARS_ENST00000504156.1_5'Flank|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000448069.2_Intron	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	69					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.Q69K(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTAGTCCTCAGCATATGGT	0.413																																						uc003lgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)CAG>AAG		histidyl-tRNA synthetase 2 precursor							195.0	201.0	199.0					5																	140073541		2203	4300	6503	SO:0001583	missense	23438				histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	g.chr5:140073541C>A	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.205C>A	5.37:g.140073541C>A	ENSP00000230771:p.Gln69Lys					HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_5'UTR|HARS2_uc011czr.1_Missense_Mutation_p.Q44K|HARS2_uc011czs.1_5'UTR|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank	p.Q69K	NM_012208	NP_036340	P49590	SYHM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	421	+			69					B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	c.205C>A	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	c	9.996	1.232217	0.22626	.	.	ENSG00000112855	ENST00000230771;ENST00000509299;ENST00000503873;ENST00000437649;ENST00000508522	T;T;T;T;T	0.61980	1.04;1.64;1.64;0.06;1.04	6.04	4.24	0.50183	Aminoacyl-tRNA synthetase, class II (1);	0.111469	0.64402	D	0.000012	T	0.44414	0.1292	L	0.33189	0.99	0.23430	N	0.997693	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.26224	-1.0109	10	0.06891	T	0.86	-3.0379	9.4657	0.38811	0.2562:0.5271:0.2167:0.0	.	44;69	B4DDY8;P49590	.;SYHM_HUMAN	K	69;75;75;69;44	ENSP00000230771:Q69K;ENSP00000425695:Q75K;ENSP00000424516:Q75K;ENSP00000411708:Q69K;ENSP00000423616:Q44K	ENSP00000230771:Q69K	Q	+	1	0	HARS2	140053725	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	2.860000	0.48372	0.857000	0.35407	0.563000	0.77884	CAG		PASS	0.413	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		10	181	10	181	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180986	140180986	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:140180986C>A	ENST00000522353.2	+	1	204	c.204C>A	c.(202-204)tcC>tcA	p.S68S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S68S	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S68S(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCGTCCAAAAGACACG	0.622																																						uc003lhf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(2)	8						c.(202-204)TCC>TCA		protocadherin alpha 3 isoform 1 precursor							65.0	79.0	74.0					5																	140180986		2202	4285	6487	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180986C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.204C>A	5.37:g.140180986C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S68S	p.S68S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	204	+			68			Cadherin 1.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.204C>A	CCDS54915.1																																																																																				PASS	0.622	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	62	6	62	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604377	140604377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:140604377G>T	ENST00000239449.4	+	1	1300	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.E281*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E434*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGTACAACAT	0.537																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1300-1302)GAG>TAG		protocadherin beta 14 precursor							147.0	141.0	143.0					5																	140604377		2203	4300	6503	SO:0001587	stop_gained	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604377G>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1300G>T	5.37:g.140604377G>T	ENSP00000239449:p.Glu434*					PCDHB14_uc011dal.1_Nonsense_Mutation_p.E281*	p.E434*	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1300	+			434			Cadherin 4.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	ENST00000239449.4	37	c.1300G>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	6.187	0.402633	0.11696	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	.	.	.	4.5	-5.99	0.02213	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.4938	0.50396	0.1474:0.1186:0.6637:0.0703	.	.	.	.	X	281;434	.	ENSP00000239449:E434X	E	+	1	0	PCDHB14	140584561	0.000000	0.05858	0.023000	0.16930	0.012000	0.07955	-3.627000	0.00410	-0.863000	0.04084	-0.314000	0.08810	GAG		PASS	0.537	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		6	64	6	64	---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159841435	159841435	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:159841435C>A	ENST00000297151.4	-	3	602	c.215G>T	c.(214-216)tGg>tTg	p.W72L		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	72					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.W72L(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAATATACCATGGCACTGA	0.338																																						uc003lyg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)TGG>TTG		step II splicing factor SLU7							204.0	202.0	203.0					5																	159841435		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159841435C>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.215G>T	5.37:g.159841435C>A	ENSP00000297151:p.Trp72Leu					SLU7_uc003lyh.1_Missense_Mutation_p.W72L|SLU7_uc003lyi.1_Missense_Mutation_p.W72L	p.W72L	NM_006425	NP_006416	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	370	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	72					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.215G>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372155	0.61624	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.60672	0.52;0.17;0.3	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.88842	2.985	0.80722	D	1	B	0.28552	0.215	B	0.31101	0.124	T	0.70659	-0.4811	10	0.87932	D	0	-25.9745	20.6634	0.99662	0.0:1.0:0.0:0.0	.	72	O95391	SLU7_HUMAN	L	72	ENSP00000297151:W72L;ENSP00000428943:W72L;ENSP00000429990:W72L	ENSP00000297151:W72L	W	-	2	0	SLU7	159774013	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.433000	0.80362	2.894000	0.99253	0.655000	0.94253	TGG		PASS	0.338	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		7	128	7	128	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161281215	161281215	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:161281215C>T	ENST00000428797.2	+	4	481	c.126C>T	c.(124-126)ttC>ttT	p.F42F	GABRA1_ENST00000023897.6_Silent_p.F42F|GABRA1_ENST00000420560.1_Silent_p.F42F|GABRA1_ENST00000393943.4_Silent_p.F42F|GABRA1_ENST00000437025.2_Silent_p.F42F|GABRA1_ENST00000444819.1_Silent_p.F42F	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	42					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F42F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCACTGTCTTCACCAGGATTT	0.358																																						uc010jiw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(124-126)TTC>TTT		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						107.0	111.0	109.0					5																	161281215		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161281215C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.126C>T	5.37:g.161281215C>T						GABRA1_uc010jix.2_Silent_p.F42F|GABRA1_uc010jiy.2_Silent_p.F42F|GABRA1_uc003lyx.3_Silent_p.F42F|GABRA1_uc010jiz.2_Silent_p.F42F|GABRA1_uc010jja.2_Silent_p.F42F|GABRA1_uc010jjb.2_Silent_p.F42F	p.F42F	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	4	594	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	42			Extracellular (Probable).		D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.126C>T	CCDS4357.1																																																																																				PASS	0.358	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		27	71	27	71	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167630837	167630837	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:167630837G>T	ENST00000518659.1	+	18	3613	c.3574G>T	c.(3574-3576)Gga>Tga	p.G1192*	TENM2_ENST00000403607.2_Splice_Site_p.G1016*|TENM2_ENST00000520394.1_Splice_Site_p.G960*|TENM2_ENST00000519204.1_Splice_Site_p.G1071*|TENM2_ENST00000545108.1_Splice_Site_p.G1192*	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1192					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.G1025*(1)|p.G1192*(1)|p.G1071*(1)									TGTTAAAAGTGGTACGTGAAC	0.517																																						uc010jjd.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(3547-3549)GGA>TGA		odz, odd Oz/ten-m homolog 2							176.0	169.0	171.0					5																	167630837		1940	4152	6092	SO:0001630	splice_region_variant	57451							g.chr5:167630837G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3574+1G>T	5.37:g.167630837G>T						ODZ2_uc003lzr.3_Nonsense_Mutation_p.G960*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.G556*|ODZ2_uc010jje.2_Nonsense_Mutation_p.G454*	p.G1183*	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	18	3547	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37	c.3547G>T		.	.	.	.	.	.	.	.	.	.	g	42	9.446644	0.99174	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.809	0.92050	0.0:0.0:1.0:0.0	.	.	.	.	X	1192;1192;1071;960;1016	.	ENSP00000384905:G1016X	G	+	1	0	ODZ2	167563415	1.000000	0.71417	0.992000	0.48379	0.734000	0.41952	9.810000	0.99221	2.499000	0.84300	0.645000	0.84053	GGA		PASS	0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	Nonsense_Mutation	7	109	7	109	---	---	---	---
DRD1	1812	broad.mit.edu	37	5	174869505	174869505	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:174869505C>A	ENST00000393752.2	-	2	1590	c.598G>T	c.(598-600)Gta>Tta	p.V200L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	200					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V200L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AAGCTTATTACAGAGGATGAG	0.498																																						uc003mcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(598-600)GTA>TTA		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						166.0	157.0	160.0					5																	174869505		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869505C>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.598G>T	5.37:g.174869505C>A	ENSP00000377353:p.Val200Leu						p.V200L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1543	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	200			Helical; Name=5; (Potential).		B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.598G>T	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.603498	0.00849	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.71341	-0.56	5.54	0.519	0.17035	GPCR, rhodopsin-like superfamily (1);	0.203854	0.43110	N	0.000601	T	0.23886	0.0578	N	0.00246	-1.78	0.29303	N	0.868528	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	10	0.02654	T	1	.	5.5002	0.16825	0.2862:0.293:0.4208:0.0	.	200	P21728	DRD1_HUMAN	L	200	ENSP00000377353:V200L	ENSP00000327652:V200L	V	-	1	0	DRD1	174802111	1.000000	0.71417	0.300000	0.25030	0.456000	0.32438	1.916000	0.39986	0.076000	0.16826	-0.219000	0.12488	GTA		PASS	0.498	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		6	98	6	98	---	---	---	---
F12	2161	broad.mit.edu	37	5	176830259	176830259	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:176830259G>T	ENST00000253496.3	-	12	1575	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	PFN3_ENST00000358571.2_5'Flank|F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	509	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.F509L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GCCTACCCTCGAACTGGTGGC	0.667									Hereditary Angioedema																													uc003mgo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1525-1527)TTC>TTA		coagulation factor XII precursor							33.0	38.0	36.0					5																	176830259		2196	4287	6483	SO:0001583	missense	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830259G>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1527C>A	5.37:g.176830259G>T	ENSP00000253496:p.Phe509Leu					PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Nonsense_Mutation_p.S40*|F12_uc003mgn.3_Nonsense_Mutation_p.S40*|F12_uc010jkl.2_RNA	p.F509L	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1576	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	509			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1527C>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440691	0.25900	.	.	ENSG00000131187	ENST00000253496	D	0.88664	-2.41	4.87	-3.23	0.05109	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.445095	0.19203	N	0.120140	T	0.65407	0.2688	N	0.01410	-0.885	0.80722	D	1	P	0.48834	0.916	P	0.45474	0.482	T	0.64791	-0.6324	10	0.11794	T	0.64	.	5.8569	0.18724	0.5988:0.0:0.2525:0.1487	.	509	P00748	FA12_HUMAN	L	509	ENSP00000253496:F509L	ENSP00000253496:F509L	F	-	3	2	F12	176762865	0.017000	0.18338	0.870000	0.34147	0.553000	0.35397	-0.539000	0.06113	-0.536000	0.06298	-0.258000	0.10820	TTC		PASS	0.667	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			4	32	4	32	---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177715338	177715338	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr5:177715338C>A	ENST00000390654.3	-	5	785	c.428G>T	c.(427-429)cGa>cTa	p.R143L	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	143	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R143L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GTAGCCATCTCGTCCTGATTG	0.418																																						uc003mje.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(427-429)CGA>CTA		collagen, type XXIII, alpha 1							150.0	148.0	148.0					5																	177715338		1878	4116	5994	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177715338C>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.428G>T	5.37:g.177715338C>A	ENSP00000375069:p.Arg143Leu						p.R143L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	5	786	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	143			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.428G>T	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609910	0.14066	.	.	ENSG00000050767	ENST00000390654	D	0.94376	-3.41	5.59	4.73	0.59995	.	0.308460	0.20082	N	0.099630	D	0.91188	0.7224	N	0.05608	-0.01	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.89127	0.3507	10	0.29301	T	0.29	-0.5113	10.7192	0.46030	0.0:0.9122:0.0:0.0878	.	143	Q86Y22	CONA1_HUMAN	L	143	ENSP00000375069:R143L	ENSP00000375069:R143L	R	-	2	0	COL23A1	177647944	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	2.451000	0.44952	1.365000	0.46057	-0.126000	0.14955	CGA		PASS	0.418	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		5	108	5	108	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	562806	562806	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:562806T>A	ENST00000230449.4	-	17	1964	c.1829A>T	c.(1828-1830)gAc>gTc	p.D610V	EXOC2_ENST00000448181.3_Missense_Mutation_p.D205V	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	610					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D610V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCCTTCATTGTCAACAATCCA	0.259																																						uc003mtd.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(1828-1830)GAC>GTC		Sec5 protein							53.0	58.0	56.0					6																	562806		2198	4292	6490	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:562806T>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1829A>T	6.37:g.562806T>A	ENSP00000230449:p.Asp610Val					EXOC2_uc003mte.2_Missense_Mutation_p.D610V|EXOC2_uc011dho.1_Missense_Mutation_p.D205V	p.D610V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	17	1963	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	610					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1829A>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325280	0.81580	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.29142	1.58;1.58	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.66939	2.045	0.80722	D	1	D	0.63880	0.993	P	0.53649	0.731	T	0.10543	-1.0625	10	0.40728	T	0.16	-31.9399	15.9418	0.79758	0.0:0.0:0.0:1.0	.	610	Q96KP1	EXOC2_HUMAN	V	610;205	ENSP00000230449:D610V;ENSP00000398113:D205V	ENSP00000230449:D610V	D	-	2	0	EXOC2	507806	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	7.237000	0.78164	2.158000	0.67659	0.455000	0.32223	GAC		PASS	0.259	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		9	50	9	50	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4031871	4031871	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:4031871C>A	ENST00000337659.6	+	2	220	c.120C>A	c.(118-120)caC>caA	p.H40Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.H26Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	40	Arg/Lys-rich (basic).|His-rich.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H40Q(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAATAAGCACAGTCGTCACa	0.299																																						uc003mvv.2																			1	Substitution - Missense(1)		lung(1)	breast(5)	5						c.(118-120)CAC>CAA		serine/threonine-protein kinase PRP4K							74.0	70.0	71.0					6																	4031871		2203	4299	6502	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4031871C>A	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.120C>A	6.37:g.4031871C>A	ENSP00000337194:p.His40Gln					PRPF4B_uc011dhv.1_RNA	p.H40Q	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	211	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	40			His-rich.|Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.120C>A	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495233	0.44352	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.65178	-0.14;-0.12	5.54	1.82	0.25136	.	0.000000	0.64402	D	0.000001	T	0.51432	0.1674	L	0.29908	0.895	0.41469	D	0.988094	D	0.65815	0.995	D	0.70487	0.969	T	0.50775	-0.8788	10	0.36615	T	0.2	.	9.41	0.38485	0.0:0.7161:0.0:0.2839	.	40	Q13523	PRP4B_HUMAN	Q	40;26	ENSP00000337194:H40Q;ENSP00000439331:H26Q	ENSP00000337194:H40Q	H	+	3	2	PRPF4B	3976870	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.549000	0.36212	0.301000	0.22738	0.563000	0.77884	CAC		PASS	0.299	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			6	70	6	70	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032230	4032230	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:4032230C>A	ENST00000337659.6	+	2	579	c.479C>A	c.(478-480)tCt>tAt	p.S160Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S146Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	160	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S160Y(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGAAATAGGTCTAGTACTAGA	0.403																																						uc003mvv.2																			1	Substitution - Missense(1)		lung(1)	breast(5)	5						c.(478-480)TCT>TAT		serine/threonine-protein kinase PRP4K							72.0	79.0	77.0					6																	4032230		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032230C>A	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.479C>A	6.37:g.4032230C>A	ENSP00000337194:p.Ser160Tyr					PRPF4B_uc011dhv.1_RNA	p.S160Y	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	570	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	160			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.479C>A	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544994	0.65198	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69175	-0.38;-0.35	5.35	5.35	0.76521	.	0.297803	0.29822	N	0.011104	T	0.41994	0.1183	N	0.19112	0.55	0.30625	N	0.758131	B	0.27732	0.187	B	0.27887	0.084	T	0.50792	-0.8786	10	0.66056	D	0.02	.	19.053	0.93053	0.0:1.0:0.0:0.0	.	160	Q13523	PRP4B_HUMAN	Y	160;146	ENSP00000337194:S160Y;ENSP00000439331:S146Y	ENSP00000337194:S160Y	S	+	2	0	PRPF4B	3977229	0.998000	0.40836	0.998000	0.56505	0.964000	0.63967	5.311000	0.65786	2.492000	0.84095	0.462000	0.41574	TCT		PASS	0.403	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			7	84	7	84	---	---	---	---
TXNDC5	81567	broad.mit.edu	37	6	7888999	7888999	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:7888999G>T	ENST00000379757.4	-	7	939	c.902C>A	c.(901-903)gCg>gAg	p.A301E	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.A229E|TXNDC5_ENST00000473453.1_Missense_Mutation_p.A193E	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	301					apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.A301E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GGTCTCCGTCGCTCCAGTCTC	0.642																																					Ovarian(119;1430 1625 3928 26125 34589)	uc003mxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)GCG>GAG		thioredoxin domain containing 5 isoform 1							127.0	123.0	124.0					6																	7888999		2203	4300	6503	SO:0001583	missense	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:7888999G>T	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.902C>A	6.37:g.7888999G>T	ENSP00000369081:p.Ala301Glu					TXNDC5_uc003mxw.2_Missense_Mutation_p.A258E|TXNDC5_uc010jnz.2_Missense_Mutation_p.A193E|TXNDC5_uc010joa.1_Missense_Mutation_p.A193E	p.A301E	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN			7	934	-	Ovarian(93;0.0398)		301					B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	c.902C>A	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	G	4.290	0.052949	0.08291	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03413	3.94;3.94;3.95	4.88	3.03	0.35002	.	0.355710	0.31392	N	0.007737	T	0.00552	0.0018	N	0.17474	0.49	0.09310	N	1	B;B	0.17465	0.022;0.01	B;B	0.12837	0.006;0.008	T	0.48340	-0.9044	10	0.02654	T	1	.	6.1026	0.20055	0.0754:0.1344:0.6515:0.1387	.	229;301	Q86UY0;Q8NBS9	.;TXND5_HUMAN	E	229;301;193	ENSP00000442453:A229E;ENSP00000369081:A301E;ENSP00000420784:A193E	ENSP00000442453:A229E	A	-	2	0	TXNDC5	7833998	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	1.344000	0.33941	1.168000	0.42723	-0.305000	0.09177	GCG		PASS	0.642	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		5	54	5	54	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12122673	12122673	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:12122673G>T	ENST00000379388.2	+	4	2977	c.2645G>T	c.(2644-2646)gGa>gTa	p.G882V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	882					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G882V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTTGTATCGGGACCTAACGCT	0.453																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2644-2646)GGA>GTA		human immunodeficiency virus type I enhancer							95.0	93.0	93.0					6																	12122673		1929	4147	6076	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122673G>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2645G>T	6.37:g.12122673G>T	ENSP00000368698:p.Gly882Val					HIVEP1_uc011diq.1_RNA	p.G882V	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2824	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	882					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2645G>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705323	0.48412	.	.	ENSG00000095951	ENST00000379388	T	0.11063	2.81	6.02	6.02	0.97574	.	0.000000	0.35407	N	0.003222	T	0.28200	0.0696	M	0.83012	2.62	0.80722	D	1	D	0.65815	0.995	P	0.60068	0.868	T	0.01143	-1.1438	9	.	.	.	-26.3416	20.5407	0.99260	0.0:0.0:1.0:0.0	.	882	P15822	ZEP1_HUMAN	V	882	ENSP00000368698:G882V	.	G	+	2	0	HIVEP1	12230659	1.000000	0.71417	0.882000	0.34594	0.319000	0.28217	5.224000	0.65288	2.865000	0.98341	0.655000	0.94253	GGA		PASS	0.453	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		6	65	6	65	---	---	---	---
MRS2	57380	broad.mit.edu	37	6	24423172	24423172	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:24423172G>A	ENST00000378386.3	+	10	1208	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	MRS2_ENST00000378353.1_Missense_Mutation_p.R372K|MRS2_ENST00000543597.1_Missense_Mutation_p.R81K|MRS2_ENST00000535061.1_Missense_Mutation_p.R322K|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.R375K	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	372						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R372K(1)|p.R372I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TAGGACCATAGAATTTTTTGG	0.443																																						uc003neb.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1114-1116)AGA>AAA		MRS2-like, magnesium homeostasis factor							147.0	138.0	141.0					6																	24423172		2203	4300	6503	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24423172G>A	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1115G>A	6.37:g.24423172G>A	ENSP00000367637:p.Arg372Lys					MRS2_uc003nea.2_Missense_Mutation_p.R372K|MRS2_uc011djl.1_Missense_Mutation_p.R375K|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.R322K|MRS2_uc003nec.2_Missense_Mutation_p.R249K	p.R372K	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN			10	1237	+			372			Mitochondrial intermembrane (Potential).		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.1115G>A	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404552	0.42613	.	.	ENSG00000124532	ENST00000543597;ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T;T	0.43688	0.94;1.54;1.52;0.95;1.51	6.15	6.15	0.99193	.	0.105135	0.64402	D	0.000007	T	0.20700	0.0498	L	0.32530	0.975	0.23487	N	0.997572	P;P;P;B	0.40083	0.519;0.702;0.57;0.325	B;B;B;B	0.40825	0.251;0.341;0.175;0.108	T	0.10474	-1.0628	10	0.29301	T	0.29	-24.363	13.9607	0.64177	0.0687:0.0:0.9313:0.0	.	322;375;372;372	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	K	81;322;372;372;375	ENSP00000438118:R81K;ENSP00000441839:R322K;ENSP00000367637:R372K;ENSP00000367604:R372K;ENSP00000399585:R375K	ENSP00000367604:R372K	R	+	2	0	MRS2	24531151	0.998000	0.40836	0.085000	0.20634	0.373000	0.29922	7.853000	0.86934	2.932000	0.99384	0.643000	0.83706	AGA		PASS	0.443	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			33	82	33	82	---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26410260	26410260	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:26410260C>A	ENST00000289361.6	+	7	1332	c.964C>A	c.(964-966)Cgg>Agg	p.R322R	BTN3A1_ENST00000476549.2_Splice_Site_p.R322R|BTN3A1_ENST00000425234.2_Splice_Site_p.R322R|BTN3A1_ENST00000414912.2_Splice_Site_p.R270R	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	322	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R322R(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTATGCATCTCGTAAGTGCCT	0.463																																						uc003nhv.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(964-966)CGG>AGG		butyrophilin, subfamily 3, member A1 isoform a							196.0	177.0	184.0					6																	26410260		2203	4300	6503	SO:0001630	splice_region_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26410260C>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.964+1C>A	6.37:g.26410260C>A						BTN3A1_uc011dkj.1_Silent_p.R322R|BTN3A1_uc011dkk.1_Silent_p.R270R|BTN3A1_uc010jqj.2_Silent_p.R322R	p.R322R	NM_007048	NP_008979	O00481	BT3A1_HUMAN			7	1332	+			322			Cytoplasmic (Potential).|B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.964C>A	CCDS4608.1																																																																																				PASS	0.463	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		Silent	5	103	5	103	---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26506973	26506973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:26506973G>T	ENST00000244513.6	+	4	838	c.772G>T	c.(772-774)Gga>Tga	p.G258*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	258						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G258*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GATGGTTCTAGGACTTCTCAC	0.448																																						uc003nif.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(772-774)GGA>TGA		butyrophilin, subfamily 1, member A1 precursor							195.0	193.0	194.0					6																	26506973		2203	4300	6503	SO:0001587	stop_gained	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26506973G>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.772G>T	6.37:g.26506973G>T	ENSP00000244513:p.Gly258*						p.G258*	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			4	792	+			258			Helical; (Potential).		Q4VAN3|Q4VAN4|Q9H458	Nonsense_Mutation	SNP	ENST00000244513.6	37	c.772G>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399210	0.62177	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	.	.	.	5.4	5.4	0.78164	.	0.413516	0.20762	N	0.086144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	15.0161	0.71584	0.0:0.0:1.0:0.0	.	.	.	.	X	258	.	ENSP00000244513:G258X	G	+	1	0	BTN1A1	26614952	0.990000	0.36364	0.969000	0.41365	0.012000	0.07955	4.431000	0.59915	2.683000	0.91414	0.655000	0.94253	GGA		PASS	0.448	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		8	182	8	182	---	---	---	---
GPX6	257202	broad.mit.edu	37	6	28472238	28472238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:28472238G>T	ENST00000361902.1	-	5	546	c.497C>A	c.(496-498)tCa>tAa	p.S166*	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Missense_Mutation_p.Q133K	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	166					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.S166*(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GAGTTGGCTTGATGAGCCCAA	0.458																																						uc011dlj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(496-498)TCA>TAA		glutathione peroxidase 6 precursor	Glutathione(DB00143)						54.0	55.0	55.0					6																	28472238		1858	4105	5963	SO:0001587	stop_gained	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28472238G>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.497C>A	6.37:g.28472238G>T	ENSP00000354581:p.Ser166*					GPX6_uc010jrg.1_RNA	p.S166*	NM_182701	NP_874360	P59796	GPX6_HUMAN			6	547	-			166					Q4PJ17	Nonsense_Mutation	SNP	ENST00000361902.1	37	c.497C>A	CCDS43432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.33|14.33	2.503030|2.503030	0.44558|0.44558	.|.	.|.	ENSG00000198704|ENSG00000198704	ENST00000474923|ENST00000361902	T|.	0.09723|.	2.95|.	4.31|4.31	3.44|3.44	0.39384|0.39384	.|.	.|0.638805	.|0.16202	.|N	.|0.224897	T|.	0.12860|.	0.0312|.	.|.	.|.	.|.	0.19945|0.19945	N|N	0.99994|0.99994	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21586|.	-1.0241|.	6|.	0.36615|0.14656	T|T	0.2|0.56	.|.	10.4601|10.4601	0.44575|0.44575	0.0971:0.0:0.9029:0.0|0.0971:0.0:0.9029:0.0	.|.	.|.	.|.	.|.	K|X	133|166	ENSP00000417364:Q133K|.	ENSP00000417364:Q133K|ENSP00000354581:S166X	Q|S	-|-	1|2	0|0	GPX6|GPX6	28580217|28580217	0.396000|0.396000	0.25262|0.25262	0.007000|0.007000	0.13788|0.13788	0.642000|0.642000	0.38348|0.38348	3.606000|3.606000	0.54095|0.54095	1.375000|1.375000	0.46248|0.46248	0.591000|0.591000	0.81541|0.81541	CAA|TCA		PASS	0.458	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			9	38	9	38	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054191	29054191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:29054191C>A	ENST00000377173.2	-	1	899	c.835G>T	c.(835-837)Gga>Tga	p.G279*		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G279*(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GTGATGATTCCATAGAAGAGG	0.418																																						uc003nlx.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(835-837)GGA>TGA		olfactory receptor, family 2, subfamily B,							99.0	87.0	91.0					6																	29054191		2203	4300	6503	SO:0001587	stop_gained	442184							g.chr6:29054191C>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.835G>T	6.37:g.29054191C>A	ENSP00000366378:p.Gly279*						p.G279*	NM_001005226	NP_001005226					1	900	-								B0UYQ1|Q5ST41|Q96R13	Nonsense_Mutation	SNP	ENST00000377173.2	37	c.835G>T	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588158	0.66105	.	.	ENSG00000204703	ENST00000377173	.	.	.	3.82	1.98	0.26296	.	0.000000	0.40064	U	0.001187	.	.	.	.	.	.	0.46725	D	0.999174	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	2.6825	0.05098	0.2047:0.39:0.0:0.4054	.	.	.	.	X	279	.	ENSP00000366378:G279X	G	-	1	0	OR2B3	29162170	0.000000	0.05858	0.846000	0.33378	0.894000	0.52154	-0.621000	0.05559	0.570000	0.29347	0.523000	0.50628	GGA		PASS	0.418	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			6	54	6	54	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29365200	29365200	+	Missense_Mutation	SNP	T	T	A	rs61742210	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:29365200T>A	ENST00000383555.2	+	1	785	c.724T>A	c.(724-726)Tcc>Acc	p.S242T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CACTTGTGCCTCCCACTTCAT	0.433																																						uc003nmf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)TCC>ACC		olfactory receptor, family 12, subfamily D,							225.0	218.0	221.0					6																	29365200		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365200T>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.724T>A	6.37:g.29365200T>A	ENSP00000373047:p.Ser242Thr						p.S242T	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	785	+			242			Helical; Name=6; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.724T>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928387	0.34002	.	.	ENSG00000168787	ENST00000383555	T	0.39056	1.1	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.111982	0.40469	N	0.001083	T	0.56920	0.2018	M	0.91196	3.185	0.27616	N	0.948491	D	0.76494	0.999	D	0.73708	0.981	T	0.55761	-0.8090	10	0.72032	D	0.01	.	8.5558	0.33480	0.0:0.096:0.0:0.904	.	242	P58182	O12D2_HUMAN	T	242	ENSP00000373047:S242T	ENSP00000373047:S242T	S	+	1	0	OR12D2	29473179	0.856000	0.29760	0.993000	0.49108	0.347000	0.29111	1.410000	0.34691	1.643000	0.50594	0.172000	0.16884	TCC		PASS	0.433	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			13	107	13	107	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29640398	29640398	+	IGR	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:29640398C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Nonsense_Mutation_p.W477*|ZFP57_ENST00000376883.1_Nonsense_Mutation_p.W477*|ZFP57_ENST00000488757.1_Nonsense_Mutation_p.W497*	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W477*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCATGCTTCCATTCCTCCCC	0.567																																						uc011dlw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1489-1491)TGG>TAG		zinc finger protein 57 homolog							60.0	66.0	64.0					6																	29640398		1273	2561	3834	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640398C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640398C>T						ZFP57_uc003nnl.3_Nonsense_Mutation_p.W477*	p.W497*	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1641	-			413					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Nonsense_Mutation	SNP	ENST00000376917.3	37	c.1490G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018417	0.93404	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	.	.	.	3.74	-3.42	0.04825	.	3.403070	0.01259	N	0.009104	.	.	.	.	.	.	0.50632	D	0.999885	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	5.6733	3.4545	0.07510	0.3502:0.396:0.0:0.2538	.	.	.	.	X	497;477;477	.	ENSP00000366078:W477X	W	-	2	0	ZFP57	29748377	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.861000	0.04268	-0.670000	0.05282	-0.379000	0.06801	TGG		PASS	0.567	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		6	28	6	28	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572489	30572489	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:30572489C>A	ENST00000376511.2	-	12	1530	c.978G>T	c.(976-978)acG>acT	p.T326T		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	326	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.T326T(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTTCTGTGCTCGTTTTCCCTT	0.542																																						uc003nqn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|kidney(1)	4						c.(976-978)ACG>ACT		protein phosphatase 1, regulatory subunit 10							297.0	290.0	292.0					6																	30572489		1511	2709	4220	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572489C>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.978G>T	6.37:g.30572489C>A						PPP1R10_uc010jsc.1_Intron	p.T326T	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			12	1530	-			326			Interaction with TOX4 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.978G>T	CCDS4681.1																																																																																				PASS	0.542	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	148	7	148	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30672302	30672302	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:30672302G>A	ENST00000376406.3	-	10	5305	c.4658C>T	c.(4657-4659)tCt>tTt	p.S1553F	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1289F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1553	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.S1553F(1)		breast(2)|kidney(1)|ovary(1)	4						AGTGGCCCGAGATGTGGGCTC	0.577								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4657-4659)TCT>TTT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							119.0	137.0	131.0					6																	30672302		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672302G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4658C>T	6.37:g.30672302G>A	ENSP00000365588:p.Ser1553Phe					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1160F	p.S1553F	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5098	-			1553			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4658C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254489	0.39896	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.10477	2.87;2.87	4.04	1.31	0.21738	.	.	.	.	.	T	0.11707	0.0285	L	0.58810	1.83	0.09310	N	1	D;D	0.71674	0.998;0.996	D;P	0.70487	0.969;0.859	T	0.08249	-1.0731	9	0.62326	D	0.03	.	6.0604	0.19835	0.3257:0.0:0.6743:0.0	.	1289;1553	Q14676-2;Q14676	.;MDC1_HUMAN	F	1553;1289;1266;1119	ENSP00000365588:S1553F;ENSP00000365587:S1289F	ENSP00000365587:S1289F	S	-	2	0	MDC1	30780281	0.034000	0.19679	0.001000	0.08648	0.013000	0.08279	1.559000	0.36320	0.295000	0.22570	-0.403000	0.06358	TCT		PASS	0.577	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		17	82	17	82	---	---	---	---
NCR3	259197	broad.mit.edu	37	6	31556510	31556510	+	IGR	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:31556510G>T	ENST00000340027.5	-	0	1042				LST1_ENST00000339530.4_3'UTR|LST1_ENST00000396101.3_3'UTR|NCR3_ENST00000491161.1_5'Flank|LST1_ENST00000376089.2_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000303757.8_3'UTR|LST1_ENST00000376110.3_3'UTR|LST1_ENST00000376093.2_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000376111.4_Missense_Mutation_p.S62I|LST1_ENST00000376102.3_3'UTR|LST1_ENST00000376086.3_3'UTR|LST1_ENST00000418507.2_3'UTR|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000438075.2_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3						cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						CTGTGGTCCAGCCAGTAAAAA	0.532																																						uc003num.2																			0					0						c.(349-351)AGC>ATC		leukocyte specific transcript 1 isoform 1							34.0	34.0	34.0					6																	31556510		1510	2707	4217	SO:0001628	intergenic_variant	7940				cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding	g.chr6:31556510G>T	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123		6.37:g.31556510G>T						LST1_uc003nun.2_3'UTR|LST1_uc003nuo.2_Missense_Mutation_p.S62I|LST1_uc003nup.2_3'UTR|LST1_uc003nuq.2_Missense_Mutation_p.S72I|LST1_uc010jsx.2_RNA|LST1_uc003nuu.2_RNA|LST1_uc003nut.2_RNA|LST1_uc010jsw.2_Missense_Mutation_p.S108I	p.S117I	NM_007161	NP_009092	O00453	LST1_HUMAN			5	572	+			Error:Variant_position_missing_in_O00453_after_alignment					B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	ENST00000340027.5	37	c.350G>T	CCDS34397.1	.	.	.	.	.	.	.	.	.	.	G	5.940	0.357524	0.11239	.	.	ENSG00000204482	ENST00000376111	.	.	.	4.13	2.36	0.29203	.	1.555130	0.04383	N	0.361061	T	0.14614	0.0353	.	.	.	0.09310	N	1	B;B;B	0.16802	0.009;0.009;0.019	B;B;B	0.13407	0.009;0.009;0.004	T	0.29397	-1.0013	8	0.87932	D	0	0.3	5.9631	0.19310	0.0:0.701:0.195:0.1039	.	74;62;117	E7ENG1;A8MT08;E7EMY3	.;.;.	I	62	.	ENSP00000365279:S62I	S	+	2	0	LST1	31664489	0.000000	0.05858	0.011000	0.14972	0.030000	0.12068	-0.409000	0.07160	0.699000	0.31761	-0.313000	0.08912	AGC		PASS	0.532	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			4	7	4	7	---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245953	33245953	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:33245953C>A	ENST00000451237.1	+	1	1037	c.757C>A	c.(757-759)Cac>Aac	p.H253N		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	253					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.H253N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCAGTGGCCTCACACCTGGGG	0.657																																						uc003odr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(757-759)CAC>AAC		UDP-Gal:betaGlcNAc beta							46.0	50.0	49.0					6																	33245953		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245953C>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.757C>A	6.37:g.33245953C>A	ENSP00000390784:p.His253Asn						p.H253N	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	1037	+			253			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000451237.1	37	c.757C>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101535	0.20632	.	.	ENSG00000235863	ENST00000451237	T	0.41400	1.0	4.49	-1.13	0.09775	.	2.375920	0.02538	N	0.094274	T	0.07234	0.0183	N	0.05414	-0.055	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.12477	-1.0546	10	0.25751	T	0.34	.	4.7221	0.12924	0.1312:0.3662:0.4098:0.0928	.	253	O96024	B3GT4_HUMAN	N	253	ENSP00000390784:H253N	ENSP00000390784:H253N	H	+	1	0	B3GALT4	33353931	0.000000	0.05858	0.038000	0.18304	0.832000	0.47134	-0.228000	0.09114	-0.102000	0.12197	0.643000	0.83706	CAC		PASS	0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			6	27	6	27	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34937797	34937797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:34937797G>T	ENST00000360359.3	+	3	427	c.289G>T	c.(289-291)Gag>Tag	p.E97*	ANKS1A_ENST00000535627.1_Nonsense_Mutation_p.E97*	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	97					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.E97*(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGATGTGGTCGAGGTTCTTCT	0.493																																						uc003ojx.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(289-291)GAG>TAG		ankyrin repeat and sterile alpha motif domain							151.0	143.0	146.0					6																	34937797		2203	4300	6503	SO:0001587	stop_gained	23294					cytoplasm	protein binding	g.chr6:34937797G>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.289G>T	6.37:g.34937797G>T	ENSP00000353518:p.Glu97*					ANKS1A_uc011dss.1_Nonsense_Mutation_p.E97*|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_RNA|ANKS1A_uc010jvr.1_5'Flank	p.E97*	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			3	431	+			97			ANK 1.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Nonsense_Mutation	SNP	ENST00000360359.3	37	c.289G>T	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017961	0.97205	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	.	.	.	6.16	6.16	0.99307	.	0.000000	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-29.8905	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	97	.	ENSP00000353518:E97X	E	+	1	0	ANKS1A	35045775	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.879000	0.56138	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.493	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		5	68	5	68	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35088735	35088735	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:35088735G>T	ENST00000512012.1	-	5	822	c.666C>A	c.(664-666)tcC>tcA	p.S222S	TCP11_ENST00000373979.2_Silent_p.S160S|TCP11_ENST00000444780.2_Silent_p.S230S|TCP11_ENST00000412155.2_Silent_p.S184S|TCP11_ENST00000311875.5_Silent_p.S235S|TCP11_ENST00000373974.4_Silent_p.S189S|TCP11_ENST00000244645.3_Silent_p.S160S|TCP11_ENST00000418521.2_Silent_p.S159S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	222					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S235S(1)|p.S160S(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATACTGAATGGAATGTTCCT	0.493																																						uc003okd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(703-705)TCC>TCA		t-complex 11 isoform 1							256.0	259.0	258.0					6																	35088735		2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088735G>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.666C>A	6.37:g.35088735G>T						TCP11_uc003ojz.1_Silent_p.S160S|TCP11_uc003oka.2_Silent_p.S160S|TCP11_uc003okb.2_Silent_p.S159S|TCP11_uc003okc.2_Silent_p.S159S|TCP11_uc011dsu.1_Silent_p.S217S|TCP11_uc011dsv.1_Silent_p.S184S|TCP11_uc011dsw.1_Silent_p.S189S	p.S235S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			6	886	-			222					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.705C>A		.	.	.	.	.	.	.	.	.	.	G	7.567	0.665873	0.14710	.	.	ENSG00000124678	ENST00000502480	.	.	.	4.32	1.36	0.22044	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15235	-1.0444	4	.	.	.	.	4.3038	0.10937	0.3412:0.0:0.5049:0.1539	.	.	.	.	N	30	.	.	H	-	1	0	TCP11	35196713	0.918000	0.31147	0.997000	0.53966	0.778000	0.44026	0.059000	0.14322	0.586000	0.29626	-0.251000	0.11542	CAT		PASS	0.493	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		8	171	8	171	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38819390	38819390	+	Silent	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:38819390T>C	ENST00000359357.3	+	37	5009	c.4755T>C	c.(4753-4755)ttT>ttC	p.F1585F	DNAH8_ENST00000449981.2_Silent_p.F1802F|DNAH8_ENST00000441566.1_Silent_p.F1585F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1585					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.F1585F(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						GATTCTTCTTTGTATCTGATC	0.363																																						uc003ooe.1																			2	Substitution - coding silent(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4753-4755)TTT>TTC		dynein, axonemal, heavy polypeptide 8							90.0	93.0	92.0					6																	38819390		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38819390T>C	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.4755T>C	6.37:g.38819390T>C							p.F1585F	NM_001371	NP_001362					37	5355	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4755T>C																																																																																					PASS	0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	47	10	47	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38851097	38851097	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:38851097G>T	ENST00000359357.3	+	53	7604		c.e53-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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.?(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						TATGATTGCAGGCTGTTTTGC	0.333																																						uc003ooe.1																			2	Unknown(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.e53-1		dynein, axonemal, heavy polypeptide 8							90.0	92.0	91.0					6																	38851097		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38851097G>T	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.7351-1G>T	6.37:g.38851097G>T							p.A2451_splice	NM_001371	NP_001362					53	7951	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.7351_splice		.	.	.	.	.	.	.	.	.	.	G	24.6	4.550449	0.86127	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38959075	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.673000	0.74482	2.589000	0.87451	0.557000	0.71058	.		PASS	0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	25	97	25	97	---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44328258	44328258	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:44328258C>A	ENST00000288390.2	+	3	710	c.363C>A	c.(361-363)gtC>gtA	p.V121V	SPATS1_ENST00000323108.8_Silent_p.V121V|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	121								p.V121V(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCCTGAAGTCCAAAAGGATA	0.468																																						uc003oxk.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(361-363)GTC>GTA		spermatogenesis associated, serine-rich 1							127.0	117.0	121.0					6																	44328258		2203	4300	6503	SO:0001819	synonymous_variant	221409							g.chr6:44328258C>A	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.363C>A	6.37:g.44328258C>A						SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Silent_p.V6V	p.V121V	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	710	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		121					Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	c.363C>A	CCDS4911.1																																																																																				PASS	0.468	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		21	68	21	68	---	---	---	---
PLA2G7	7941	broad.mit.edu	37	6	46672348	46672348	+	Silent	SNP	G	G	T	rs200419579	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:46672348G>T	ENST00000274793.7	-	12	1471	c.1275C>A	c.(1273-1275)acC>acA	p.T425T	PLA2G7_ENST00000537365.1_Silent_p.T425T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	425					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.T425T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTGTTGATTGGTTGTGTTAA	0.308													G|||	2	0.000399361	0.0	0.0	5008	,	,		18046	0.0		0.0	False		,,,				2504	0.002					uc010jzf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1273-1275)ACC>ACA		phospholipase A2, group VII							120.0	108.0	112.0					6																	46672348		2202	4300	6502	SO:0001819	synonymous_variant	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46672348G>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1275C>A	6.37:g.46672348G>T							p.T425T	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		12	1544	-			425					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Silent	SNP	ENST00000274793.7	37	c.1275C>A	CCDS4917.1																																																																																				PASS	0.308	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			7	86	7	86	---	---	---	---
MUT	4594	broad.mit.edu	37	6	49407971	49407971	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:49407971G>T	ENST00000274813.3	-	11	2031	c.1904C>A	c.(1903-1905)gCt>gAt	p.A635D		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	635	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.A635D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATCCTGTAGCAATAACTTT	0.418																																						uc003ozg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1903-1905)GCT>GAT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						156.0	144.0	148.0					6																	49407971		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49407971G>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1904C>A	6.37:g.49407971G>T	ENSP00000274813:p.Ala635Asp						p.A635D	NM_000255	NP_000246	P22033	MUTA_HUMAN			11	2159	-	Lung NSC(77;0.0376)		635			B12-binding.		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1904C>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722984	0.89298	.	.	ENSG00000146085	ENST00000274813;ENST00000540138	D	0.97505	-4.41	5.68	5.68	0.88126	Cobalamin (vitamin B12)-binding (4);Methylmalonyl-CoA mutase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98640	1.0675	10	0.87932	D	0	-18.5509	18.7723	0.91898	0.0:0.0:1.0:0.0	.	635	P22033	MUTA_HUMAN	D	635;82	ENSP00000274813:A635D	ENSP00000274813:A635D	A	-	2	0	MUT	49515930	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	9.476000	0.97823	2.676000	0.91093	0.591000	0.81541	GCT		PASS	0.418	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			6	100	6	100	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49700998	49700998	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:49700998C>A	ENST00000393666.1	-	5	437	c.431G>T	c.(430-432)tGg>tTg	p.W144L	CRISP3_ENST00000433368.2_Missense_Mutation_p.W167L|CRISP3_ENST00000371159.4_Missense_Mutation_p.W175L|CRISP3_ENST00000423399.2_Missense_Mutation_p.W54L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W157L			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	144	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.W144L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGAAGAGTACCAAACAACCTA	0.338																																						uc003ozs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(430-432)TGG>TTG		cysteine-rich secretory protein 3 precursor							100.0	100.0	100.0					6																	49700998		2203	4297	6500	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49700998C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.431G>T	6.37:g.49700998C>A	ENSP00000377274:p.Trp144Leu						p.W144L	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	446	-	Lung NSC(77;0.0161)		144					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.431G>T		.	.	.	.	.	.	.	.	.	.	C	17.10	3.304037	0.60305	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.57107	2.43;2.43;2.43;0.42;2.43;2.43	5.07	4.18	0.49190	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.000000	0.64402	U	0.000006	T	0.80265	0.4591	H	0.99464	4.58	0.41338	D	0.987288	D	0.89917	1.0	D	0.97110	1.0	D	0.85639	0.1275	10	0.87932	D	0	.	9.9737	0.41770	0.0:0.8998:0.0:0.1002	.	144	P54108	CRIS3_HUMAN	L	157;167;144;54;175;167	ENSP00000263045:W157L;ENSP00000389026:W167L;ENSP00000377274:W144L;ENSP00000410469:W54L;ENSP00000360201:W175L;ENSP00000346636:W167L	ENSP00000263045:W157L	W	-	2	0	CRISP3	49808957	1.000000	0.71417	0.991000	0.47740	0.634000	0.38068	4.728000	0.62000	2.513000	0.84729	0.491000	0.48974	TGG		PASS	0.338	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		8	105	8	105	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51503701	51503701	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:51503701C>A	ENST00000371117.3	-	64	11727	c.11452G>T	c.(11452-11454)Gtc>Ttc	p.V3818F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3818					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.V3818F(1)		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)					GAGATCAAGACTGCCAAGTTG	0.343																																						uc003pah.1																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11452-11454)GTC>TTC		fibrocystin isoform 1							155.0	157.0	156.0					6																	51503701		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.chr6:51503701C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11452G>T	6.37:g.51503701C>A	ENSP00000360158:p.Val3818Phe						p.V3818F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			64	11728	-	Lung NSC(77;0.0605)		3818			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11452G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513507	0.64522	.	.	ENSG00000170927	ENST00000371117	D	0.89939	-2.59	5.7	1.99	0.26369	.	0.369488	0.25613	N	0.029472	D	0.84170	0.5413	M	0.64997	1.995	0.80722	D	1	D	0.56035	0.974	P	0.51135	0.66	T	0.81865	-0.0736	10	0.54805	T	0.06	.	7.8166	0.29263	0.0:0.6662:0.0:0.3338	.	3818	P08F94	PKHD1_HUMAN	F	3818	ENSP00000360158:V3818F	ENSP00000360158:V3818F	V	-	1	0	PKHD1	51611660	0.998000	0.40836	0.994000	0.49952	0.901000	0.52897	0.690000	0.25451	0.079000	0.16929	-0.237000	0.12165	GTC		PASS	0.343	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		8	192	8	192	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51732720	51732720	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:51732720C>A	ENST00000371117.3	-	48	7949	c.7674G>T	c.(7672-7674)cgG>cgT	p.R2558R	PKHD1_ENST00000340994.4_Silent_p.R2558R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2558					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.R2558R(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)					CATGGACAACCCGACCAAAGC	0.433																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(7672-7674)CGG>CGT		fibrocystin isoform 1							86.0	80.0	82.0					6																	51732720		2203	4299	6502	SO:0001819	synonymous_variant	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.chr6:51732720C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7674G>T	6.37:g.51732720C>A						PKHD1_uc010jzn.1_Silent_p.R541R|PKHD1_uc003pai.2_Silent_p.R2558R	p.R2558R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			48	7950	-	Lung NSC(77;0.0605)		2558			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.7674G>T	CCDS4935.1																																																																																				PASS	0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	28	7	28	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52303306	52303306	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:52303306C>A	ENST00000371068.5	+	3	593	c.490C>A	c.(490-492)Cat>Aat	p.H164N	EFHC1_ENST00000433625.2_Missense_Mutation_p.H73N|EFHC1_ENST00000538167.1_Missense_Mutation_p.H145N|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	164	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.H164N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGACCATTACCATTGGAAAGA	0.408																																						uc003pap.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(490-492)CAT>AAT		EF-hand domain (C-terminal) containing 1							64.0	67.0	66.0					6																	52303306		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52303306C>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.490C>A	6.37:g.52303306C>A	ENSP00000360107:p.His164Asn					EFHC1_uc011dwv.1_Missense_Mutation_p.H73N|EFHC1_uc011dww.1_Missense_Mutation_p.H145N	p.H164N	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			3	705	+	Lung NSC(77;0.109)		164			DM10 1.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.490C>A	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771721	0.49680	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.68025	-0.04;-0.3;-0.24	5.56	5.56	0.83823	Uncharacterised domain DM10 (2);	0.199477	0.49305	D	0.000150	T	0.50120	0.1597	L	0.43757	1.38	0.52099	D	0.999943	B;B;B	0.29590	0.25;0.212;0.009	B;B;B	0.34489	0.184;0.058;0.01	T	0.50499	-0.8821	10	0.17369	T	0.5	-4.9382	19.5359	0.95254	0.0:1.0:0.0:0.0	.	145;73;164	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	N	164;73;145	ENSP00000360107:H164N;ENSP00000416492:H73N;ENSP00000444521:H145N	ENSP00000360107:H164N	H	+	1	0	EFHC1	52411265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.789000	0.62446	2.617000	0.88574	0.655000	0.94253	CAT		PASS	0.408	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		7	78	7	78	---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	56997877	56997877	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:56997877T>G	ENST00000370706.4	+	6	706	c.462T>G	c.(460-462)agT>agG	p.S154R	ZNF451_ENST00000491832.2_Missense_Mutation_p.S154R|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S154R|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S154R(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAACAAAAAGTTCATTCCGAA	0.398																																						uc003pdm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(460-462)AGT>AGG		zinc finger protein 451 isoform 1							101.0	97.0	99.0					6																	56997877		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56997877T>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.462T>G	6.37:g.56997877T>G	ENSP00000359740:p.Ser154Arg					ZNF451_uc003pdl.2_Missense_Mutation_p.S154R|ZNF451_uc003pdn.1_Missense_Mutation_p.S154R|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S154R	p.S154R	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	686	+	Lung NSC(77;0.145)		154					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.462T>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	8.272	0.813651	0.16537	.	.	ENSG00000112200	ENST00000515290;ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.32	2.83	0.33086	.	0.523141	0.23405	N	0.048540	T	0.00815	0.0027	N	0.08118	0	0.54753	D	0.999986	B;B;B;B	0.11235	0.003;0.002;0.004;0.002	B;B;B;B	0.09377	0.004;0.002;0.003;0.002	T	0.43798	-0.9369	10	0.13853	T	0.58	-2.4964	2.8519	0.05560	0.1454:0.0851:0.142:0.6276	.	154;154;154;154	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	R	15;126;154;154;154	ENSP00000424723:S15R;ENSP00000427558:S126R;ENSP00000359740:S154R;ENSP00000350083:S154R;ENSP00000421645:S154R	ENSP00000350083:S154R	S	+	3	2	ZNF451	57105836	0.006000	0.16342	0.993000	0.49108	0.690000	0.40134	0.005000	0.13129	0.367000	0.24454	0.528000	0.53228	AGT		PASS	0.398	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		15	54	15	54	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990650	63990650	+	Missense_Mutation	SNP	G	G	C	rs150005648		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:63990650G>C	ENST00000370657.4	-	4	839	c.806C>G	c.(805-807)tCt>tGt	p.S269C	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	269					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.S269C(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGCAGGAAAGAGATTTCCAT	0.453																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(805-807)TCT>TGT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)	G	,CYS/SER	0,4406		0,0,2203	49.0	44.0	45.0		,806	2.0	1.0	6	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	LGSN	NM_001143940.1,NM_016571.2	,112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,benign	,269/510	63990650	1,13005	2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990650G>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.806C>G	6.37:g.63990650G>C	ENSP00000359691:p.Ser269Cys					LGSN_uc003pei.2_Intron	p.S269C	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	840	-			269					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.806C>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	8.208	0.799770	0.16397	0.0	1.16E-4	ENSG00000146166	ENST00000370657	D	0.86297	-2.1	5.17	1.99	0.26369	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.402905	0.32488	N	0.006026	T	0.61098	0.2320	N	0.05510	-0.035	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51252	-0.8729	10	0.30078	T	0.28	-11.3031	15.5466	0.76108	0.0:0.3253:0.6747:0.0	.	269	Q5TDP6	LGSN_HUMAN	C	269	ENSP00000359691:S269C	ENSP00000359691:S269C	S	-	2	0	LGSN	64048609	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	2.105000	0.41825	0.633000	0.30452	-0.139000	0.14373	TCT		PASS	0.453	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		7	30	7	30	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70894801	70894801	+	Silent	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:70894801A>G	ENST00000322773.4	+	46	2952	c.2850A>G	c.(2848-2850)ggA>ggG	p.G950G	COL19A1_ENST00000393344.1_Silent_p.G572G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	950	Collagen-like 11.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G950G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCCCAAAGGAGAACGTGTAT	0.403																																						uc003pfc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(2848-2850)GGA>GGG		alpha 1 type XIX collagen precursor							183.0	172.0	176.0					6																	70894801		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70894801A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2850A>G	6.37:g.70894801A>G							p.G950G	NM_001858	NP_001849	Q14993	COJA1_HUMAN			46	2967	+			950			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2850A>G	CCDS4970.1																																																																																				PASS	0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			3	36	3	36	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022793	76022793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:76022793C>A	ENST00000237172.7	-	5	3085	c.2755G>T	c.(2755-2757)Gag>Tag	p.E919*	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.E820*|FILIP1_ENST00000393004.2_Nonsense_Mutation_p.E919*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	919								p.E919*(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTGCTGTTCTCGTGGTCTGGT	0.498																																						uc003pia.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2755-2757)GAG>TAG		filamin A interacting protein 1							136.0	131.0	133.0					6																	76022793		2203	4300	6503	SO:0001587	stop_gained	27145							g.chr6:76022793C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2755G>T	6.37:g.76022793C>A	ENSP00000237172:p.Glu919*					FILIP1_uc003phy.1_Nonsense_Mutation_p.E919*|FILIP1_uc003phz.2_Nonsense_Mutation_p.E820*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E922*|FILIP1_uc003pib.1_Nonsense_Mutation_p.E671*	p.E919*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	3128	-			919					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	37	c.2755G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	43	10.220999	0.99362	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.9	5.9	0.94986	.	0.153060	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-18.2318	20.2723	0.98479	0.0:1.0:0.0:0.0	.	.	.	.	X	919;919;820	.	ENSP00000237172:E919X	E	-	1	0	FILIP1	76079513	0.491000	0.26019	0.973000	0.42090	0.981000	0.71138	2.285000	0.43487	2.793000	0.96121	0.563000	0.77884	GAG		PASS	0.498	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	77	5	77	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76660389	76660389	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:76660389C>G	ENST00000369950.3	-	13	1903	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.E572Q(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACTACCAGCTCTCGGCCCTTG	0.483																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1714-1716)GAG>CAG		interphotoreceptor matrix proteoglycan 1							76.0	70.0	72.0					6																	76660389		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660389C>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1714G>C	6.37:g.76660389C>G	ENSP00000358966:p.Glu572Gln						p.E572Q	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			13	1844	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	572			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1714G>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028948	0.93518	.	.	ENSG00000112706	ENST00000369950	T	0.33438	1.41	5.87	5.87	0.94306	SEA (1);	0.090753	0.47455	D	0.000234	T	0.52322	0.1727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48269	-0.9050	10	0.49607	T	0.09	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	572	Q17R60	IMPG1_HUMAN	Q	572	ENSP00000358966:E572Q	ENSP00000358966:E572Q	E	-	1	0	IMPG1	76717109	1.000000	0.71417	0.717000	0.30585	0.938000	0.57974	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	GAG		PASS	0.483	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		12	36	12	36	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79650528	79650528	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:79650528G>T	ENST00000275034.4	-	40	5515	c.5348C>A	c.(5347-5349)tCt>tAt	p.S1783Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1783					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.S1783Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTCCTCTTCAGAGTCATCCTC	0.423																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(5347-5349)TCT>TAT		pleckstrin homology domain interacting protein							587.0	578.0	581.0					6																	79650528		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650528G>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5348C>A	6.37:g.79650528G>T	ENSP00000275034:p.Ser1783Tyr					PHIP_uc003piq.2_Missense_Mutation_p.S807Y|PHIP_uc011dyp.1_Missense_Mutation_p.S1782Y|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.S669Y	p.S1783Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5574	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1783					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5348C>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387072	0.61956	.	.	ENSG00000146247	ENST00000275034	T	0.59364	0.27	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.55315	-0.8160	9	.	.	.	-13.895	19.3095	0.94179	0.0:0.0:1.0:0.0	.	1783;1783	A7J992;Q8WWQ0	.;PHIP_HUMAN	Y	1783	ENSP00000275034:S1783Y	.	S	-	2	0	PHIP	79707247	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.431000	0.97494	2.810000	0.96702	0.650000	0.86243	TCT		PASS	0.423	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			13	500	13	500	---	---	---	---
UBE3D	90025	broad.mit.edu	37	6	83754351	83754351	+	Silent	SNP	C	C	A	rs368145943		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:83754351C>A	ENST00000369747.3	-	4	515	c.393G>T	c.(391-393)ccG>ccT	p.P131P		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	131					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.P131P(1)									AGTTCTCACTCGGCAGTGGGA	0.408																																						uc003pjp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(391-393)CCG>CCT		ubiquitin-conjugating enzyme E2C binding							101.0	116.0	111.0					6																	83754351		2203	4300	6503	SO:0001819	synonymous_variant	90025					cytoplasm	ligase activity	g.chr6:83754351C>A	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.393G>T	6.37:g.83754351C>A						UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.P99P	p.P131P	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	4	501	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	131					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Silent	SNP	ENST00000369747.3	37	c.393G>T	CCDS34491.1																																																																																				PASS	0.408	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		5	99	5	99	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86201765	86201765	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:86201765C>A	ENST00000257770.3	+	8	1480	c.1431C>A	c.(1429-1431)acC>acA	p.T477T	NT5E_ENST00000369651.3_Silent_p.T427T	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	477					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.T477T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTCTTTGCACCAAGTGTCGAG	0.443																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1429-1431)ACC>ACA		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						174.0	168.0	170.0					6																	86201765		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86201765C>A	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1431C>A	6.37:g.86201765C>A						NT5E_uc010kbr.2_Silent_p.T427T	p.T477T	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	1987	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	477					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1431C>A	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	1.768	-0.485153	0.04352	.	.	ENSG00000135318	ENST00000416334	.	.	.	5.66	2.88	0.33553	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17899	-1.0354	4	.	.	.	-15.2347	2.6273	0.04933	0.2414:0.5001:0.1076:0.1509	.	.	.	.	Q	192	.	.	P	+	2	0	NT5E	86258484	0.451000	0.25705	1.000000	0.80357	0.323000	0.28346	-0.266000	0.08631	0.401000	0.25424	-0.136000	0.14681	CCA		PASS	0.443	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			6	122	6	122	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90371226	90371226	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:90371226C>A	ENST00000369393.3	-	88	14752	c.14637G>T	c.(14635-14637)ttG>ttT	p.L4879F	MDN1_ENST00000428876.1_Missense_Mutation_p.L4879F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4879					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L4879F(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGGAAGGTCCAAAGCCTCGG	0.478																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(14635-14637)TTG>TTT		MDN1, midasin homolog							150.0	140.0	143.0					6																	90371226		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90371226C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14637G>T	6.37:g.90371226C>A	ENSP00000358400:p.Leu4879Phe						p.L4879F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	88	14753	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4879					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.14637G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263947	0.39995	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04706	3.57;3.57	4.62	3.75	0.43078	.	0.111858	0.38005	N	0.001853	T	0.05410	0.0143	L	0.61218	1.895	0.40568	D	0.981273	D	0.59767	0.986	P	0.56398	0.797	T	0.22591	-1.0212	10	0.49607	T	0.09	.	5.1095	0.14802	0.1539:0.621:0.0:0.2251	.	4879	Q9NU22	MDN1_HUMAN	F	4879	ENSP00000358400:L4879F;ENSP00000413970:L4879F	ENSP00000358400:L4879F	L	-	3	2	MDN1	90427947	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.473000	0.35387	1.076000	0.40961	0.650000	0.86243	TTG		PASS	0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	93	7	93	---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105609377	105609377	+	Silent	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:105609377A>T	ENST00000254765.3	-	2	686	c.408T>A	c.(406-408)gtT>gtA	p.V136V	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	136					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.V136V(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TTTCCAAAGTAACCACTTCAG	0.463																																						uc003prb.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(406-408)GTT>GTA		popeye protein 3							122.0	127.0	126.0					6																	105609377		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105609377A>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.408T>A	6.37:g.105609377A>T						uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	p.V136V	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	810	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	136					B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.408T>A	CCDS5052.1																																																																																				PASS	0.463	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		13	70	13	70	---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108067950	108067950	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:108067950G>C	ENST00000369020.3	-	4	675	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Missense_Mutation_p.Q115E|SCML4_ENST00000369022.2_Missense_Mutation_p.Q86E	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q115E(1)|p.Q144E(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGCTTCTGCTGGTGGGCGCAG	0.632																																						uc010kdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(430-432)CAG>GAG		sex comb on midleg-like 4							82.0	81.0	82.0					6																	108067950		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108067950G>C		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.430C>G	6.37:g.108067950G>C	ENSP00000358016:p.Gln144Glu					SCML4_uc003prz.3_Missense_Mutation_p.Q86E|SCML4_uc011eam.1_Missense_Mutation_p.Q144E|SCML4_uc003psa.3_Missense_Mutation_p.Q115E	p.Q144E	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	4	681	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	144					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.430C>G	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216332	0.79352	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.98	4.98	0.66077	.	0.105196	0.64402	D	0.000002	T	0.44180	0.1281	M	0.71206	2.165	0.80722	D	1	P;B;P	0.48589	0.78;0.368;0.912	P;B;P	0.48488	0.471;0.386;0.579	T	0.40997	-0.9533	10	0.42905	T	0.14	.	18.4486	0.90695	0.0:0.0:1.0:0.0	.	144;144;115	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	E	86;144;115;115	ENSP00000358018:Q86E;ENSP00000358016:Q144E;ENSP00000358017:Q115E;ENSP00000404688:Q115E	ENSP00000358016:Q144E	Q	-	1	0	SCML4	108174643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.236000	0.78154	2.589000	0.87451	0.563000	0.77884	CAG		PASS	0.632	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		9	41	9	41	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111632452	111632452	+	Missense_Mutation	SNP	C	C	A	rs374701728		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:111632452C>A	ENST00000358835.3	-	30	9069	c.8615G>T	c.(8614-8616)cGt>cTt	p.R2872L	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.R2794L|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.R2872L|REV3L_ENST00000368802.3_Missense_Mutation_p.R2872L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2872					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R2794L(1)|p.R2872L(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTAGAGAACGCTCAAGTAT	0.328								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(8614-8616)CGT>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							128.0	132.0	131.0					6																	111632452		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111632452C>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8615G>T	6.37:g.111632452C>A	ENSP00000351697:p.Arg2872Leu					REV3L_uc003pux.3_Missense_Mutation_p.R2794L|REV3L_uc003puz.3_Missense_Mutation_p.R2794L|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank	p.R2872L	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	29	8938	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2872					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8615G>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449052	0.84101	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.48	5.48	0.80851	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.067082	0.64402	D	0.000008	T	0.18676	0.0448	M	0.64080	1.96	0.58432	D	0.999996	P	0.35844	0.524	B	0.41571	0.36	T	0.01508	-1.1337	10	0.66056	D	0.02	-6.7697	19.3434	0.94355	0.0:1.0:0.0:0.0	.	2872	O60673	DPOLZ_HUMAN	L	2872;2872;2872;2794	ENSP00000357792:R2872L;ENSP00000357795:R2872L;ENSP00000351697:R2872L;ENSP00000402003:R2794L	ENSP00000351697:R2872L	R	-	2	0	REV3L	111739145	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.758000	0.85224	2.580000	0.87095	0.557000	0.71058	CGT		PASS	0.328	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	169	7	169	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112471822	112471822	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:112471822A>T	ENST00000230538.7	-	17	2461	c.2064T>A	c.(2062-2064)gaT>gaA	p.D688E	LAMA4_ENST00000389463.4_Missense_Mutation_p.D681E|LAMA4_ENST00000522006.1_Missense_Mutation_p.D681E|LAMA4_ENST00000424408.2_Missense_Mutation_p.D681E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	688	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.D681E(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCACTGCTTCATCACTGCCTG	0.488																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2062-2064)GAT>GAA		laminin, alpha 4 isoform 1 precursor							123.0	109.0	114.0					6																	112471822		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112471822A>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2064T>A	6.37:g.112471822A>T	ENSP00000230538:p.Asp688Glu					LAMA4_uc003pvv.2_Missense_Mutation_p.D681E|LAMA4_uc003pvt.2_Missense_Mutation_p.D681E	p.D688E	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	17	2373	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	688			Domain II and I.|Potential.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2064T>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	1.858	-0.463313	0.04476	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12465	2.7;2.68;2.68;2.68	4.84	-9.68	0.00528	.	1.192160	0.05691	N	0.592275	T	0.00967	0.0032	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40459	-0.9562	10	0.02654	T	1	.	0.0023	0.00000	0.2982:0.1994:0.2043:0.298	.	688;681	Q16363;Q16363-2	LAMA4_HUMAN;.	E	688;681;681;681	ENSP00000230538:D688E;ENSP00000429488:D681E;ENSP00000374114:D681E;ENSP00000416470:D681E	ENSP00000230538:D688E	D	-	3	2	LAMA4	112578515	0.002000	0.14202	0.005000	0.12908	0.870000	0.49936	-0.780000	0.04654	-2.083000	0.00867	-0.336000	0.08194	GAT		PASS	0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		9	73	9	73	---	---	---	---
NT5DC1	221294	broad.mit.edu	37	6	116544293	116544293	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:116544293C>A	ENST00000319550.4	+	8	883	c.801C>A	c.(799-801)ctC>ctA	p.L267L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	267							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L267L(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TCCGGACACTCGGTAAGTTAC	0.408																																					Colon(128;1440 1664 38087 41475 42869)	uc003pwj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)CTC>CTA		5'-nucleotidase, cytosolic II-like 1 protein							106.0	104.0	104.0					6																	116544293		2203	4300	6503	SO:0001630	splice_region_variant	221294						hydrolase activity|metal ion binding	g.chr6:116544293C>A	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.802+1C>A	6.37:g.116544293C>A						NT5DC1_uc003pwk.2_Silent_p.L259L|NT5DC1_uc003pwl.2_Silent_p.L217L	p.L267L	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	8	896	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	267					B2RND9|B3KR35|Q6XYD5	Silent	SNP	ENST00000319550.4	37	c.801C>A	CCDS5104.1																																																																																				PASS	0.408	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729	Silent	5	87	5	87	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117638307	117638307	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:117638307G>T	ENST00000368508.3	-	38	6332	c.6134C>A	c.(6133-6135)aCg>aAg	p.T2045K	ROS1_ENST00000368507.3_Splice_Site_p.T2039K|GOPC_ENST00000467125.1_5'Flank	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2045	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T2045K(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTGCCTACCGTTGCCATCCG	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6133-6135)ACG>AAG		proto-oncogene c-ros-1 protein precursor							125.0	117.0	120.0					6																	117638307		2203	4300	6503	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117638307G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6135+1C>A	6.37:g.117638307G>T						ROS1_uc011ebi.1_RNA	p.T2045K	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	38	6333	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2045			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6134C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.587940	0.00872	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.88896	-2.44;-2.44	5.31	-1.85	0.07784	.	0.530320	0.18311	N	0.145111	T	0.47266	0.1436	N	0.11724	0.165	0.19575	N	0.999965	B	0.06786	0.001	B	0.16289	0.015	T	0.54234	-0.8324	10	0.05351	T	0.99	.	5.183	0.15169	0.2249:0.0:0.3176:0.4574	.	2045	P08922	ROS1_HUMAN	K	2045;2039	ENSP00000357494:T2045K;ENSP00000357493:T2039K	ENSP00000357493:T2039K	T	-	2	0	ROS1	117745000	0.007000	0.16637	0.154000	0.22540	0.093000	0.18481	-0.446000	0.06837	-0.276000	0.09206	-0.794000	0.03295	ACG		PASS	0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Missense_Mutation	5	118	5	118	---	---	---	---
ASF1A	25842	broad.mit.edu	37	6	119222018	119222018	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:119222018C>A	ENST00000229595.5	+	2	391	c.197C>A	c.(196-198)cCc>cAc	p.P66H	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	66	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)	p.P66H(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GGTCCTGTTCCCGCAGGAAGG	0.343																																						uc011ebn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CCC>CAC		ASF1 anti-silencing function 1 homolog A							230.0	226.0	227.0					6																	119222018		1854	4094	5948	SO:0001583	missense	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119222018C>A	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.197C>A	6.37:g.119222018C>A	ENSP00000229595:p.Pro66His						p.P66H	NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	2	534	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	66			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Missense_Mutation	SNP	ENST00000229595.5	37	c.197C>A	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294736	0.95546	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.94021	3.485	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.87947	0.2721	9	0.72032	D	0.01	-7.8185	20.5792	0.99380	0.0:1.0:0.0:0.0	.	66	Q9Y294	ASF1A_HUMAN	H	66	.	ENSP00000229595:P66H	P	+	2	0	ASF1A	119263717	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC		PASS	0.343	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034		8	170	8	170	---	---	---	---
HSF2	3298	broad.mit.edu	37	6	122743330	122743330	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:122743330G>T	ENST00000368455.4	+	8	909	c.717G>T	c.(715-717)agG>agT	p.R239S	HSF2_ENST00000452194.1_Missense_Mutation_p.R239S	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	239					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R239S(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TAAAGCCAAGGGAGAGGATTT	0.313																																						uc003pyu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)AGG>AGT		heat shock transcription factor 2 isoform a							99.0	103.0	102.0					6																	122743330		2203	4297	6500	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122743330G>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.717G>T	6.37:g.122743330G>T	ENSP00000357440:p.Arg239Ser					HSF2_uc003pyv.2_Missense_Mutation_p.R239S	p.R239S	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	8	904	+			239					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.717G>T	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	G	4.279	0.051021	0.08243	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.65	1.17	0.20885	Vertebrate heat shock transcription factor (1);	0.245199	0.44902	D	0.000404	T	0.15912	0.0383	L	0.41236	1.265	0.39781	D	0.9723	B;P	0.35944	0.291;0.529	B;B	0.31869	0.061;0.137	T	0.25813	-1.0121	9	0.05833	T	0.94	-8.42	10.8122	0.46553	0.4366:0.0:0.5634:0.0	.	239;239	Q03933-2;Q03933	.;HSF2_HUMAN	S	239	.	ENSP00000357440:R239S	R	+	3	2	HSF2	122785029	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	0.644000	0.24766	-0.025000	0.13918	0.650000	0.86243	AGG		PASS	0.313	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		8	117	8	117	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959562	129959562	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:129959562G>T	ENST00000368149.2	-	3	617	c.529C>A	c.(529-531)Caa>Aaa	p.Q177K		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.Q177K(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TCTCTCTGTTGAGCAAATATG	0.383																																						uc003qbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(529-531)CAA>AAA		Rho GTPase activating protein 18							179.0	177.0	178.0					6																	129959562		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959562G>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.529C>A	6.37:g.129959562G>T	ENSP00000357131:p.Gln177Lys					ARHGAP18_uc011ebw.1_Missense_Mutation_p.Q177K	p.Q177K	NM_033515	NP_277050	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	618	-			177						Missense_Mutation	SNP	ENST00000368149.2	37	c.529C>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099554	0.20552	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.84	5.84	0.93424	.	0.116470	0.64402	D	0.000010	T	0.26702	0.0653	L	0.28274	0.84	0.45718	D	0.998621	P;B	0.40144	0.704;0.243	B;B	0.32022	0.139;0.119	T	0.07083	-1.0791	8	.	.	.	.	20.1579	0.98126	0.0:0.0:1.0:0.0	.	177;177	A9UK01;Q8N392	.;RHG18_HUMAN	K	132;177	.	.	Q	-	1	0	ARHGAP18	130001255	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.383000	0.59600	2.767000	0.95098	0.555000	0.69702	CAA		PASS	0.383	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		8	143	8	143	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132171156	132171156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:132171156G>T	ENST00000360971.2	+	3	360	c.340G>T	c.(340-342)Gag>Tag	p.E114*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	114	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.E62*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCGCTGTTTCGAGAGAACATT	0.383																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(340-342)GAG>TAG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						142.0	133.0	136.0					6																	132171156		2203	4300	6503	SO:0001587	stop_gained	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171156G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.340G>T	6.37:g.132171156G>T	ENSP00000354238:p.Glu114*						p.E114*	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	3	360	+	Breast(56;0.0505)		114			SMB 1.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Nonsense_Mutation	SNP	ENST00000360971.2	37	c.340G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	32	5.145558	0.94603	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.43	5.43	0.79202	.	0.273739	0.32190	N	0.006452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.2667	18.3772	0.90439	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000354238:E114X	E	+	1	0	ENPP1	132212849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.347000	0.73004	2.712000	0.92718	0.650000	0.86243	GAG		PASS	0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			7	91	7	91	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132203589	132203589	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:132203589G>T	ENST00000360971.2	+	21	2225	c.2205G>T	c.(2203-2205)gtG>gtT	p.V735V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	735	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.V683V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACACCAAAGTGAGTTACGGGT	0.383																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(2203-2205)GTG>GTT		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						110.0	114.0	113.0					6																	132203589		2203	4300	6503	SO:0001819	synonymous_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132203589G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2205G>T	6.37:g.132203589G>T							p.V735V	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2225	+	Breast(56;0.0505)		735			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	c.2205G>T	CCDS5150.2																																																																																				PASS	0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			7	115	7	115	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597355	136597355	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:136597355G>T	ENST00000531224.1	-	5	1560	c.1308C>A	c.(1306-1308)ctC>ctA	p.L436L	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Silent_p.L434L|BCLAF1_ENST00000527759.1_Silent_p.L434L|BCLAF1_ENST00000527536.1_Silent_p.L436L|BCLAF1_ENST00000392348.2_Silent_p.L434L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	436					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L436L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTTGTACTTGAGTCCTTCCT	0.393																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1306-1308)CTC>CTA		BCL2-associated transcription factor 1 isoform							187.0	185.0	186.0					6																	136597355		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597355G>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1308C>A	6.37:g.136597355G>T						BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.L434L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L434L	p.L436L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1561	-	Colorectal(23;0.24)		436					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1308C>A	CCDS5177.1																																																																																				PASS	0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		8	178	8	178	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597415	136597415	+	Silent	SNP	G	G	T	rs553855967		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:136597415G>T	ENST00000531224.1	-	5	1500	c.1248C>A	c.(1246-1248)ctC>ctA	p.L416L	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Silent_p.L414L|BCLAF1_ENST00000527759.1_Silent_p.L414L|BCLAF1_ENST00000527536.1_Silent_p.L416L|BCLAF1_ENST00000392348.2_Silent_p.L414L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	416					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L416L(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTGATCTGCGAGGACTGACT	0.418																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1246-1248)CTC>CTA		BCL2-associated transcription factor 1 isoform							284.0	278.0	280.0					6																	136597415		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597415G>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1248C>A	6.37:g.136597415G>T						BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.L414L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L414L	p.L416L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1501	-	Colorectal(23;0.24)		416					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1248C>A	CCDS5177.1																																																																																				PASS	0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		8	250	8	250	---	---	---	---
HEBP2	23593	broad.mit.edu	37	6	138727204	138727204	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:138727204C>A	ENST00000607197.1	+	3	612	c.335C>A	c.(334-336)cCc>cAc	p.P112H	HEBP2_ENST00000367697.3_Intron|HEBP2_ENST00000448741.1_Intron	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	112					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.P112H(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CTGTATATTCCCTCTGAACAG	0.428																																						uc003qhw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)CCC>CAC		heme binding protein 2							181.0	173.0	176.0					6																	138727204		2203	4300	6503	SO:0001583	missense	23593					mitochondrion		g.chr6:138727204C>A	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.335C>A	6.37:g.138727204C>A	ENSP00000475750:p.Pro112His						p.P112H	NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	3	632	+	Breast(32;0.0933)		112					Q96P57	Missense_Mutation	SNP	ENST00000607197.1	37	c.335C>A	CCDS5191.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010936	0.75046	.	.	ENSG00000051620	ENST00000058691	T	0.64803	-0.12	5.33	5.33	0.75918	Regulatory factor, effector, bacterial (1);	0.049021	0.85682	D	0.000000	T	0.81413	0.4817	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85691	0.1307	9	.	.	.	.	15.9103	0.79467	0.0:1.0:0.0:0.0	.	112	Q9Y5Z4	HEBP2_HUMAN	H	112	ENSP00000058691:P112H	.	P	+	2	0	HEBP2	138768897	0.998000	0.40836	0.792000	0.32020	0.890000	0.51754	5.392000	0.66272	2.498000	0.84270	0.491000	0.48974	CCC		PASS	0.428	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			8	95	8	95	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148865881	148865881	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:148865881A>T	ENST00000367467.3	+	18	3750	c.3275A>T	c.(3274-3276)gAt>gTt	p.D1092V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1092					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.D1092V(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGGGAGTGGATCTAGAAACG	0.587																																						uc003qme.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3274-3276)GAT>GTT		SAM and SH3 domain containing 1							31.0	31.0	31.0					6																	148865881		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865881A>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3275A>T	6.37:g.148865881A>T	ENSP00000356437:p.Asp1092Val					SASH1_uc011eeb.1_Missense_Mutation_p.D853V|SASH1_uc003qmf.1_Missense_Mutation_p.D502V	p.D1092V	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3750	+		Ovarian(120;0.0169)	1092					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3275A>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320060	0.81469	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.47177	0.85	5.11	5.11	0.69529	.	0.140869	0.64402	D	0.000005	T	0.48519	0.1504	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.95	T	0.56341	-0.7995	10	0.87932	D	0	-18.9172	14.9056	0.70715	1.0:0.0:0.0:0.0	.	1073;1092	Q6P4R9;O94885	.;SASH1_HUMAN	V	1092;502	ENSP00000356437:D1092V	ENSP00000356437:D1092V	D	+	2	0	SASH1	148907574	1.000000	0.71417	0.173000	0.22940	0.964000	0.63967	5.762000	0.68809	1.929000	0.55896	0.533000	0.62120	GAT		PASS	0.587	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	6	4	6	---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149959644	149959644	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:149959644G>T	ENST00000335647.5	-	1	84	c.40C>A	c.(40-42)Cgt>Agt	p.R14S	KATNA1_ENST00000335643.8_Missense_Mutation_p.R14S|KATNA1_ENST00000367411.2_Missense_Mutation_p.R14S					katanin p60 (ATPase containing) subunit A 1									p.R14S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GCATATTCACGAGCCAATTTT	0.348																																						uc003qmr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(40-42)CGT>AGT		katanin p60 subunit A 1							169.0	175.0	173.0					6																	149959644		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149959644G>T	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.40C>A	6.37:g.149959644G>T	ENSP00000335106:p.Arg14Ser					KATNA1_uc003qms.2_Missense_Mutation_p.R14S|KATNA1_uc003qmt.2_Missense_Mutation_p.R14S|KATNA1_uc011eed.1_Missense_Mutation_p.R14S	p.R14S	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	1	85	-		Ovarian(120;0.0164)	14			Interaction with microtubule.|Interaction with KATNB1.			Missense_Mutation	SNP	ENST00000335647.5	37	c.40C>A	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243154	0.95272	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.992;1.0	T	0.56214	-0.8016	9	.	.	.	.	20.0174	0.97485	0.0:0.0:1.0:0.0	.	14;14;14	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	S	14	ENSP00000335106:R14S;ENSP00000335180:R14S;ENSP00000356381:R14S;ENSP00000390322:R14S;ENSP00000398993:R14S	.	R	-	1	0	KATNA1	150001337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.493000	0.81493	2.730000	0.93505	0.650000	0.86243	CGT		PASS	0.348	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		8	167	8	167	---	---	---	---
ULBP3	79465	broad.mit.edu	37	6	150385786	150385786	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:150385786C>A	ENST00000367339.2	-	4	720	c.692G>T	c.(691-693)tGg>tTg	p.W231L	ULBP3_ENST00000438272.2_Missense_Mutation_p.W231L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	231					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.W231L(1)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GAGGAAGCTCCAGGGACTGAG	0.532																																						uc003qns.3																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)TGG>TTG		UL16 binding protein 3 precursor							240.0	201.0	214.0					6																	150385786		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150385786C>A	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.692G>T	6.37:g.150385786C>A	ENSP00000356308:p.Trp231Leu					ULBP3_uc011eej.1_Missense_Mutation_p.W106L	p.W231L	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	4	692	-		Ovarian(120;0.12)	231					Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.692G>T	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175234	0.38413	.	.	ENSG00000131019	ENST00000367339;ENST00000438272	T;T	0.00666	5.91;5.91	2.9	-3.19	0.05171	.	.	.	.	.	T	0.00608	0.0020	L	0.56769	1.78	0.09310	N	1	D	0.54772	0.968	P	0.56788	0.806	T	0.44498	-0.9324	9	0.87932	D	0	12.4947	1.6423	0.02755	0.3271:0.2347:0.323:0.1152	.	231	Q9BZM4	N2DL3_HUMAN	L	231	ENSP00000356308:W231L;ENSP00000403562:W231L	ENSP00000356308:W231L	W	-	2	0	ULBP3	150427479	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.358000	0.07641	-0.837000	0.04223	0.491000	0.48974	TGG		PASS	0.532	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			6	60	6	60	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151894542	151894542	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:151894542C>A	ENST00000239374.7	+	6	1107	c.1008C>A	c.(1006-1008)ggC>ggA	p.G336G	CCDC170_ENST00000367290.5_Silent_p.G336G	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	336								p.G336G(1)									TCCTTAGGGGCAGATTGAGCA	0.522																																						uc003qol.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)GGC>GGA		hypothetical protein LOC80129							71.0	74.0	73.0					6																	151894542		1968	4135	6103	SO:0001819	synonymous_variant	80129							g.chr6:151894542C>A	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.1008C>A	6.37:g.151894542C>A							p.G336G	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	6	1097	+		Ovarian(120;0.126)	336					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1008C>A	CCDS43515.1																																																																																				PASS	0.522	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		14	47	14	47	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154412160	154412160	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:154412160C>A	ENST00000330432.7	+	3	954	c.717C>A	c.(715-717)ttC>ttA	p.F239L	OPRM1_ENST00000452687.2_Missense_Mutation_p.F239L|OPRM1_ENST00000229768.5_Missense_Mutation_p.F239L|OPRM1_ENST00000434900.2_Missense_Mutation_p.F332L|OPRM1_ENST00000522555.1_Missense_Mutation_p.F139L|OPRM1_ENST00000360422.4_Missense_Mutation_p.F239L|OPRM1_ENST00000435918.2_Missense_Mutation_p.F239L|OPRM1_ENST00000520708.1_Missense_Mutation_p.F139L|OPRM1_ENST00000337049.4_Missense_Mutation_p.F239L|OPRM1_ENST00000522236.1_Missense_Mutation_p.F139L|OPRM1_ENST00000428397.2_Missense_Mutation_p.F239L|OPRM1_ENST00000524163.1_Missense_Mutation_p.F239L|OPRM1_ENST00000414028.2_Missense_Mutation_p.F239L|OPRM1_ENST00000419506.2_Missense_Mutation_p.F239L|OPRM1_ENST00000518759.1_Missense_Mutation_p.F158L	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	239					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|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 cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.F239L(2)|p.F332L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCTGTGTTTTCATCTTCGCCT	0.433																																						uc003qpr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(715-717)TTC>TTA		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						188.0	178.0	181.0					6																	154412160		2042	4219	6261	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412160C>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.717C>A	6.37:g.154412160C>A	ENSP00000328264:p.Phe239Leu					OPRM1_uc011efc.1_Missense_Mutation_p.F158L|OPRM1_uc011efd.1_Missense_Mutation_p.F139L|OPRM1_uc011efe.1_Missense_Mutation_p.F332L|OPRM1_uc003qpn.2_Missense_Mutation_p.F239L|OPRM1_uc003qpo.1_Missense_Mutation_p.F239L|OPRM1_uc011eff.1_Missense_Mutation_p.F239L|OPRM1_uc011efg.1_Missense_Mutation_p.F239L|OPRM1_uc011efh.1_Missense_Mutation_p.F239L|OPRM1_uc003qpq.1_Missense_Mutation_p.F239L|OPRM1_uc003qpt.1_Missense_Mutation_p.F239L|OPRM1_uc011efi.1_Missense_Mutation_p.F239L|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.F139L|OPRM1_uc003qpu.2_Missense_Mutation_p.F139L	p.F239L	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	954	+		Ovarian(120;0.196)	239			Helical; Name=5; (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.717C>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282525	0.80692	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.82	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.73753	2.245	0.53688	D	0.999973	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.994;1.0;1.0;0.999;1.0;1.0;0.997;1.0;1.0	T	0.82762	-0.0297	10	0.87932	D	0	.	13.1607	0.59542	0.0:0.866:0.0:0.134	.	239;239;239;239;332;158;139;239;239;239;239;239	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	L	332;139;158;239;239;239;239;239;239;239;239;239;239;139;139	ENSP00000394624:F332L;ENSP00000430876:F139L;ENSP00000430260:F158L;ENSP00000328264:F239L;ENSP00000353598:F239L;ENSP00000411903:F239L;ENSP00000410497:F239L;ENSP00000229768:F239L;ENSP00000403549:F239L;ENSP00000430097:F239L;ENSP00000399359:F239L;ENSP00000413752:F239L;ENSP00000338381:F239L;ENSP00000429719:F139L;ENSP00000429373:F139L	ENSP00000229768:F239L	F	+	3	2	OPRM1	154453853	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.326000	0.52037	1.436000	0.47453	0.650000	0.86243	TTC		PASS	0.433	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		7	96	7	96	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161012070	161012070	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:161012070C>A	ENST00000316300.5	-	23	3737	c.3693G>T	c.(3691-3693)atG>atT	p.M1231I	LPA_ENST00000447678.1_Missense_Mutation_p.M1231I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3739	Kringle 11. {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.M1231I(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)	CATTGGGATCCATGGTATAAC	0.468																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3691-3693)ATG>ATT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						101.0	101.0	101.0					6																	161012070		2191	4300	6491	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.chr6:161012070C>A	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.3693G>T	6.37:g.161012070C>A	ENSP00000321334:p.Met1231Ile						p.M1231I	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	24	3813	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3739			Kringle 33.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3693G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	7.382	0.628926	0.14257	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65732	-0.17;-0.17	2.23	-4.46	0.03536	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.35885	0.0947	L	0.28556	0.865	0.21105	N	0.999781	P	0.42456	0.78	P	0.60236	0.871	T	0.35325	-0.9793	9	0.22706	T	0.39	.	0.9246	0.01322	0.3227:0.3008:0.2305:0.1459	.	3739	P08519	APOA_HUMAN	I	1231	ENSP00000321334:M1231I;ENSP00000395608:M1231I	ENSP00000321334:M1231I	M	-	3	0	LPA	160932060	0.000000	0.05858	0.594000	0.28785	0.320000	0.28249	-5.698000	0.00104	-1.087000	0.03081	0.205000	0.17691	ATG		PASS	0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	32	5	32	---	---	---	---
QKI	9444	broad.mit.edu	37	6	163836265	163836265	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:163836265A>T	ENST00000361752.3	+	1	591	c.40A>T	c.(40-42)Acc>Tcc	p.T14S	QKI_ENST00000424802.3_Missense_Mutation_p.T14S|QKI_ENST00000361195.2_Missense_Mutation_p.T14S|QKI_ENST00000275262.7_Missense_Mutation_p.T14S|QKI_ENST00000453779.2_Missense_Mutation_p.T14S|CAHM_ENST00000604200.1_lincRNA|QKI_ENST00000392127.2_Missense_Mutation_p.T14S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	14					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T14S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCCGAAGCCCACCCCAGATTA	0.632																																						uc003qui.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(40-42)ACC>TCC		quaking homolog, KH domain RNA binding isoform							91.0	89.0	90.0					6																	163836265		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163836265A>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.40A>T	6.37:g.163836265A>T	ENSP00000355094:p.Thr14Ser					QKI_uc003que.2_Missense_Mutation_p.T14S|QKI_uc003quf.2_Missense_Mutation_p.T14S|QKI_uc003qug.2_Missense_Mutation_p.T14S|QKI_uc003quh.2_Missense_Mutation_p.T14S|QKI_uc003quj.2_Missense_Mutation_p.T14S	p.T14S	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	1	591	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	14					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.40A>T	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	a	7.380	0.628633	0.14257	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802	.	.	.	2.05	0.734	0.18294	.	0.206529	0.40222	U	0.001142	T	0.11965	0.0291	N	0.14661	0.345	0.36267	D	0.854925	B;B;B;B;B;B	0.15930	0.001;0.001;0.015;0.015;0.009;0.002	B;B;B;B;B;B	0.16289	0.005;0.004;0.015;0.015;0.015;0.005	T	0.11372	-1.0590	9	0.13470	T	0.59	0.1324	7.877	0.29599	0.7892:0.2108:0.0:0.0	.	14;14;14;14;14;14	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	S	14	.	ENSP00000275262:T14S	T	+	1	0	QKI	163756255	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	3.501000	0.53325	0.052000	0.16007	0.348000	0.21847	ACC		PASS	0.632	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		6	33	6	33	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627566	170627566	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr6:170627566G>T	ENST00000476287.1	+	2	1196	c.1088G>T	c.(1087-1089)cGa>cTa	p.R363L	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.R386L|FAM120B_ENST00000540480.1_Missense_Mutation_p.R375L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	363					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R363L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAATCCAGGCGAGAAGTTCCC	0.522																																						uc003qxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1087-1089)CGA>CTA		family with sequence similarity 120B																																				SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627566G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1088G>T	6.37:g.170627566G>T	ENSP00000417970:p.Arg363Leu					FAM120B_uc003qxo.1_Missense_Mutation_p.R363L|FAM120B_uc011ehd.1_Intron	p.R363L	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1196	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	363					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1088G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	7.911	0.736403	0.15574	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08807	3.05;3.05;3.05	3.06	-6.11	0.02131	.	0.887861	0.09972	N	0.732143	T	0.00754	0.0025	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.47114	-0.9142	10	0.32370	T	0.25	-1.1146	0.2418	0.00193	0.2183:0.27:0.2124:0.2993	.	363;363	Q96EK7;F2Z2E1	F120B_HUMAN;.	L	375;386;363	ENSP00000444125:R375L;ENSP00000440125:R386L;ENSP00000417970:R363L	ENSP00000436640:R363L	R	+	2	0	FAM120B	170469491	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.613000	0.02059	-1.275000	0.02417	-0.431000	0.05894	CGA		PASS	0.522	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		6	101	6	101	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5391687	5391687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:5391687C>A	ENST00000430969.1	-	17	5581	c.5233G>T	c.(5233-5235)Gag>Tag	p.E1745*	TNRC18_ENST00000399537.4_Nonsense_Mutation_p.E1745*	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1745							chromatin binding (GO:0003682)	p.E1745*(2)|p.E800*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCGGGCCACTCGTCCTTCAGG	0.537																																						uc003soi.3																			3	Substitution - Nonsense(3)		lung(3)		0						c.(5233-5235)GAG>TAG		trinucleotide repeat containing 18							40.0	37.0	38.0					7																	5391687		1568	3582	5150	SO:0001587	stop_gained	84629						DNA binding	g.chr7:5391687C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5233G>T	7.37:g.5391687C>A	ENSP00000395538:p.Glu1745*					TNRC18_uc003soj.2_Nonsense_Mutation_p.E127*	p.E1745*	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5582	-		Ovarian(82;0.142)	1745					A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	ENST00000430969.1	37	c.5233G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.971081	0.74246	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	.	.	.	4.99	4.1	0.47936	.	0.000000	0.36972	N	0.002307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.9189	0.70818	0.1439:0.8561:0.0:0.0	.	.	.	.	X	1745;1745;800;235	.	ENSP00000382452:E1745X	E	-	1	0	TNRC18	5358213	0.998000	0.40836	0.983000	0.44433	0.992000	0.81027	4.125000	0.57931	1.094000	0.41399	0.556000	0.70494	GAG		PASS	0.537	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	20	4	20	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7572456	7572456	+	Silent	SNP	C	C	A	rs371623030		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:7572456C>A	ENST00000399429.3	-	2	191	c.51G>T	c.(49-51)acG>acT	p.T17T		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	17					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.T17T(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)		CTGTTTGACTCGTAAACGCTG	0.338																																						uc003src.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(49-51)ACG>ACT		collagen, type XXVIII precursor							138.0	127.0	130.0					7																	7572456		1859	4110	5969	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7572456C>A	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.51G>T	7.37:g.7572456C>A						COL28A1_uc011jxe.1_5'UTR	p.T17T	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	2	168	-		Ovarian(82;0.0789)	17					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.51G>T	CCDS43553.1																																																																																				PASS	0.338	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		9	205	9	205	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7628158	7628158	+	Silent	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:7628158A>G	ENST00000340080.4	+	8	2269	c.1848A>G	c.(1846-1848)agA>agG	p.R616R	MIOS_ENST00000405785.1_Silent_p.R616R	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	616						lysosomal membrane (GO:0005765)		p.R616R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACGTGACAGAGTGGCATTTG	0.343																																						uc003srf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1846-1848)AGA>AGG		missing oocyte, meiosis regulator, homolog							100.0	99.0	99.0					7																	7628158		1855	4099	5954	SO:0001819	synonymous_variant	54468							g.chr7:7628158A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1848A>G	7.37:g.7628158A>G						MIOS_uc003srg.2_Silent_p.R151R|MIOS_uc010ktq.2_Missense_Mutation_p.E14G	p.R616R	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			8	2156	+			616					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.1848A>G	CCDS43554.1																																																																																				PASS	0.343	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		22	108	22	108	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13949310	13949310	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:13949310T>C	ENST00000430479.1	-	11	1554	c.887A>G	c.(886-888)aAg>aGg	p.K296R	ETV1_ENST00000405358.4_Missense_Mutation_p.K310R|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000343495.5_Missense_Mutation_p.K278R|ETV1_ENST00000420159.2_Missense_Mutation_p.K238R|ETV1_ENST00000399357.3_Missense_Mutation_p.K193R|ETV1_ENST00000403527.1_Missense_Mutation_p.K256R|ETV1_ENST00000403685.1_Missense_Mutation_p.K278R|ETV1_ENST00000242066.5_Missense_Mutation_p.K278R|ETV1_ENST00000405218.2_Missense_Mutation_p.K296R|ETV1_ENST00000405192.2_Missense_Mutation_p.K273R	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	296					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K256R(1)|p.K296R(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGGGCCCTTTTCAAACAT	0.343			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	2	Substitution - Missense(2)		lung(2)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(886-888)AAG>AGG		ets variant gene 1 isoform a							100.0	99.0	99.0					7																	13949310		1806	4074	5880	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13949310T>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.887A>G	7.37:g.13949310T>C	ENSP00000405327:p.Lys296Arg					ETV1_uc011jxn.1_Missense_Mutation_p.K256R|ETV1_uc011jxo.1_Missense_Mutation_p.K193R|ETV1_uc011jxp.1_Missense_Mutation_p.K238R|ETV1_uc003ssw.3_Missense_Mutation_p.K273R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.K278R|ETV1_uc011jxs.1_Missense_Mutation_p.K278R|ETV1_uc010ktv.2_Missense_Mutation_p.R165G	p.K296R	NM_004956	NP_004947	P50549	ETV1_HUMAN			11	1626	-			296					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.887A>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.842521	0.71488	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.98	5.98	0.97165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.438355	0.28031	N	0.016867	T	0.45418	0.1341	L	0.46741	1.465	0.58432	D	0.999999	P;B;D;D;D;D;B	0.63046	0.955;0.044;0.979;0.99;0.99;0.992;0.055	P;B;P;D;D;D;B	0.83275	0.675;0.03;0.76;0.979;0.996;0.987;0.075	T	0.16630	-1.0396	10	0.37606	T	0.19	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	284;278;310;238;193;256;296	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	R	296;278;278;238;193;273;310;256;296;278;238	ENSP00000405327:K296R;ENSP00000242066:K278R;ENSP00000340853:K278R;ENSP00000411626:K238R;ENSP00000382293:K193R;ENSP00000385381:K273R;ENSP00000384085:K310R;ENSP00000384138:K256R;ENSP00000385551:K296R;ENSP00000385686:K278R;ENSP00000393078:K238R	ENSP00000242066:K278R	K	-	2	0	ETV1	13915835	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	6.247000	0.72411	2.289000	0.77006	0.482000	0.46254	AAG		PASS	0.343	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		4	203	4	203	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15427143	15427143	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:15427143C>A	ENST00000342526.3	-	9	1014	c.845G>T	c.(844-846)tGg>tTg	p.W282L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	282					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.W282L(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAATGTAGTCCATATGGAAAA	0.343																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)TGG>TTG		transmembrane protein 195							66.0	72.0	70.0					7																	15427143		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15427143C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.845G>T	7.37:g.15427143C>A	ENSP00000341662:p.Trp282Leu						p.W282L	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			9	1015	-			282					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.845G>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532667	0.45073	.	.	ENSG00000187546	ENST00000342526	T	0.28666	1.6	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.38953	1.18	0.58432	D	0.99999	B	0.17667	0.023	B	0.20184	0.028	T	0.11299	-1.0593	10	0.06625	T	0.88	-11.451	19.4557	0.94886	0.0:1.0:0.0:0.0	.	282	Q6ZNB7	ALKMO_HUMAN	L	282	ENSP00000341662:W282L	ENSP00000341662:W282L	W	-	2	0	AGMO	15393668	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.920000	0.70017	2.599000	0.87857	0.655000	0.94253	TGG		PASS	0.343	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		7	127	7	127	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18688187	18688187	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:18688187A>G	ENST00000432645.2	+	10	1339	c.1339A>G	c.(1339-1341)Aac>Gac	p.N447D	HDAC9_ENST00000406451.4_Missense_Mutation_p.N447D|HDAC9_ENST00000428307.2_Missense_Mutation_p.N403D|HDAC9_ENST00000441542.2_Missense_Mutation_p.N450D|HDAC9_ENST00000406072.1_Missense_Mutation_p.N434D|HDAC9_ENST00000456174.2_Missense_Mutation_p.N419D|HDAC9_ENST00000524023.1_Missense_Mutation_p.N370D|HDAC9_ENST00000401921.1_Missense_Mutation_p.N406D|HDAC9_ENST00000417496.2_Missense_Mutation_p.N445D|HDAC9_ENST00000405010.3_Missense_Mutation_p.N447D	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	447					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.N450D(2)|p.N445D(1)|p.N447D(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGACCCCTGAACCGAACCCA	0.512																																						uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1339-1341)AAC>GAC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						78.0	79.0	79.0					7																	18688187		1966	4133	6099	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688187A>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1339A>G	7.37:g.18688187A>G	ENSP00000410337:p.Asn447Asp					HDAC9_uc003sue.2_Missense_Mutation_p.N447D|HDAC9_uc011jyd.1_Missense_Mutation_p.N447D|HDAC9_uc003sui.2_Missense_Mutation_p.N450D|HDAC9_uc003suj.2_Missense_Mutation_p.N406D|HDAC9_uc011jya.1_Missense_Mutation_p.N444D|HDAC9_uc003sua.1_Missense_Mutation_p.N425D|HDAC9_uc011jyb.1_Missense_Mutation_p.N403D|HDAC9_uc003sud.1_Missense_Mutation_p.N447D|HDAC9_uc011jyc.1_Missense_Mutation_p.N406D|HDAC9_uc003suf.1_Missense_Mutation_p.N478D|HDAC9_uc010kud.1_Missense_Mutation_p.N450D|HDAC9_uc011jye.1_Missense_Mutation_p.N419D|HDAC9_uc011jyf.1_Missense_Mutation_p.N370D|HDAC9_uc010kue.1_Missense_Mutation_p.N190D	p.N447D	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			10	1380	+	all_lung(11;0.187)		447					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1339A>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671754	0.67928	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.58652	0.87;0.92;0.35;0.88;0.88;0.32;0.35;0.35;0.91;0.88	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000010	T	0.69602	0.3129	L	0.54323	1.7	0.50313	D	0.999861	P;P;D;D;P;D;P;D;D;D;P;D;D;D	0.69078	0.849;0.877;0.964;0.995;0.849;0.964;0.799;0.99;0.996;0.988;0.799;0.996;0.971;0.997	B;B;P;P;B;P;B;D;P;P;B;P;P;D	0.73380	0.321;0.411;0.52;0.776;0.321;0.52;0.197;0.979;0.789;0.519;0.197;0.789;0.616;0.98	T	0.71823	-0.4476	10	0.62326	D	0.03	-32.8565	11.5535	0.50733	0.8507:0.1493:0.0:0.0	.	370;419;447;434;445;447;450;406;450;447;419;447;447;425	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	D	445;448;447;447;403;434;406;447;450;419;370;447	ENSP00000401669:N445D;ENSP00000384382:N447D;ENSP00000384657:N447D;ENSP00000395655:N403D;ENSP00000384017:N434D;ENSP00000383912:N406D;ENSP00000410337:N447D;ENSP00000408617:N450D;ENSP00000388568:N419D;ENSP00000430036:N370D	ENSP00000262069:N448D	N	+	1	0	HDAC9	18654712	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.742000	0.74843	2.089000	0.63090	0.455000	0.32223	AAC		PASS	0.512	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			13	44	13	44	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:20683155C>A	ENST00000404938.2	+	7	1230	c.578C>A	c.(577-579)tCg>tAg	p.S193*		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	193	ABC transmembrane type-1 1. {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.S193L(1)|p.S193*(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						TCTACTTTTTCGATTGGCCTG	0.423																																						uc010kuh.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(577-579)TCG>TAG		ATP-binding cassette, sub-family B, member 5							188.0	164.0	171.0					7																	20683155		1568	3582	5150	SO:0001587	stop_gained	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.chr7:20683155C>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.578C>A	7.37:g.20683155C>A	ENSP00000384881:p.Ser193*						p.S193*	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN			7	815	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.578C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341388	0.98224	.	.	ENSG00000004846	ENST00000404938	.	.	.	3.85	2.05	0.26809	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.7219	0.17992	0.0:0.6658:0.0:0.3342	.	.	.	.	X	193	.	ENSP00000384881:S193X	S	+	2	0	ABCB5	20649680	0.656000	0.27385	0.525000	0.27900	0.121000	0.20230	2.809000	0.47971	0.601000	0.29879	-0.244000	0.11960	TCG		PASS	0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	125	5	125	---	---	---	---
IL6	3569	broad.mit.edu	37	7	22767125	22767125	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:22767125G>T	ENST00000404625.1	+	3	541	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	IL6_ENST00000401651.1_Intron|IL6_ENST00000407492.1_Intron|IL6_ENST00000258743.5_Missense_Mutation_p.A28S|IL6_ENST00000406575.1_Missense_Mutation_p.A28S|IL6_ENST00000401630.3_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000420258.2_Missense_Mutation_p.A82S			P05231	IL6_HUMAN	interleukin 6	28					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.A28S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	TGCCTTCCCTGCCCCAGTACC	0.597																																					Esophageal Squamous(47;342 1214 13936 33513)	uc011jyn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GCC>TCC		interleukin 6 precursor	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						60.0	62.0	61.0					7																	22767125		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22767125G>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.82G>T	7.37:g.22767125G>T	ENSP00000385675:p.Ala28Ser					uc010kun.1_Intron|IL6_uc011jyo.1_Missense_Mutation_p.A28S|IL6_uc011jyp.1_Intron|IL6_uc003svj.3_Missense_Mutation_p.A28S|IL6_uc011jyq.1_Missense_Mutation_p.A82S	p.A28S	NM_000600	NP_000591	P05231	IL6_HUMAN			3	541	+			28					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.82G>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016657	0.35606	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000406575	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;0.82;-0.93	5.62	3.29	0.37713	.	0.410931	0.30830	N	0.008781	T	0.57213	0.2038	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30973	0.077;0.302;0.176	B;B;B	0.26770	0.028;0.073;0.028	T	0.46247	-0.9205	10	0.37606	T	0.19	-9.9549	6.9706	0.24646	0.8146:0.0:0.1854:0.0	.	82;28;28	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	S	28;28;28;82;28	ENSP00000385675:A28S;ENSP00000405150:A28S;ENSP00000258743:A28S;ENSP00000405994:A82S;ENSP00000385227:A28S	ENSP00000258743:A28S	A	+	1	0	IL6	22733650	0.019000	0.18553	0.038000	0.18304	0.002000	0.02628	1.157000	0.31724	0.518000	0.28383	-0.378000	0.06908	GCC		PASS	0.597	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		7	29	7	29	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23180511	23180511	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:23180511G>T	ENST00000339077.5	+	5	809	c.566G>T	c.(565-567)cGa>cTa	p.R189L	KLHL7_ENST00000545443.1_Missense_Mutation_p.R167L|KLHL7_ENST00000322231.7_Missense_Mutation_p.R167L|KLHL7_ENST00000409689.1_Missense_Mutation_p.R141L|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.R113L	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	189	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R167L(1)|p.R189L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATGTCAAGCGAGTAACACAT	0.363																																						uc003svs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(565-567)CGA>CTA		kelch-like 7 isoform 1							117.0	112.0	114.0					7																	23180511		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180511G>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.566G>T	7.37:g.23180511G>T	ENSP00000343273:p.Arg189Leu					KLHL7_uc003svr.3_Missense_Mutation_p.R167L|KLHL7_uc011jys.1_Missense_Mutation_p.R113L|KLHL7_uc011jyt.1_5'UTR|KLHL7_uc003svt.2_Missense_Mutation_p.R141L|KLHL7_uc011jyv.1_5'UTR	p.R189L	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			5	859	+			189					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.566G>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579159	0.65878	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.39	5.39	0.77823	BTB/Kelch-associated (2);	0.123405	0.56097	D	0.000022	T	0.57315	0.2045	N	0.21142	0.635	0.80722	D	1	B;B	0.23490	0.086;0.07	B;B	0.20955	0.032;0.019	T	0.56595	-0.7953	10	0.87932	D	0	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	189;167	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	L	155;167;189;113;141;167	ENSP00000322958:R167L;ENSP00000343273:R189L;ENSP00000441136:R113L;ENSP00000386263:R141L;ENSP00000442366:R167L	ENSP00000322958:R167L	R	+	2	0	KLHL7	23147036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.867000	0.75511	2.683000	0.91414	0.591000	0.81541	CGA		PASS	0.363	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		7	101	7	101	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23296619	23296619	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:23296619G>T	ENST00000381990.2	+	4	637	c.476G>T	c.(475-477)gGg>gTg	p.G159V	GPNMB_ENST00000258733.4_Missense_Mutation_p.G159V|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000539136.1_Missense_Mutation_p.G60V|GPNMB_ENST00000409458.3_Missense_Mutation_p.G159V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	159					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.G159V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTCCCTGATGGGAAACCTTTT	0.478																																						uc003swc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(475-477)GGG>GTG		glycoprotein (transmembrane) nmb isoform a							133.0	115.0	121.0					7																	23296619		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23296619G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.476G>T	7.37:g.23296619G>T	ENSP00000371420:p.Gly159Val					GPNMB_uc003swa.2_Missense_Mutation_p.G159V|GPNMB_uc003swb.2_Missense_Mutation_p.G159V|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.G60V	p.G159V	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	637	+			159			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.476G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193267	0.94960	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.29	5.29	0.74685	.	0.075661	0.56097	D	0.000039	T	0.53498	0.1800	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	0.991;0.985;1.0;0.999	P;P;D;D	0.77557	0.885;0.823;0.99;0.968	T	0.60239	-0.7302	10	0.87932	D	0	-3.515	19.2997	0.94140	0.0:0.0:1.0:0.0	.	60;159;159;159	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	V	159;194;159;159;60	ENSP00000258733:G159V;ENSP00000371420:G159V;ENSP00000386476:G159V;ENSP00000445266:G60V	ENSP00000258733:G159V	G	+	2	0	GPNMB	23263144	1.000000	0.71417	0.072000	0.20136	0.186000	0.23388	8.479000	0.90431	2.627000	0.88993	0.655000	0.94253	GGG		PASS	0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		7	116	7	116	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23794014	23794014	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:23794014C>A	ENST00000355870.3	+	10	1333	c.1214C>A	c.(1213-1215)cCa>cAa	p.P405Q	STK31_ENST00000354639.3_Missense_Mutation_p.P382Q|STK31_ENST00000433467.2_Missense_Mutation_p.P405Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.P382Q	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	405						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.P405Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTACTACTCCAGCTTCTTTG	0.378																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1213-1215)CCA>CAA		serine/threonine kinase 31 isoform a							166.0	164.0	165.0					7																	23794014		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23794014C>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1214C>A	7.37:g.23794014C>A	ENSP00000348132:p.Pro405Gln					STK31_uc003swt.3_Missense_Mutation_p.P382Q|STK31_uc011jze.1_Missense_Mutation_p.P405Q|STK31_uc010kuq.2_Missense_Mutation_p.P382Q	p.P405Q	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			10	1281	+			405					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1214C>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198507	0.58126	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.96	3.99	0.46301	.	0.066483	0.64402	D	0.000013	T	0.29389	0.0732	M	0.63843	1.955	0.09310	N	0.999992	D;D	0.60575	0.988;0.988	P;P	0.55222	0.771;0.771	T	0.08889	-1.0700	10	0.72032	D	0.01	-0.1412	9.8907	0.41288	0.0:0.8722:0.0:0.1278	.	405;405	B4DZ06;Q9BXU1	.;STK31_HUMAN	Q	405;405;382;382	ENSP00000348132:P405Q;ENSP00000411852:P405Q;ENSP00000346660:P382Q;ENSP00000406146:P382Q	ENSP00000346660:P382Q	P	+	2	0	STK31	23760539	0.394000	0.25246	0.269000	0.24586	0.693000	0.40251	2.980000	0.49321	0.641000	0.30601	0.585000	0.79938	CCA		PASS	0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		11	188	11	188	---	---	---	---
NPY	4852	broad.mit.edu	37	7	24329197	24329197	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:24329197C>A	ENST00000407573.1	+	4	558	c.268C>A	c.(268-270)Cgg>Agg	p.R90R	NPY_ENST00000242152.2_Splice_Site_p.R90R|NPY_ENST00000405982.1_Splice_Site_p.R90R			P01303	NPY_HUMAN	neuropeptide Y	90					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.R90R(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCAGAACTCGGTATGACAA	0.493																																						uc003sww.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)CGG>AGG		neuropeptide Y precursor							102.0	94.0	97.0					7																	24329197		2203	4300	6503	SO:0001630	splice_region_variant	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329197C>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.269+1C>A	7.37:g.24329197C>A							p.R90R	NM_000905	NP_000896	P01303	NPY_HUMAN			3	354	+			90						Silent	SNP	ENST00000407573.1	37	c.268C>A	CCDS5387.1																																																																																				PASS	0.493	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905	Silent	5	75	5	75	---	---	---	---
HOXA6	3203	broad.mit.edu	37	7	27187272	27187272	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:27187272C>T	ENST00000222728.3	-	1	121	c.97G>A	c.(97-99)Gac>Aac	p.D33N	HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA6_ENST00000521478.1_Intron|RP1-170O19.23_ENST00000498652.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	33					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D33N(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CTCAGCGCGTCATAGCCAGCC	0.607																																						uc003syo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(97-99)GAC>AAC		homeobox A6							37.0	40.0	39.0					7																	27187272		2203	4300	6503	SO:0001583	missense	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27187272C>T		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.97G>A	7.37:g.27187272C>T	ENSP00000222728:p.Asp33Asn					uc003syp.1_Intron|HOXA6_uc003syq.1_Intron	p.D33N	NM_024014	NP_076919	P31267	HXA6_HUMAN			1	97	-			33					A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	c.97G>A	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.332086	0.81801	.	.	ENSG00000106006	ENST00000222728	D	0.91068	-2.78	5.09	5.09	0.68999	.	0.517985	0.19124	N	0.122115	D	0.91882	0.7430	M	0.85373	2.75	0.39629	D	0.970144	B	0.29432	0.244	B	0.26864	0.074	D	0.92082	0.5673	10	0.87932	D	0	.	18.5149	0.90933	0.0:1.0:0.0:0.0	.	33	P31267	HXA6_HUMAN	N	33	ENSP00000222728:D33N	ENSP00000222728:D33N	D	-	1	0	HOXA6	27153797	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.530000	0.60595	2.350000	0.79820	0.651000	0.88453	GAC		PASS	0.607	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			12	29	12	29	---	---	---	---
TAX1BP1	8887	broad.mit.edu	37	7	27868362	27868362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:27868362G>T	ENST00000396319.2	+	17	2372	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.E720*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.E720*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.E563*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.E786*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	762					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.E762*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GATGTGCAGCGAGCAGTTCCC	0.418																																						uc003szl.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(2284-2286)GAG>TAG		Tax1 (human T-cell leukemia virus type I)							149.0	139.0	143.0					7																	27868362		2203	4300	6503	SO:0001587	stop_gained	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27868362G>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2284G>T	7.37:g.27868362G>T	ENSP00000379612:p.Glu762*					TAX1BP1_uc011jzo.1_Nonsense_Mutation_p.E720*|TAX1BP1_uc003szk.2_Nonsense_Mutation_p.E720*|TAX1BP1_uc011jzp.1_Nonsense_Mutation_p.E563*	p.E762*	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		17	2442	+			762					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Nonsense_Mutation	SNP	ENST00000396319.2	37	c.2284G>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010532	0.97200	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	.	.	.	6.16	6.16	0.99307	.	0.248669	0.27478	N	0.019188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3976	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	720;720;786;563;762;299	.	ENSP00000265393:E720X	E	+	1	0	TAX1BP1	27834887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.779000	0.68948	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.418	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		6	124	6	124	---	---	---	---
ZNRF2	223082	broad.mit.edu	37	7	30329465	30329465	+	Intron	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:30329465G>A	ENST00000323037.4	+	1	1520				MIR550A1_ENST00000385037.1_RNA	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						GTTGTTGTAAGATAGTGTCTT	0.483																																						hsa-mir-550-1|MI0003600																			0					0															157.0	135.0	142.0					7																	30329465		1568	3582	5150	SO:0001627	intron_variant	693133							g.chr7:30329465G>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.469+4023G>A	7.37:g.30329465G>A						ZNRF2_uc003tat.2_Intron										+									RNA	SNP	ENST00000323037.4	37	c.56G>A	CCDS5426.1																																																																																				PASS	0.483	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		22	93	22	93	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378807	31378807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:31378807C>A	ENST00000297142.3	-	2	398	c.76G>T	c.(76-78)Gag>Tag	p.E26*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	26					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E26*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTCTGGTCCTCGCATTCTCTA	0.418																																						uc003tch.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(76-78)GAG>TAG		neurogenic differentiation 6							135.0	148.0	144.0					7																	31378807		2203	4300	6503	SO:0001587	stop_gained	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378807C>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.76G>T	7.37:g.31378807C>A	ENSP00000297142:p.Glu26*						p.E26*	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	429	-			26					Q548T9|Q9H3H6	Nonsense_Mutation	SNP	ENST00000297142.3	37	c.76G>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	37	6.157381	0.97334	.	.	ENSG00000164600	ENST00000297142	.	.	.	5.28	5.28	0.74379	.	0.259771	0.37219	N	0.002196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-11.9051	18.9485	0.92632	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000297142:E26X	E	-	1	0	NEUROD6	31345332	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.191000	0.77763	2.485000	0.83878	0.650000	0.86243	GAG		PASS	0.418	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		9	262	9	262	---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34724182	34724182	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:34724182C>A	ENST00000360581.1	+	2	294	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	NPSR1_ENST00000381542.1_Missense_Mutation_p.L56M|NPSR1_ENST00000531252.1_Missense_Mutation_p.L56M|NPSR1_ENST00000359791.1_Missense_Mutation_p.L56M|NPSR1_ENST00000381553.3_Missense_Mutation_p.L56M|NPSR1_ENST00000381539.3_Missense_Mutation_p.L56M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000465305.1_Missense_Mutation_p.L56M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	56						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.L56M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATTGATAACTCTGTGGGTCCT	0.418																																						uc003teg.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(166-168)CTG>ATG		G protein-coupled receptor for asthma	Halothane(DB01159)						194.0	187.0	190.0					7																	34724182		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724182C>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.166C>A	7.37:g.34724182C>A	ENSP00000353788:p.Leu56Met					AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L56M|NPSR1_uc010kwt.1_Translation_Start_Site|NPSR1_uc010kwu.1_Translation_Start_Site|NPSR1_uc010kwv.1_Missense_Mutation_p.L56M|NPSR1_uc003tei.1_Missense_Mutation_p.L56M|NPSR1_uc010kww.1_Missense_Mutation_p.L56M|NPSR1_uc011kar.1_Missense_Mutation_p.L56M	p.L56M	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			2	294	+			56			Helical; Name=1; (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.166C>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895127	0.72639	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.01	5.01	0.66863	.	0.285408	0.25050	N	0.033540	T	0.52964	0.1767	L	0.27053	0.805	0.46521	D	0.999082	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.994;0.999;0.989	D;D;D;P;D;P	0.91635	0.996;0.999;0.998;0.904;0.998;0.804	T	0.55592	-0.8117	10	0.59425	D	0.04	-10.1034	17.0398	0.86486	0.0:1.0:0.0:0.0	.	56;56;56;56;56;56	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	M	56	ENSP00000370965:L56M;ENSP00000434955:L56M;ENSP00000353788:L56M;ENSP00000370953:L56M;ENSP00000352839:L56M;ENSP00000433258:L56M;ENSP00000370950:L56M	ENSP00000352839:L56M	L	+	1	2	NPSR1	34690707	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.150000	0.50662	2.598000	0.87819	0.561000	0.74099	CTG		PASS	0.418	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		9	158	9	158	---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36455406	36455406	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:36455406G>T	ENST00000265748.2	+	8	1656	c.1435G>T	c.(1435-1437)Ggt>Tgt	p.G479C	ANLN_ENST00000396068.2_Missense_Mutation_p.G479C|ANLN_ENST00000495714.1_Intron	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	479	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.G479C(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAACACCAAGGTGTTTCAAA	0.358																																						uc003tff.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1435-1437)GGT>TGT		anillin, actin binding protein							117.0	124.0	121.0					7																	36455406		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36455406G>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1435G>T	7.37:g.36455406G>T	ENSP00000265748:p.Gly479Cys					ANLN_uc011kaz.1_Missense_Mutation_p.G391C|ANLN_uc003tfg.2_Missense_Mutation_p.G479C|ANLN_uc010kxe.2_Missense_Mutation_p.G479C	p.G479C	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			8	1639	+			479			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1435G>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899611	0.33535	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.11495	2.77;2.77	4.52	1.64	0.23874	.	1.868360	0.02364	N	0.077141	T	0.08492	0.0211	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.33512	0.343;0.291;0.415;0.291	B;B;B;B	0.33392	0.106;0.078;0.163;0.103	T	0.26780	-1.0093	10	0.56958	D	0.05	1.2158	4.1904	0.10417	0.2075:0.0:0.6105:0.182	.	356;479;479;479	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	C	479	ENSP00000265748:G479C;ENSP00000379380:G479C	ENSP00000265748:G479C	G	+	1	0	ANLN	36421931	0.103000	0.21917	0.003000	0.11579	0.500000	0.33767	1.297000	0.33400	0.207000	0.20607	-0.216000	0.12614	GGT		PASS	0.358	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		9	221	9	221	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37951810	37951810	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:37951810T>A	ENST00000436072.2	-	4	1079	c.702A>T	c.(700-702)caA>caT	p.Q234H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	234	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Q234H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGAGCGGGACTTGAGTTCGAG	0.483																																						uc003tfo.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(700-702)CAA>CAT		secreted frizzled-related  protein 4 precursor							235.0	213.0	221.0					7																	37951810		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951810T>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.702A>T	7.37:g.37951810T>A	ENSP00000410715:p.Gln234His						p.Q234H	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			4	1088	-			234			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.702A>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716430	0.68844	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.23950	1.88;1.88	5.9	3.2	0.36748	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.167383	0.53938	D	0.000051	T	0.32346	0.0826	L	0.34521	1.04	0.35902	D	0.830432	D	0.65815	0.995	D	0.65443	0.935	T	0.35400	-0.9790	10	0.56958	D	0.05	.	6.6433	0.22921	0.0:0.3365:0.0:0.6635	.	234	Q6FHJ7	SFRP4_HUMAN	H	234;231;100	ENSP00000410715:Q234H;ENSP00000402262:Q100H	ENSP00000410715:Q234H	Q	-	3	2	SFRP4	37918335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.428000	0.34892	1.033000	0.39918	0.528000	0.53228	CAA		PASS	0.483	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		56	74	56	74	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38502670	38502670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:38502670C>A	ENST00000356264.2	-	10	1008	c.793G>T	c.(793-795)Gag>Tag	p.E265*	AMPH_ENST00000428293.2_Nonsense_Mutation_p.E265*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.E265*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	265					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.E265*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAAGGCTCCTCAGGCGGTGAT	0.562																																						uc003tgu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(793-795)GAG>TAG		amphiphysin isoform 1							164.0	154.0	157.0					7																	38502670		2203	4300	6503	SO:0001587	stop_gained	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502670C>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.793G>T	7.37:g.38502670C>A	ENSP00000348602:p.Glu265*					AMPH_uc003tgv.2_Nonsense_Mutation_p.E265*|AMPH_uc003tgt.2_Nonsense_Mutation_p.E18*	p.E265*	NM_001635	NP_001626	P49418	AMPH_HUMAN			10	862	-			265					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	ENST00000356264.2	37	c.793G>T	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.189546|9.189546	0.99094|0.99094	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.098251|.	0.64402|.	D|.	0.000001|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.07813|.	T|.	0.8|.	-30.805|-30.805	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	265;265;265;35;268|15	.|.	ENSP00000317441:E265X|.	E|X	-|-	1|2	0|2	AMPH|AMPH	38469195|38469195	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.701000|0.701000	0.40568|0.40568	6.321000|6.321000	0.72881|0.72881	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		PASS	0.562	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		8	114	8	114	---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38869888	38869888	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:38869888C>A	ENST00000310301.4	-	5	341	c.287G>T	c.(286-288)gGa>gTa	p.G96V	VPS41_ENST00000395969.2_Intron	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	96					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.G96V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATGTGCTCTCCACTTTCATC	0.428																																						uc003tgy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(286-288)GGA>GTA		vacuolar protein sorting 41 isoform 1							418.0	406.0	410.0					7																	38869888		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38869888C>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.287G>T	7.37:g.38869888C>A	ENSP00000309457:p.Gly96Val					VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Missense_Mutation_p.G96V	p.G96V	NM_014396	NP_055211	P49754	VPS41_HUMAN			5	313	-			96					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.287G>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860985	0.71949	.	.	ENSG00000006715	ENST00000310301;ENST00000413141;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T	0.61392	1.72;2.58;2.58;0.11;1.71	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84743	0.0752	10	0.72032	D	0.01	-26.0762	17.4862	0.87689	0.0:1.0:0.0:0.0	.	96	P49754	VPS41_HUMAN	V	96;22;83;46;46	ENSP00000309457:G96V;ENSP00000412974:G22V;ENSP00000411919:G83V;ENSP00000407835:G46V;ENSP00000398584:G46V	ENSP00000265745:G96V	G	-	2	0	VPS41	38836413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.491000	0.73649	2.611000	0.88343	0.650000	0.86243	GGA		PASS	0.428	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			147	247	147	247	---	---	---	---
RALA	5898	broad.mit.edu	37	7	39745754	39745754	+	Silent	SNP	G	G	T	rs147901344	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:39745754G>T	ENST00000005257.2	+	5	911	c.531G>T	c.(529-531)gcG>gcT	p.A177A	AC004837.5_ENST00000435766.1_RNA|RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	177					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A177A(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAATTCGAGCGAGAAAGATGG	0.323																																						uc003thd.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(529-531)GCG>GCT		ras related v-ral simian leukemia viral oncogene							65.0	71.0	69.0					7																	39745754		2203	4298	6501	SO:0001819	synonymous_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39745754G>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.531G>T	7.37:g.39745754G>T							p.A177A	NM_005402	NP_005393	P11233	RALA_HUMAN			5	831	+			177					A4D1W3	Silent	SNP	ENST00000005257.2	37	c.531G>T	CCDS5460.1																																																																																				PASS	0.323	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402		6	116	6	116	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44556514	44556514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:44556514C>A	ENST00000289547.4	-	17	3443	c.3388G>T	c.(3388-3390)Gag>Tag	p.E1130*	NPC1L1_ENST00000546276.1_Nonsense_Mutation_p.E1057*|NPC1L1_ENST00000381160.3_Nonsense_Mutation_p.E1103*	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1130					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.E1130*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGTACTGCTCATAAAACACA	0.607																																						uc003tlb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3388-3390)GAG>TAG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						68.0	66.0	67.0					7																	44556514		2203	4300	6503	SO:0001587	stop_gained	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44556514C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3388G>T	7.37:g.44556514C>A	ENSP00000289547:p.Glu1130*					NPC1L1_uc003tlc.2_Nonsense_Mutation_p.E1103*|NPC1L1_uc011kbw.1_Nonsense_Mutation_p.E1057*|NPC1L1_uc003tla.2_Intron	p.E1130*	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			17	3444	-			1130			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Nonsense_Mutation	SNP	ENST00000289547.4	37	c.3388G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	C	41	8.918114	0.99002	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	.	.	.	5.03	4.14	0.48551	.	0.058272	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.2402	12.4771	0.55821	0.0:0.7904:0.2096:0.0	.	.	.	.	X	1130;1103;1057	.	ENSP00000289547:E1130X	E	-	1	0	NPC1L1	44523039	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	3.644000	0.54381	1.080000	0.41073	0.563000	0.77884	GAG		PASS	0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	14	4	14	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44608558	44608558	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:44608558G>T	ENST00000258772.5	-	11	1433	c.1327C>A	c.(1327-1329)Cgg>Agg	p.R443R	DDX56_ENST00000431640.1_Silent_p.R403R|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	443					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R443R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537																																						uc003tlg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1327-1329)CGG>AGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							177.0	149.0	159.0					7																	44608558		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44608558G>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1327C>A	7.37:g.44608558G>T						DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.R379R|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.R403R|DDX56_uc010kyh.1_RNA	p.R443R	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			11	1970	-			443					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.1327C>A	CCDS5492.1																																																																																				PASS	0.537	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		6	163	6	163	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103589	53103589	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:53103589C>T	ENST00000408890.4	+	1	241	c.225C>T	c.(223-225)acC>acT	p.T75T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	75								p.T75T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCAGCACCCACCTCATCG	0.711																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)ACC>ACT		POM121 membrane glycoprotein-like 12							19.0	23.0	22.0					7																	53103589		1907	4107	6014	SO:0001819	synonymous_variant	285877							g.chr7:53103589C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.225C>T	7.37:g.53103589C>T							p.T75T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	241	+			75					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.225C>T	CCDS43584.1																																																																																				PASS	0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	16	11	16	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103999	53103999	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:53103999C>A	ENST00000408890.4	+	1	651	c.635C>A	c.(634-636)cCc>cAc	p.P212H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	212								p.P212H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AACCTGCAGCCCCGGCCCTCT	0.672																																						uc003tpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CCC>CAC		POM121 membrane glycoprotein-like 12							45.0	55.0	52.0					7																	53103999		1977	4130	6107	SO:0001583	missense	285877							g.chr7:53103999C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.635C>A	7.37:g.53103999C>A	ENSP00000386133:p.Pro212His						p.P212H	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	651	+			212					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.635C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.857	0.725318	0.15439	.	.	ENSG00000221900	ENST00000408890	T	0.11063	2.81	1.8	1.8	0.24995	.	.	.	.	.	T	0.15955	0.0384	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.11792	-1.0573	9	0.66056	D	0.02	.	7.1056	0.25362	0.0:1.0:0.0:0.0	.	212	Q8N7R1	P1L12_HUMAN	H	212	ENSP00000386133:P212H	ENSP00000386133:P212H	P	+	2	0	POM121L12	53071493	0.000000	0.05858	0.054000	0.19295	0.042000	0.13812	0.153000	0.16323	1.328000	0.45358	0.561000	0.74099	CCC		PASS	0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		9	55	9	55	---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56141875	56141875	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:56141875C>A	ENST00000413756.1	+	4	371	c.348C>A	c.(346-348)ctC>ctA	p.L116L	SUMF2_ENST00000275607.9_Silent_p.L28L|SUMF2_ENST00000437307.2_Silent_p.L116L|SUMF2_ENST00000342190.6_Silent_p.L135L|SUMF2_ENST00000434526.2_Silent_p.L135L|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000395435.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	116					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)	p.L116L(1)|p.L135L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGTCTGTACTCTGGTGGCTTC	0.557											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(403-405)CTC>CTA		sulfatase modifying factor 2 isoform e							223.0	201.0	209.0					7																	56141875		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56141875C>A	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.348C>A	7.37:g.56141875C>A			OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.L135L|SUMF2_uc011kcx.1_Silent_p.L135L|SUMF2_uc003trt.2_Silent_p.L28L|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.L135L	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	436	+	Breast(14;0.214)		116					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.405C>A																																																																																					PASS	0.557	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		8	155	8	155	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72754819	72754819	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:72754819C>T	ENST00000252037.4	+	6	837	c.768C>T	c.(766-768)ctC>ctT	p.L256L	FKBP6_ENST00000431982.2_Silent_p.L251L|FKBP6_ENST00000413573.2_Silent_p.L226L|RNU6-1080P_ENST00000383982.1_RNA	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	256					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.L256L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCAAGGCCCTCTTCAGGTGTG	0.493																																						uc003tya.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(766-768)CTC>CTT		FK506 binding protein 6 isoform a							57.0	57.0	57.0					7																	72754819		1929	4138	6067	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754819C>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.768C>T	7.37:g.72754819C>T						FKBP6_uc003twz.2_Silent_p.L226L|FKBP6_uc011kew.1_Silent_p.L251L|FKBP6_uc010lbe.1_RNA	p.L256L	NM_003602	NP_003593	O75344	FKBP6_HUMAN			6	900	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	256			TPR 3.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.768C>T	CCDS43595.1																																																																																				PASS	0.493	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		10	33	10	33	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76126661	76126661	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:76126661G>T	ENST00000324432.5	+	7	1527	c.1017G>T	c.(1015-1017)acG>acT	p.T339T	DTX2_ENST00000430490.2_Silent_p.T339T|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000446600.1_Silent_p.T248T|DTX2_ENST00000413936.2_Silent_p.T339T|DTX2_ENST00000307569.8_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	339					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T339T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAGGCATGACGAGTGTTCTGA	0.597																																						uc003uff.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1015-1017)ACG>ACT		deltex 2 isoform a							176.0	151.0	159.0					7																	76126661		2202	4298	6500	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76126661G>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1017G>T	7.37:g.76126661G>T						DTX2_uc011kgk.1_Silent_p.T248T|DTX2_uc003ufg.3_Silent_p.T339T|DTX2_uc003ufh.3_Silent_p.T339T|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Silent_p.T2T|DTX2_uc003ufm.3_5'Flank	p.T339T	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			7	1573	+			339					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.1017G>T	CCDS5587.1																																																																																				PASS	0.597	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	147	7	147	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76891505	76891505	+	Missense_Mutation	SNP	C	C	A	rs148455218		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:76891505C>A	ENST00000285871.4	+	9	1181	c.1054C>A	c.(1054-1056)Cgt>Agt	p.R352S	CCDC146_ENST00000431197.1_Missense_Mutation_p.R98S|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	352								p.R352C(1)|p.R352S(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAACTTTCTCGTAAGCAAAG	0.403																																						uc003uga.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1054-1056)CGT>AGT		coiled-coil domain containing 146							100.0	100.0	100.0					7																	76891505		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76891505C>A	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1054C>A	7.37:g.76891505C>A	ENSP00000285871:p.Arg352Ser					CCDC146_uc010ldp.2_Missense_Mutation_p.R98S	p.R352S	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			9	1181	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	352					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.1054C>A	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551647	0.86127	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.41065	1.01;1.01	5.78	5.78	0.91487	.	0.380168	0.29501	N	0.011975	T	0.48804	0.1520	L	0.58101	1.795	0.45946	D	0.998775	P;P	0.51933	0.949;0.759	P;B	0.46718	0.525;0.443	T	0.37798	-0.9690	10	0.33940	T	0.23	-1.5862	18.7832	0.91942	0.0:1.0:0.0:0.0	.	98;352	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	S	352;98	ENSP00000285871:R352S;ENSP00000413885:R98S	ENSP00000285871:R352S	R	+	1	0	AC007000.1	76729441	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	1.796000	0.38794	2.744000	0.94065	0.563000	0.77884	CGT		PASS	0.403	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	105	6	105	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82545331	82545331	+	Missense_Mutation	SNP	C	C	A	rs201753136		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:82545331C>A	ENST00000333891.9	-	7	12308	c.11971G>T	c.(11971-11973)Gtt>Ttt	p.V3991F	PCLO_ENST00000437081.1_Missense_Mutation_p.V711F|PCLO_ENST00000423517.2_Missense_Mutation_p.V3991F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V3991F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCGTAGAAACAGGTGCTATC	0.413																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(11971-11973)GTT>TTT		piccolo isoform 1							385.0	363.0	370.0					7																	82545331		1927	4135	6062	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545331C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11971G>T	7.37:g.82545331C>A	ENSP00000334319:p.Val3991Phe					PCLO_uc003uhv.2_Missense_Mutation_p.V3991F|PCLO_uc010lec.2_Missense_Mutation_p.V956F	p.V3991F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12260	-			3922						Missense_Mutation	SNP	ENST00000333891.9	37	c.11971G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598167	0.46318	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.85	5.85	0.93711	.	.	.	.	.	T	0.30103	0.0754	L	0.56769	1.78	0.41290	D	0.986976	P;P;P	0.49961	0.93;0.874;0.874	B;B;P	0.48141	0.36;0.444;0.568	T	0.01316	-1.1387	9	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3922;3991;3991	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	3991;3991;711	ENSP00000334319:V3991F;ENSP00000388393:V3991F	ENSP00000334319:V3991F	V	-	1	0	PCLO	82383267	0.983000	0.35010	1.000000	0.80357	0.948000	0.59901	1.476000	0.35420	2.767000	0.95098	0.563000	0.77884	GTT		PASS	0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	315	10	315	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87081012	87081012	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:87081012C>G	ENST00000265723.4	-	7	746	c.635G>C	c.(634-636)aGa>aCa	p.R212T	ABCB4_ENST00000358400.3_Missense_Mutation_p.R212T|ABCB4_ENST00000359206.3_Missense_Mutation_p.R212T|ABCB4_ENST00000545634.1_Missense_Mutation_p.R212T|ABCB4_ENST00000453593.1_Missense_Mutation_p.R212T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	212	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R212T(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTCCATCCTCTGATGAATCC	0.453																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(634-636)AGA>ACA		ATP-binding cassette, subfamily B, member 4							175.0	146.0	156.0					7																	87081012		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87081012C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.635G>C	7.37:g.87081012C>G	ENSP00000265723:p.Arg212Thr					ABCB4_uc003uiw.1_Missense_Mutation_p.R212T|ABCB4_uc003uix.1_Missense_Mutation_p.R212T	p.R212T	NM_018849	NP_061337	P21439	MDR3_HUMAN			7	711	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		212			ABC transmembrane type-1 1.|Extracellular (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.635G>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783561	0.31593	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.95	5.08	0.68730	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.143577	0.64402	D	0.000010	D	0.83963	0.5368	L	0.45228	1.405	0.22142	N	0.999335	B;B;B	0.18968	0.032;0.004;0.005	B;B;B	0.20184	0.028;0.008;0.014	T	0.74791	-0.3545	10	0.49607	T	0.09	-18.9093	9.4581	0.38767	0.0:0.7454:0.0:0.2546	.	212;212;212	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	212	ENSP00000352135:R212T;ENSP00000351172:R212T;ENSP00000265723:R212T;ENSP00000392983:R212T;ENSP00000437465:R212T	ENSP00000265723:R212T	R	-	2	0	ABCB4	86918948	0.883000	0.30277	0.998000	0.56505	0.990000	0.78478	0.485000	0.22324	1.546000	0.49388	-0.122000	0.15005	AGA		PASS	0.453	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		16	57	16	57	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965209	88965209	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:88965209C>T	ENST00000333190.4	+	4	3522	c.2913C>T	c.(2911-2913)ggC>ggT	p.G971G		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971							metal ion binding (GO:0046872)	p.G971G(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACCATCAGGCTGTAACAGAC	0.403										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2911-2913)GGC>GGT		zinc finger protein 804B							110.0	110.0	110.0					7																	88965209		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965209C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2913C>T	7.37:g.88965209C>T		HNSCC(36;0.09)					p.G971G	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3451	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		971					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2913C>T	CCDS5613.1																																																																																				PASS	0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		58	78	58	78	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89887459	89887459	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:89887459G>T	ENST00000389297.4	+	3	479	c.228G>T	c.(226-228)caG>caT	p.Q76H	C7orf63_ENST00000316089.8_Missense_Mutation_p.Q76H|C7orf63_ENST00000497910.1_Missense_Mutation_p.Q76H|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		76								p.Q76H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AACTGGTACAGTGTTATCAGA	0.284																																						uc010lep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(226-228)CAG>CAT		hypothetical protein LOC79846 isoform 1							80.0	80.0	80.0					7																	89887459		1808	4049	5857	SO:0001583	missense	79846						binding	g.chr7:89887459G>T																												ENST00000389297.4:c.228G>T	7.37:g.89887459G>T	ENSP00000373948:p.Gln76His					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.Q76H|C7orf63_uc010leo.2_Missense_Mutation_p.Q76H	p.Q76H	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			3	479	+			76					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.228G>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287069	0.23478	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.04	2.15	0.27550	.	0.810801	0.10963	N	0.614743	T	0.12178	0.0296	L	0.33485	1.01	0.21147	N	0.999773	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.12156	0.006;0.002;0.007	T	0.30995	-0.9959	10	0.37606	T	0.19	-0.294	5.2338	0.15436	0.1192:0.2227:0.6581:0.0	.	76;76;76	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	H	76;76;76;16	ENSP00000373948:Q76H;ENSP00000321753:Q76H;ENSP00000419549:Q76H;ENSP00000392365:Q16H	ENSP00000321753:Q76H	Q	+	3	2	C7orf63	89725395	0.997000	0.39634	0.112000	0.21494	0.580000	0.36256	1.006000	0.29847	0.430000	0.26230	0.557000	0.71058	CAG		PASS	0.284	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			5	75	5	75	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92140260	92140260	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:92140260G>T	ENST00000248633.4	-	8	1680	c.1585C>A	c.(1585-1587)Caa>Aaa	p.Q529K	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.Q207K|PEX1_ENST00000428214.1_Missense_Mutation_p.Q529K	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	529					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.Q529K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTATTACTTGTATTGTAGTC	0.284																																						uc003uly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1585-1587)CAA>AAA		peroxin1							31.0	33.0	32.0					7																	92140260		2136	4237	6373	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92140260G>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1585C>A	7.37:g.92140260G>T	ENSP00000248633:p.Gln529Lys					PEX1_uc011khr.1_Missense_Mutation_p.Q321K|PEX1_uc010ley.2_Missense_Mutation_p.Q529K|PEX1_uc011khs.1_Missense_Mutation_p.Q207K|PEX1_uc011kht.1_RNA	p.Q529K	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		8	1681	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	529					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1585C>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816155	0.70912	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95656	-3.44;-3.53;-3.77	5.16	5.16	0.70880	.	0.052205	0.85682	D	0.000000	D	0.96256	0.8779	M	0.61703	1.905	0.80722	D	1	D;D;P	0.63046	0.992;0.979;0.956	P;P;P	0.55055	0.767;0.604;0.628	D	0.96114	0.9079	10	0.54805	T	0.06	-14.887	17.0121	0.86409	0.0:0.0:1.0:0.0	.	207;321;529	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	K	207;529;529;529	ENSP00000410438:Q207K;ENSP00000248633:Q529K;ENSP00000394413:Q529K	ENSP00000248633:Q529K	Q	-	1	0	PEX1	91978196	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.110000	0.64622	2.687000	0.91594	0.462000	0.41574	CAA		PASS	0.284	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		6	87	6	87	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97822171	97822171	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:97822171C>A	ENST00000297293.5	+	11	2687	c.2394C>A	c.(2392-2394)ctC>ctA	p.L798L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	798					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.L798L(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGTCATGCTCACAGGTGACA	0.498																																						uc003upd.1																			2	Substitution - coding silent(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(2392-2394)CTC>CTA		lemur tyrosine kinase 2 precursor							116.0	119.0	118.0					7																	97822171		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822171C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2394C>A	7.37:g.97822171C>A							p.L798L	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	2687	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		798					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.2394C>A	CCDS5654.1																																																																																				PASS	0.498	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		8	110	8	110	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98601960	98601960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:98601960C>A	ENST00000359863.4	+	67	10624	c.10415C>A	c.(10414-10416)tCg>tAg	p.S3472*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.S3461*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.S3443*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3472					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.S3443*(1)|p.S3472*(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAATTTCTCGGCACAGACA	0.478																																						uc003upp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10414-10416)TCG>TAG		transformation/transcription domain-associated							89.0	98.0	95.0					7																	98601960		2203	4300	6503	SO:0001587	stop_gained	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98601960C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10415C>A	7.37:g.98601960C>A	ENSP00000352925:p.Ser3472*					TRRAP_uc011kis.1_Nonsense_Mutation_p.S3443*|TRRAP_uc003upr.2_Nonsense_Mutation_p.S3178*	p.S3472*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		67	10624	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3472					A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	c.10415C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	52	19.599889	0.99921	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3185	0.94226	0.0:1.0:0.0:0.0	.	.	.	.	X	3472;3443;3460	.	ENSP00000347733:S3443X	S	+	2	0	TRRAP	98439896	1.000000	0.71417	0.948000	0.38648	0.767000	0.43475	7.818000	0.86416	2.574000	0.86865	0.650000	0.86243	TCG		PASS	0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		6	147	6	147	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99128838	99128838	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:99128838C>A	ENST00000394170.2	+	7	1737	c.1486C>A	c.(1486-1488)Caa>Aaa	p.Q496K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q496K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q496K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	496					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.Q496K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAATGTTTCTCAAGTTCAAGA	0.363																																						uc003uqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1486-1488)CAA>AAA		zinc finger with KRAB and SCAN domains 5							119.0	132.0	128.0					7																	99128838		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99128838C>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1486C>A	7.37:g.99128838C>A	ENSP00000377725:p.Gln496Lys					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.Q496K|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.Q496K|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.Q423K|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.Q232K	p.Q496K	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			7	1610	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		496					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1486C>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230492	0.22542	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.07114	3.22;3.22;3.22	5.23	3.14	0.36123	.	0.352988	0.24676	N	0.036504	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.42015	-0.9476	10	0.02654	T	1	.	15.068	0.72011	0.0:0.7638:0.2362:0.0	.	496;496	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	496	ENSP00000322872:Q496K;ENSP00000392104:Q496K;ENSP00000377725:Q496K	ENSP00000322872:Q496K	Q	+	1	0	ZKSCAN5	98966774	0.017000	0.18338	0.250000	0.24296	0.725000	0.41563	0.411000	0.21115	0.655000	0.30866	0.591000	0.81541	CAA		PASS	0.363	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		9	252	9	252	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100201832	100201832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:100201832C>A	ENST00000223061.5	+	3	735	c.455C>A	c.(454-456)tCg>tAg	p.S152*	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	152					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.S152*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGGCCACCTCGGGCACTGGT	0.736																																						uc003uvo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(454-456)TCG>TAG		procollagen C-endopeptidase enhancer							40.0	46.0	44.0					7																	100201832		2203	4300	6503	SO:0001587	stop_gained	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201832C>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.455C>A	7.37:g.100201832C>A	ENSP00000223061:p.Ser152*					uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Nonsense_Mutation_p.S152*|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	p.S152*	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			3	653	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		152					B2R9E1|O14550	Nonsense_Mutation	SNP	ENST00000223061.5	37	c.455C>A	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559706	0.97663	.	.	ENSG00000106333	ENST00000223061	.	.	.	4.6	2.7	0.31948	.	0.314598	0.29924	N	0.010858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-3.2716	2.6723	0.05070	0.1754:0.5253:0.1933:0.106	.	.	.	.	X	152	.	ENSP00000223061:S152X	S	+	2	0	PCOLCE	100039768	0.244000	0.23889	0.762000	0.31397	0.988000	0.76386	0.446000	0.21694	1.160000	0.42584	0.462000	0.41574	TCG		PASS	0.736	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		4	31	4	31	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677874	100677874	+	Silent	SNP	G	G	T	rs147962629	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:100677874G>T	ENST00000306151.4	+	3	3241	c.3177G>T	c.(3175-3177)acG>acT	p.T1059T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1059	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1059T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGAAACGAGCACACTTT	0.502																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3175-3177)ACG>ACT		mucin 17 precursor							489.0	380.0	417.0					7																	100677874		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677874G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3177G>T	7.37:g.100677874G>T						MUC17_uc010lho.1_RNA	p.T1059T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3230	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1059			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3177G>T	CCDS34711.1																																																																																				PASS	0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	221	7	221	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100681823	100681823	+	Missense_Mutation	SNP	G	G	C	rs147490705		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:100681823G>C	ENST00000306151.4	+	3	7190	c.7126G>C	c.(7126-7128)Ggt>Cgt	p.G2376R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2376	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G2376R(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTCAAGCCGGTTCATCTCC	0.488																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7126-7128)GGT>CGT		mucin 17 precursor							265.0	261.0	263.0					7																	100681823		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681823G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7126G>C	7.37:g.100681823G>C	ENSP00000302716:p.Gly2376Arg					MUC17_uc010lho.1_RNA	p.G2376R	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7179	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2376			Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7126G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.115	-1.133669	0.01756	.	.	ENSG00000169876	ENST00000306151	T	0.03607	3.87	1.24	-2.47	0.06442	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.40194	-0.9576	9	0.31617	T	0.26	.	5.3037	0.15791	0.2718:0.1851:0.5431:0.0	.	2376	Q685J3	MUC17_HUMAN	R	2376	ENSP00000302716:G2376R	ENSP00000302716:G2376R	G	+	1	0	MUC17	100468543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.058000	0.03482	-3.612000	0.00132	-3.928000	0.00016	GGT		PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	166	4	166	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100855549	100855549	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:100855549G>T	ENST00000223127.3	-	10	1510	c.1112C>A	c.(1111-1113)gCc>gAc	p.A371D		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	371					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.A371D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATGTCCCTGGCCTCGCCTGG	0.662																																						uc003uyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1111-1113)GCC>GAC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						59.0	59.0	59.0					7																	100855549		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100855549G>T	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1112C>A	7.37:g.100855549G>T	ENSP00000223127:p.Ala371Asp					PLOD3_uc010lhs.2_5'UTR	p.A371D	NM_001084	NP_001075	O60568	PLOD3_HUMAN			10	1568	-	Lung NSC(181;0.168)|all_lung(186;0.215)		371					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.1112C>A	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.79|17.79	3.476681|3.476681	0.63737|0.63737	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127|ENST00000421736	D|.	0.89270|.	-2.49|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.133958|.	0.48286|.	D|.	0.000200|.	T|T	0.78972|0.78972	0.4368|0.4368	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.73380|.	0.98|.	T|T	0.82699|0.82699	-0.0328|-0.0328	10|5	0.72032|.	D|.	0.01|.	-14.0236|-14.0236	14.589|14.589	0.68351|0.68351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	371|.	O60568|.	PLOD3_HUMAN|.	D|T	371|162	ENSP00000223127:A371D|.	ENSP00000223127:A371D|.	A|P	-|-	2|1	0|0	PLOD3|PLOD3	100642269|100642269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.216000|0.216000	0.24613|0.24613	8.990000|8.990000	0.93510|0.93510	2.025000|2.025000	0.59659|0.59659	0.462000|0.462000	0.41574|0.41574	GCC|CCA		PASS	0.662	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			5	54	5	54	---	---	---	---
MET	4233	broad.mit.edu	37	7	116380911	116380911	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:116380911G>T	ENST00000318493.6	+	5	1720	c.1533G>T	c.(1531-1533)acG>acT	p.T511T	MET_ENST00000397752.3_Silent_p.T511T|MET_ENST00000436117.2_Silent_p.T511T|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0				E -> V (in Ref. 1; BAA91401). {ECO:0000305}.	apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T511T(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACAGATCACGAAGATCCCAT	0.443			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(1531-1533)ACG>ACT		met proto-oncogene isoform b precursor							97.0	95.0	96.0					7																	116380911		1885	4111	5996	SO:0001819	synonymous_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116380911G>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1533G>T	7.37:g.116380911G>T						MET_uc010lkh.2_Silent_p.T511T|MET_uc011knc.1_Silent_p.T511T|MET_uc011knd.1_Silent_p.T511T|MET_uc011kne.1_Intron|MET_uc011knf.1_Silent_p.T511T|MET_uc011kng.1_Silent_p.T511T|MET_uc011knh.1_Silent_p.T511T|MET_uc011kni.1_Silent_p.T511T|MET_uc011knj.1_Silent_p.T81T|MET_uc011knb.1_Silent_p.T511T	p.T511T	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		5	1720	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	511			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1533G>T	CCDS47689.1																																																																																				PASS	0.443	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	103	5	103	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123270074	123270074	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:123270074C>A	ENST00000451558.1	+	13	2016	c.1495C>A	c.(1495-1497)Cgt>Agt	p.R499S	ASB15_ENST00000451215.1_Missense_Mutation_p.R499S|ASB15_ENST00000275699.3_Missense_Mutation_p.R499S|ASB15_ENST00000540573.1_Missense_Mutation_p.R499S|ASB15_ENST00000434204.1_Missense_Mutation_p.R499S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358																																						uc003vku.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(1495-1497)CGT>AGT		ankyrin repeat and SOCS box-containing 15							145.0	143.0	143.0					7																	123270074		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123270074C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1495C>A	7.37:g.123270074C>A	ENSP00000397655:p.Arg499Ser					ASB15_uc003vkw.1_Missense_Mutation_p.R499S	p.R499S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			11	1787	+			499					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1495C>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849191	0.32699	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000275699	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	T	0.75057	0.3798	M	0.73217	2.22	0.25618	N	0.986435	D	0.55605	0.972	P	0.56700	0.804	T	0.71258	-0.4646	10	0.54805	T	0.06	14.3393	10.4831	0.44706	0.1333:0.7988:0.0:0.0679	.	499	Q8WXK1	ASB15_HUMAN	S	499	ENSP00000397655:R499S;ENSP00000390963:R499S;ENSP00000416433:R499S;ENSP00000438643:R499S;ENSP00000275699:R499S	ENSP00000275699:R499S	R	+	1	0	ASB15	123057310	0.985000	0.35326	0.466000	0.27168	0.051000	0.14879	1.586000	0.36611	2.885000	0.99019	0.655000	0.94253	CGT		PASS	0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			7	135	7	135	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123593690	123593690	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:123593690G>A	ENST00000439500.1	+	4	679	c.66G>A	c.(64-66)caG>caA	p.Q22Q	SPAM1_ENST00000460182.1_Silent_p.Q22Q|SPAM1_ENST00000223028.7_Silent_p.Q22Q|SPAM1_ENST00000340011.5_Silent_p.Q22Q|SPAM1_ENST00000402183.2_Silent_p.Q22Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	22					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.Q22Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGTATCCCAGATAGTTTTCA	0.393																																						uc003vld.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)	4						c.(64-66)CAG>CAA		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						91.0	86.0	88.0					7																	123593690		2203	4300	6503	SO:0001819	synonymous_variant	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593690G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.66G>A	7.37:g.123593690G>A						SPAM1_uc003vle.2_Silent_p.Q22Q|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.Q22Q|SPAM1_uc010lku.2_Silent_p.Q22Q	p.Q22Q	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	468	+			22					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.66G>A	CCDS5791.1																																																																																				PASS	0.393	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			14	36	14	36	---	---	---	---
CALU	813	broad.mit.edu	37	7	128399070	128399070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:128399070C>A	ENST00000249364.4	+	4	663	c.561C>A	c.(559-561)taC>taA	p.Y187*	CALU_ENST00000449187.2_Nonsense_Mutation_p.Y187*|CALU_ENST00000535011.2_Nonsense_Mutation_p.Y187*|CALU_ENST00000542996.2_Nonsense_Mutation_p.Y195*|CALU_ENST00000479257.1_Nonsense_Mutation_p.Y195*|RN7SL81P_ENST00000493781.2_RNA|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Nonsense_Mutation_p.Y36*	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	187					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)	p.Y187*(1)|p.Y195*(1)		kidney(2)|large_intestine(3)|lung(5)	10						AGTATGACTACATGAAAGATA	0.448																																						uc003vns.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(559-561)TAC>TAA		calumenin isoform b precursor							193.0	200.0	198.0					7																	128399070		2203	4300	6503	SO:0001587	stop_gained	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128399070C>A	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.561C>A	7.37:g.128399070C>A	ENSP00000249364:p.Tyr187*					CALU_uc003vnq.2_Nonsense_Mutation_p.Y187*|CALU_uc003vnr.2_Nonsense_Mutation_p.Y187*	p.Y187*	NM_001130674	NP_001124146	O43852	CALU_HUMAN			4	713	+			187					B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Nonsense_Mutation	SNP	ENST00000249364.4	37	c.561C>A	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.365976|6.365976	0.97507|0.97507	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000493278|ENST00000542996;ENST00000538394;ENST00000535011;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	.|.	.|.	.|.	6.08|6.08	3.34|3.34	0.38264|0.38264	.|.	.|0.051810	.|0.85682	.|D	.|0.000000	T|.	0.28234|.	0.0697|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31081|.	-0.9956|.	3|.	.|0.09590	.|T	.|0.72	-7.1053|-7.1053	7.0735|7.0735	0.25191|0.25191	0.0:0.6763:0.0:0.3237|0.0:0.6763:0.0:0.3237	.|.	.|.	.|.	.|.	N|X	19|195;187;187;36;187;187;195	.|.	.|ENSP00000249364:Y187X	H|Y	+|+	1|3	0|2	CALU|CALU	128186306|128186306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	1.718000|1.718000	0.38001|0.38001	0.923000|0.923000	0.37045|0.37045	-0.229000|-0.229000	0.12294|0.12294	CAT|TAC		PASS	0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		8	140	8	140	---	---	---	---
KLHDC10	23008	broad.mit.edu	37	7	129769365	129769365	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:129769365C>A	ENST00000335420.5	+	9	1202	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	356						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L356L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GGGTGAAGCTCCCAGCTACCA	0.398																																						uc003vpj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1066-1068)CTC>CTA		kelch domain containing 10							140.0	130.0	133.0					7																	129769365		2203	4300	6503	SO:0001819	synonymous_variant	23008							g.chr7:129769365C>A		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.1068C>A	7.37:g.129769365C>A						KLHDC10_uc003vpk.1_Silent_p.L327L|KLHDC10_uc010lmb.1_Silent_p.L253L	p.L356L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			9	1203	+			356			Kelch 5.		Q86Y99|Q92554	Silent	SNP	ENST00000335420.5	37	c.1068C>A	CCDS5815.1																																																																																				PASS	0.398	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			6	75	6	75	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131848963	131848963	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:131848963C>T	ENST00000359827.3	-	24	5400	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1480K			Q9HCM2	PLXA4_HUMAN	plexin A4	1480					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1480K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGCGGGCCTCGCCCGTGATG	0.592																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4438-4440)GAG>AAG		plexin A4 isoform 1							75.0	79.0	77.0					7																	131848963		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131848963C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4438G>A	7.37:g.131848963C>T	ENSP00000352882:p.Glu1480Lys						p.E1480K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			24	4667	-			1480			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4438G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.10668	2.85;2.85	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03695	-1.1012	10	0.08837	T	0.75	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1480	Q9HCM2	PLXA4_HUMAN	K	1480	ENSP00000323194:E1480K;ENSP00000352882:E1480K	ENSP00000323194:E1480K	E	-	1	0	PLXNA4	131499503	1.000000	0.71417	0.952000	0.39060	0.714000	0.41099	6.089000	0.71384	2.550000	0.86006	0.655000	0.94253	GAG		PASS	0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	21	9	21	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603934	138603934	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:138603934C>A	ENST00000422774.1	-	2	486	c.438G>T	c.(436-438)acG>acT	p.T146T	KIAA1549_ENST00000242365.4_Silent_p.T96T|KIAA1549_ENST00000440172.1_Silent_p.T146T			Q9HCM3	K1549_HUMAN	KIAA1549	146						integral component of membrane (GO:0016021)		p.T146T(1)|p.T96T(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCTTTACTCGTCACTGACA	0.453			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(436-438)ACG>ACT		hypothetical protein LOC57670 isoform 1							240.0	231.0	234.0					7																	138603934		2018	4191	6209	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138603934C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.438G>T	7.37:g.138603934C>A						KIAA1549_uc003vuk.3_Silent_p.T96T|KIAA1549_uc011kqj.1_Silent_p.T146T	p.T146T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	487	-			146					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.438G>T	CCDS56513.1																																																																																				PASS	0.453	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			8	180	8	180	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138874078	138874078	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:138874078G>T	ENST00000464848.1	+	18	1645	c.1565G>T	c.(1564-1566)cGa>cTa	p.R522L	TTC26_ENST00000430935.1_Silent_p.S477S|TTC26_ENST00000343187.4_Missense_Mutation_p.R491L|TTC26_ENST00000478836.2_Missense_Mutation_p.R415L|TTC26_ENST00000495038.1_Missense_Mutation_p.R391L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	522					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.R522L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GAGACCCTTCGAGAAGTGCTC	0.363																																						uc003vus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1564-1566)CGA>CTA		tetratricopeptide repeat domain 26 isoform 1							148.0	152.0	151.0					7																	138874078		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138874078G>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1565G>T	7.37:g.138874078G>T	ENSP00000419279:p.Arg522Leu					TTC26_uc011kqn.1_Silent_p.S477S|TTC26_uc011kqo.1_Missense_Mutation_p.R491L|TTC26_uc011kqp.1_Missense_Mutation_p.R417L|TTC26_uc003vut.2_Missense_Mutation_p.R382L|TTC26_uc011kqq.1_Missense_Mutation_p.R391L	p.R522L	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			18	1679	+			522					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1565G>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209461	0.39003	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.47177	0.85;0.87;0.87;0.87	5.43	5.43	0.79202	.	0.064498	0.64402	D	0.000007	T	0.39306	0.1073	.	.	.	0.80722	D	1	B;P;P	0.41748	0.006;0.761;0.649	B;B;B	0.37480	0.01;0.251;0.127	T	0.15694	-1.0428	9	0.23302	T	0.38	.	18.0152	0.89238	0.0:0.0:1.0:0.0	.	391;491;522	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	L	391;415;522;491	ENSP00000418788:R391L;ENSP00000419178:R415L;ENSP00000419279:R522L;ENSP00000339135:R491L	ENSP00000339135:R491L	R	+	2	0	TTC26	138524618	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.090000	0.71397	2.527000	0.85204	0.563000	0.77884	CGA		PASS	0.363	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		6	227	6	227	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139611111	139611111	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:139611111C>A	ENST00000455353.1	+	4	461	c.324C>A	c.(322-324)acC>acA	p.T108T	TBXAS1_ENST00000539806.1_Silent_p.T109T|TBXAS1_ENST00000448866.1_Silent_p.T108T|TBXAS1_ENST00000336425.5_Silent_p.T108T|TBXAS1_ENST00000411653.1_Silent_p.T108T|TBXAS1_ENST00000425687.1_Silent_p.T41T|TBXAS1_ENST00000414508.2_Silent_p.T109T|TBXAS1_ENST00000416849.2_Silent_p.T109T|TBXAS1_ENST00000263552.6_Silent_p.T109T|TBXAS1_ENST00000436047.2_Silent_p.T109T|TBXAS1_ENST00000458722.1_Silent_p.T108T|TBXAS1_ENST00000462275.1_3'UTR			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	108					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.T109T(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GTAACTTTACCAACAGAATGG	0.433																																						uc011kqv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(325-327)ACC>ACA		thromboxane A synthase 1, platelet isoform							242.0	215.0	224.0					7																	139611111		2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139611111C>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.324C>A	7.37:g.139611111C>A						TBXAS1_uc003vvh.2_Silent_p.T109T|TBXAS1_uc010lne.2_Silent_p.T41T|TBXAS1_uc011kqu.1_Silent_p.T60T|TBXAS1_uc003vvi.2_Silent_p.T109T|TBXAS1_uc003vvj.2_Silent_p.T109T|TBXAS1_uc011kqw.1_Silent_p.T89T|TBXAS1_uc011kqx.1_Silent_p.T109T	p.T109T	NM_001130966	NP_001124438	P24557	THAS_HUMAN			4	491	+	Melanoma(164;0.0142)		108			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000455353.1	37	c.327C>A																																																																																					PASS	0.433	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			7	90	7	90	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373931	140373931	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:140373931C>A	ENST00000072869.4	+	1	979	c.801C>A	c.(799-801)ctC>ctA	p.L267L	ADCK2_ENST00000476491.1_Silent_p.L267L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L267L(2)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGAAAATCTCGCAGACCAGT	0.577																																						uc003vvy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(799-801)CTC>CTA		aarF domain containing kinase 2							51.0	59.0	56.0					7																	140373931		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373931C>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.801C>A	7.37:g.140373931C>A						ADCK2_uc003vvz.2_Silent_p.L267L	p.L267L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			1	979	+	Melanoma(164;0.00956)		267			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.801C>A	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	5.179	0.218648	0.09810	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.21	-5.36	0.02689	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35176	-0.9799	4	.	.	.	-13.0369	5.7439	0.18110	0.0:0.3271:0.2525:0.4203	.	.	.	.	S	105	.	.	R	+	1	0	ADCK2	140020400	0.001000	0.12720	0.703000	0.30354	0.508000	0.34012	-0.688000	0.05150	-0.411000	0.07530	-0.459000	0.05422	CGC		PASS	0.577	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		4	35	4	35	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141408871	141408871	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:141408871C>A	ENST00000397541.2	+	1	719	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	105					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.L105M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGCAAGCTGCTGCCCAGTGA	0.517																																						uc003vwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|stomach(1)	2						c.(313-315)CTG>ATG		WEE1 homolog 2							92.0	93.0	92.0					7																	141408871		1951	4144	6095	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408871C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.313C>A	7.37:g.141408871C>A	ENSP00000380675:p.Leu105Met					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.L105M	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			1	719	+	Melanoma(164;0.0171)		105						Missense_Mutation	SNP	ENST00000397541.2	37	c.313C>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862994	0.32884	.	.	ENSG00000214102	ENST00000397541	T	0.23147	1.92	4.79	2.03	0.26663	.	0.854217	0.09776	U	0.757269	T	0.22742	0.0549	L	0.36672	1.1	0.09310	N	1	P	0.37997	0.614	B	0.40329	0.326	T	0.20438	-1.0275	10	0.62326	D	0.03	6.6002	7.3291	0.26571	0.0:0.7109:0.1386:0.1505	.	105	P0C1S8	WEE2_HUMAN	M	105	ENSP00000380675:L105M	ENSP00000380675:L105M	L	+	1	2	WEE2	141055340	0.131000	0.22433	0.002000	0.10522	0.006000	0.05464	1.808000	0.38912	0.486000	0.27676	0.655000	0.94253	CTG		PASS	0.517	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		30	32	30	32	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146818203	146818203	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:146818203T>G	ENST00000361727.3	+	6	1403	c.887T>G	c.(886-888)aTg>aGg	p.M296R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	296	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.M296R(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACAGGAGCATGCAGCACTTC	0.478										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(886-888)ATG>AGG		cell recognition molecule Caspr2 precursor							190.0	148.0	162.0					7																	146818203		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818203T>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.887T>G	7.37:g.146818203T>G	ENSP00000354778:p.Met296Arg	HNSCC(39;0.1)					p.M296R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1403	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	296			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.887T>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659477	0.29515	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.82	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.621188	0.15386	N	0.265070	T	0.60287	0.2257	N	0.17278	0.47	0.58432	D	0.999993	B	0.12630	0.006	B	0.23852	0.049	T	0.40646	-0.9552	10	0.23302	T	0.38	.	8.136	0.31054	0.0:0.2727:0.0:0.7273	.	296	Q9UHC6	CNTP2_HUMAN	R	296	ENSP00000354778:M296R	ENSP00000354778:M296R	M	+	2	0	CNTNAP2	146449136	0.525000	0.26290	0.261000	0.24466	0.970000	0.65996	1.665000	0.37449	0.100000	0.17581	-0.376000	0.06991	ATG		PASS	0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			10	33	10	33	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147259238	147259238	+	Nonsense_Mutation	SNP	G	G	T	rs141064983	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:147259238G>T	ENST00000361727.3	+	12	2302	c.1786G>T	c.(1786-1788)Gag>Tag	p.E596*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	596	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.E596*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCTATCTACGAGCCTTCCTG	0.448										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1786-1788)GAG>TAG		cell recognition molecule Caspr2 precursor							109.0	103.0	105.0					7																	147259238		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259238G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1786G>T	7.37:g.147259238G>T	ENSP00000354778:p.Glu596*	HNSCC(39;0.1)					p.E596*	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2302	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	596			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.1786G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	46	12.268192	0.99652	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.9092	0.92475	0.0:0.0:1.0:0.0	.	.	.	.	X	596	.	ENSP00000354778:E596X	E	+	1	0	CNTNAP2	146890171	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.662000	0.98603	2.797000	0.96272	0.655000	0.94253	GAG		PASS	0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	46	4	46	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147336352	147336352	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:147336352G>T	ENST00000361727.3	+	13	2568	c.2052G>T	c.(2050-2052)caG>caT	p.Q684H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	684	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q684H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGCGAGCAGTATGTCTCCT	0.463										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2050-2052)CAG>CAT		cell recognition molecule Caspr2 precursor							123.0	97.0	106.0					7																	147336352		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336352G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2052G>T	7.37:g.147336352G>T	ENSP00000354778:p.Gln684His	HNSCC(39;0.1)					p.Q684H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2568	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	684			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2052G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663018	0.67700	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.14893	2.47;2.47	5.74	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.53190	0.1781	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67852	-0.5563	10	0.87932	D	0	.	14.1192	0.65175	0.0732:0.0:0.9268:0.0	.	684	Q9UHC6	CNTP2_HUMAN	H	684;75	ENSP00000354778:Q684H;ENSP00000392208:Q75H	ENSP00000354778:Q684H	Q	+	3	2	CNTNAP2	146967285	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	5.695000	0.68279	1.568000	0.49683	0.561000	0.74099	CAG		PASS	0.463	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	25	4	25	---	---	---	---
GIMAP7	168537	broad.mit.edu	37	7	150217741	150217741	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:150217741C>A	ENST00000313543.4	+	2	836	c.679C>A	c.(679-681)Caa>Aaa	p.Q227K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	227					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.Q227K(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACACTGACCAATTAAATGA	0.338																																						uc003whk.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(679-681)CAA>AAA		GTPase, IMAP family member 7							61.0	62.0	61.0					7																	150217741		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217741C>A	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.679C>A	7.37:g.150217741C>A	ENSP00000315474:p.Gln227Lys						p.Q227K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	809	+			227						Missense_Mutation	SNP	ENST00000313543.4	37	c.679C>A	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	C	9.546	1.114646	0.20795	.	.	ENSG00000179144	ENST00000313543	T	0.61158	0.13	4.88	1.97	0.26223	.	1.106400	0.07036	N	0.829280	T	0.44456	0.1294	L	0.43152	1.355	0.09310	N	1	P	0.35077	0.483	B	0.24974	0.057	T	0.18304	-1.0341	10	0.24483	T	0.36	.	8.1079	0.30896	0.1653:0.4718:0.3629:0.0	.	227	Q8NHV1	GIMA7_HUMAN	K	227	ENSP00000315474:Q227K	ENSP00000315474:Q227K	Q	+	1	0	GIMAP7	149848674	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.728000	0.01858	0.227000	0.20999	-0.211000	0.12701	CAA		PASS	0.338	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		7	93	7	93	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151880108	151880108	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr7:151880108G>T	ENST00000262189.6	-	35	5434	c.5216C>A	c.(5215-5217)cCt>cAt	p.P1739H	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1739H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1739	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1739H(4)									TTGCTTTAAAGGATCTTTAAA	0.338																																						uc003wla.2										N							medulloblastoma		4	Substitution - Missense(4)		lung(4)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(5215-5217)CCT>CAT		myeloid/lymphoid or mixed-lineage leukemia 3							201.0	202.0	201.0					7																	151880108		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151880108G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5216C>A	7.37:g.151880108G>T	ENSP00000262189:p.Pro1739His					MLL3_uc003wkz.2_Missense_Mutation_p.P800H	p.P1739H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	5435	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1739			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5216C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942412	0.53079	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89875	-2.56;-2.58	4.7	4.7	0.59300	.	0.000000	0.44688	D	0.000429	D	0.92912	0.7745	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93555	0.6890	10	0.72032	D	0.01	.	18.5294	0.90986	0.0:0.0:1.0:0.0	.	1739;800	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	1739	ENSP00000262189:P1739H;ENSP00000347325:P1739H	ENSP00000262189:P1739H	P	-	2	0	MLL3	151511041	1.000000	0.71417	0.929000	0.37066	0.875000	0.50365	9.086000	0.94088	2.551000	0.86045	0.563000	0.77884	CCT		PASS	0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	201	9	201	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165276	3165276	+	Silent	SNP	C	C	A	rs191537593	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:3165276C>A	ENST00000520002.1	-	26	4449	c.3894G>T	c.(3892-3894)ccG>ccT	p.P1298P	CSMD1_ENST00000537824.1_Silent_p.P1297P|CSMD1_ENST00000542608.1_Silent_p.P1297P|CSMD1_ENST00000602723.1_Silent_p.P1298P|CSMD1_ENST00000602557.1_Silent_p.P1298P|CSMD1_ENST00000400186.3_Silent_p.P1298P|CSMD1_ENST00000539096.1_Silent_p.P1297P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1298	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P1026P(2)|p.P1297P(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGTCATACGGAGCTGGAT	0.468																																						uc011kwk.1																			3	Substitution - coding silent(3)		lung(2)|stomach(1)	breast(20)|large_intestine(5)	25						c.(3892-3894)CCG>CCT		CUB and Sushi multiple domains 1 precursor							174.0	174.0	174.0					8																	3165276		2019	4188	6207	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3165276C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3894G>T	8.37:g.3165276C>A						CSMD1_uc011kwj.1_Silent_p.P690P|CSMD1_uc003wqe.2_Silent_p.P454P	p.P1298P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	25	4284	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1298			Extracellular (Potential).|CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3894G>T		.	.	.	.	.	.	.	.	.	.	A	7.836	0.720948	0.15372	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.61	-7.39	0.01402	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37430	-0.9706	4	.	.	.	.	1.851	0.03169	0.2833:0.1572:0.0902:0.4694	.	.	.	.	L	778	.	.	V	-	1	0	CSMD1	3152683	0.000000	0.05858	0.237000	0.24090	0.792000	0.44763	-2.518000	0.00953	-1.942000	0.01040	-1.218000	0.01608	GTA		PASS	0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	91	5	91	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289033	6289033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:6289033G>T	ENST00000344683.5	+	4	323	c.247G>T	c.(247-249)Gga>Tga	p.G83*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.G83*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.G83*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	83	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.G83*(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGGACAGCTGGAGCACACAT	0.318																																					Colon(95;1448 1467 8277 34473 35819)	uc003wqi.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(247-249)GGA>TGA		microcephalin							130.0	128.0	129.0					8																	6289033		1871	4103	5974	SO:0001587	stop_gained	79648					microtubule organizing center		g.chr8:6289033G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.247G>T	8.37:g.6289033G>T	ENSP00000342924:p.Gly83*					MCPH1_uc003wqh.2_Nonsense_Mutation_p.G83*|MCPH1_uc011kwl.1_Nonsense_Mutation_p.G83*	p.G83*	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	315	+		Hepatocellular(245;0.0663)	83			BRCT 1.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	c.247G>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363479	0.61513	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.34	5.34	0.76211	.	0.297690	0.31721	N	0.007169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-31.9739	16.8937	0.86094	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000342924:G83X	G	+	1	0	MCPH1	6276441	1.000000	0.71417	0.681000	0.30009	0.006000	0.05464	4.258000	0.58822	2.657000	0.90304	0.655000	0.94253	GGA		PASS	0.318	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		7	126	7	126	---	---	---	---
MICU3	286097	broad.mit.edu	37	8	16921702	16921702	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:16921702C>A	ENST00000318063.5	+	2	533	c.491C>A	c.(490-492)aCt>aAt	p.T164N		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	164						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.T164N(1)									TTATTCATGACTCCGTATGAT	0.353																																						uc003wxd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(490-492)ACT>AAT		EF-hand domain family, member A2							143.0	128.0	133.0					8																	16921702		2203	4300	6503	SO:0001583	missense	286097					integral to membrane	calcium ion binding	g.chr8:16921702C>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.491C>A	8.37:g.16921702C>A	ENSP00000321455:p.Thr164Asn						p.T164N	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	2	533	+			164					Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.491C>A	CCDS5999.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.7|21.7|21.7	4.185694|4.185694|4.185694	0.78789|0.78789|0.78789	.|.|.	.|.|.	ENSG00000155970|ENSG00000155970|ENSG00000155970	ENST00000517398|ENST00000519044|ENST00000318063	.|.|T	.|.|0.46451	.|.|0.87	4.83|4.83|4.83	4.83|4.83|4.83	0.62350|0.62350|0.62350	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.70072|0.70072|0.70072	0.3182|0.3182|0.3182	M|M|M	0.87547|0.87547|0.87547	2.89|2.89|2.89	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.76494	.|.|0.999	.|.|D	.|.|0.80764	.|.|0.994	T|T|T	0.76181|0.76181|0.76181	-0.3053|-0.3053|-0.3053	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-14.0436|-14.0436|-14.0436	18.4|18.4|18.4	0.90513|0.90513|0.90513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|164	.|.|Q86XE3	.|.|EFHA2_HUMAN	E|I|N	3|22|164	.|.|ENSP00000321455:T164N	.|.|ENSP00000321455:T164N	D|L|T	+|+|+	3|1|2	2|0|0	EFHA2|EFHA2|EFHA2	16966073|16966073|16966073	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	6.206000|6.206000|6.206000	0.72154|0.72154|0.72154	2.612000|2.612000|2.612000	0.88384|0.88384|0.88384	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|CTC|ACT		PASS	0.353	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		6	100	6	100	---	---	---	---
NAT2	10	broad.mit.edu	37	8	18258273	18258273	+	Nonsense_Mutation	SNP	G	G	T	rs369191649		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:18258273G>T	ENST00000286479.3	+	2	867	c.760G>T	c.(760-762)Gag>Tag	p.E254*	NAT2_ENST00000520116.1_Nonsense_Mutation_p.E124*	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	254					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.E254*(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AGATCTGGTCGAGTTTAAAAC	0.408									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc003wyw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(760-762)GAG>TAG		N-acetyltransferase 2							50.0	53.0	52.0					8																	18258273		2203	4300	6503	SO:0001587	stop_gained	10	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258273G>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.760G>T	8.37:g.18258273G>T	ENSP00000286479:p.Glu254*						p.E254*	NM_000015	NP_000006	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	867	+			254					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Nonsense_Mutation	SNP	ENST00000286479.3	37	c.760G>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679654	0.29783	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	.	.	.	2.71	1.83	0.25207	.	0.296810	0.30676	N	0.009108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.4528	0.16574	0.1599:0.0:0.8401:0.0	.	.	.	.	X	254;124	.	ENSP00000286479:E254X	E	+	1	0	NAT2	18302553	0.998000	0.40836	0.976000	0.42696	0.049000	0.14656	2.663000	0.46774	0.699000	0.31761	0.436000	0.28706	GAG		PASS	0.408	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		5	66	5	66	---	---	---	---
HR	55806	broad.mit.edu	37	8	21984736	21984736	+	Silent	SNP	G	G	T	rs202057113	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:21984736G>T	ENST00000381418.4	-	3	2699	c.1219C>A	c.(1219-1221)Cgg>Agg	p.R407R	HR_ENST00000312841.8_Silent_p.R407R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	407					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R407R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCCCGGAGCCGAGCAACCGGC	0.652																																						uc003xas.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1219-1221)CGG>AGG		hairless protein isoform a							63.0	75.0	71.0					8																	21984736		2201	4299	6500	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21984736G>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1219C>A	8.37:g.21984736G>T						HR_uc003xat.2_Silent_p.R407R	p.R407R	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	1884	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	407					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1219C>A	CCDS6022.1																																																																																				PASS	0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			4	44	4	44	---	---	---	---
EGR3	1960	broad.mit.edu	37	8	22548495	22548495	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:22548495G>C	ENST00000317216.2	-	2	1012	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.R181G|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	219					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|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.R219G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGGTTGACCCGGATGGGGTCC	0.602																																						uc003xcm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CGG>GGG		early growth response 3							57.0	63.0	61.0					8																	22548495		2203	4300	6503	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548495G>C	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.655C>G	8.37:g.22548495G>C	ENSP00000318057:p.Arg219Gly					EGR3_uc011kzn.1_Missense_Mutation_p.R181G|EGR3_uc011kzo.1_Missense_Mutation_p.R165G	p.R219G	NM_004430	NP_004421	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	1013	-		Prostate(55;0.0421)|Breast(100;0.102)	219					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.655C>G	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814832	0.50527	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.10005	2.92;2.94	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.79123	2.44	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.02691	-1.1123	10	0.87932	D	0	-14.1078	12.2154	0.54404	0.0:0.0:0.8299:0.1701	.	181;219	E7EW38;Q06889	.;EGR3_HUMAN	G	219;181;60	ENSP00000318057:R219G;ENSP00000430310:R181G	ENSP00000318057:R219G	R	-	1	2	EGR3	22604440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.222000	0.51223	2.655000	0.90218	0.655000	0.94253	CGG		PASS	0.602	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		9	36	9	36	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771448	24771448	+	Missense_Mutation	SNP	G	G	T	rs373780783		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:24771448G>T	ENST00000221166.5	+	1	924	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.V48L|RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.V48L|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	48	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.V48L(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCCAGCACCGTGTCCTCCTC	0.692																																						uc003xed.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(142-144)GTG>TTG		neurofilament, medium polypeptide 150kDa isoform							26.0	28.0	27.0					8																	24771448		2150	4212	6362	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771448G>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.142G>T	8.37:g.24771448G>T	ENSP00000221166:p.Val48Leu					NEFM_uc011lac.1_Missense_Mutation_p.V48L|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	p.V48L	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	175	+		Prostate(55;0.157)	48			Head.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.142G>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315723	0.40996	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.83506	-1.73;-1.67;-1.7	3.97	2.14	0.27477	Intermediate filament head, DNA-binding domain (1);	0.000000	0.42420	D	0.000716	T	0.78616	0.4311	N	0.25890	0.77	0.37928	D	0.931918	P;B	0.51791	0.948;0.051	P;B	0.56216	0.794;0.034	T	0.75534	-0.3284	10	0.28530	T	0.3	.	8.0342	0.30482	0.2694:0.0:0.7306:0.0	.	48;48	E7EMV2;P07197	.;NFM_HUMAN	L	48	ENSP00000221166:V48L;ENSP00000427872:V48L;ENSP00000410137:V48L	ENSP00000221166:V48L	V	+	1	0	NEFM	24827353	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.975000	0.40569	0.994000	0.38892	0.467000	0.42956	GTG		PASS	0.692	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		4	17	4	17	---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30332342	30332342	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:30332342G>T	ENST00000320203.4	+	2	696	c.114G>T	c.(112-114)cgG>cgT	p.R38R	RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R38R|RBPMS_ENST00000287771.5_Silent_p.R38R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.R38R|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.R38R|RBPMS_ENST00000538486.1_Silent_p.R38R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	38	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R38R(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCAAACCTCGGGAGCTCTATC	0.398																																						uc003xic.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(112-114)CGG>CGT		RNA-binding protein with multiple splicing							169.0	174.0	172.0					8																	30332342		2203	4300	6503	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30332342G>T	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.114G>T	8.37:g.30332342G>T						RBPMS_uc003xid.1_Silent_p.R38R|RBPMS_uc003xie.1_Silent_p.R38R|RBPMS_uc003xif.1_5'Flank|RBPMS_uc011lba.1_Silent_p.R38R|RBPMS_uc003xib.2_Silent_p.R38R|RBPMS_uc010lvh.1_5'UTR	p.R38R	NM_006867	NP_006858	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	2	779	+			38			RRM.		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.114G>T	CCDS6077.1																																																																																				PASS	0.398	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			7	148	7	148	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37697062	37697062	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:37697062G>T	ENST00000412232.2	+	16	2446	c.2433G>T	c.(2431-2433)ttG>ttT	p.L811F	GPR124_ENST00000315215.7_Missense_Mutation_p.L594F	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	811					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L804F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCTGAACTTGTGCTTCCACA	0.582																																						uc003xkj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(2431-2433)TTG>TTT		G protein-coupled receptor 124 precursor							80.0	67.0	71.0					8																	37697062		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697062G>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2433G>T	8.37:g.37697062G>T	ENSP00000406367:p.Leu811Phe					GPR124_uc010lvy.2_Missense_Mutation_p.L594F	p.L811F	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2796	+			811			Helical; Name=2; (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2433G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933013	0.52866	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.49720	0.77;0.77	4.73	-0.999	0.10208	GPCR, family 2-like (1);	0.229124	0.37955	N	0.001862	T	0.34542	0.0901	N	0.04768	-0.165	0.41295	D	0.987006	D;D	0.76494	0.999;0.983	D;P	0.71656	0.974;0.899	T	0.35176	-0.9799	10	0.27082	T	0.32	-7.4025	3.3334	0.07092	0.1262:0.3631:0.3181:0.1926	.	594;811	Q96PE1-2;Q96PE1	.;GP124_HUMAN	F	804;594;811	ENSP00000323508:L594F;ENSP00000406367:L811F	ENSP00000323508:L594F	L	+	3	2	GPR124	37816220	0.998000	0.40836	0.986000	0.45419	0.913000	0.54294	0.587000	0.23909	-0.313000	0.08728	-0.122000	0.15005	TTG		PASS	0.582	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	21	4	21	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37732086	37732086	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:37732086C>A	ENST00000330843.4	-	3	1581	c.1569G>T	c.(1567-1569)ccG>ccT	p.P523P	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Silent_p.P375P|RAB11FIP1_ENST00000524118.1_Silent_p.P375P|RAB11FIP1_ENST00000287263.4_Silent_p.P523P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	523					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.P523P(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTGGAGGTCTCGGTTCAGACT	0.552																																						uc003xkm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1567-1569)CCG>CCT		RAB11 family interacting protein 1 isoform 3							72.0	71.0	72.0					8																	37732086		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732086C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1569G>T	8.37:g.37732086C>A						RAB11FIP1_uc010lvz.1_Silent_p.P371P|RAB11FIP1_uc003xkn.1_Silent_p.P523P|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.P371P	p.P523P	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1613	-		Lung NSC(58;0.118)|all_lung(54;0.195)	523					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1569G>T	CCDS34882.1																																																																																				PASS	0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	62	5	62	---	---	---	---
PLEKHA2	59339	broad.mit.edu	37	8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:38810819G>T	ENST00000420274.1	+	9	941	c.707G>T	c.(706-708)cGa>cTa	p.R236L	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	236	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.R236L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463																																						uc003xmi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)CGA>CTA		pleckstrin homology domain containing, family A							217.0	208.0	211.0					8																	38810819		1949	4134	6083	SO:0001583	missense	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38810819G>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.707G>T	8.37:g.38810819G>T	ENSP00000393860:p.Arg236Leu					PLEKHA2_uc011lce.1_Missense_Mutation_p.R186L	p.R236L	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		9	941	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	236			PH 2.			Missense_Mutation	SNP	ENST00000420274.1	37	c.707G>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278585	0.59758	.	.	ENSG00000169499	ENST00000420274;ENST00000535929	T	0.12569	2.67	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112988	0.56097	D	0.000033	T	0.16642	0.0400	L	0.45744	1.44	0.39510	D	0.968341	P;P	0.39576	0.679;0.679	B;B	0.42916	0.402;0.402	T	0.00857	-1.1538	10	0.62326	D	0.03	.	10.8469	0.46748	0.0864:0.0:0.9136:0.0	.	236;236	Q9HB19;A8K727	PKHA2_HUMAN;.	L	236;186	ENSP00000393860:R236L	ENSP00000393860:R236L	R	+	2	0	PLEKHA2	38929976	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	3.702000	0.54800	2.778000	0.95560	0.655000	0.94253	CGA		PASS	0.463	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623		6	117	6	117	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39627087	39627087	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:39627087T>A	ENST00000265708.4	-	12	1139	c.1036A>T	c.(1036-1038)Agt>Tgt	p.S346C	ADAM2_ENST00000521880.1_Missense_Mutation_p.S346C|ADAM2_ENST00000379853.2_Missense_Mutation_p.S220C|ADAM2_ENST00000347580.4_Missense_Mutation_p.S327C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S346C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCACACCACTGAAATGACTA	0.383																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1036-1038)AGT>TGT		ADAM metallopeptidase domain 2 proprotein							71.0	63.0	65.0					8																	39627087		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39627087T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1036A>T	8.37:g.39627087T>A	ENSP00000265708:p.Ser346Cys					ADAM2_uc003xnk.2_Missense_Mutation_p.S327C|ADAM2_uc011lck.1_Missense_Mutation_p.S346C|ADAM2_uc003xnl.2_Missense_Mutation_p.S220C	p.S346C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1111	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	346			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1036A>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891846	0.72524	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.36524	0.0970	M	0.87097	2.86	0.33187	D	0.550348	P;D;P;P	0.89917	0.915;1.0;0.896;0.915	P;D;P;P	0.75484	0.713;0.986;0.589;0.791	T	0.56956	-0.7893	8	.	.	.	.	11.5856	0.50916	0.0:0.0:0.0:1.0	.	346;220;327;346	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	C	327;220;346;346	ENSP00000343854:S327C;ENSP00000369182:S220C;ENSP00000265708:S346C;ENSP00000429352:S346C	.	S	-	1	0	ADAM2	39746244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.379000	0.34340	2.050000	0.60909	0.528000	0.53228	AGT		PASS	0.383	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		6	19	6	19	---	---	---	---
NKAIN3	286183	broad.mit.edu	37	8	63492131	63492131	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:63492131C>A	ENST00000523211.1	+	2	220	c.88C>A	c.(88-90)Ctt>Att	p.L30I	NKAIN3_ENST00000328472.5_Missense_Mutation_p.L30I|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L30I(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTTTGACTTCCTTGGTTTCCA	0.363																																						uc010lyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CTT>ATT		Na+/K+ transporting ATPase interacting 3							177.0	170.0	172.0					8																	63492131		1844	4096	5940	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63492131C>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.88C>A	8.37:g.63492131C>A	ENSP00000429073:p.Leu30Ile						p.L30I	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			2	220	+	Breast(64;0.127)	Lung NSC(129;0.187)	30						Missense_Mutation	SNP	ENST00000523211.1	37	c.88C>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100686	0.56183	.	.	ENSG00000185942	ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.20738	2.05;2.05;2.05	5.85	4.98	0.66077	.	0.000000	0.64402	D	0.000004	T	0.52741	0.1753	M	0.88241	2.94	0.53005	D	0.999966	D	0.76494	0.999	D	0.87578	0.998	T	0.62803	-0.6777	10	0.87932	D	0	-7.547	14.0296	0.64606	0.0:0.9278:0.0:0.0722	.	30	Q8N8D7	NKAI3_HUMAN	I	30	ENSP00000429073:L30I;ENSP00000429393:L30I;ENSP00000333627:L30I	ENSP00000333627:L30I	L	+	1	0	NKAIN3	63654685	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	7.805000	0.86005	1.488000	0.48433	-0.142000	0.14014	CTT		PASS	0.363	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		9	172	9	172	---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66639131	66639131	+	Nonsense_Mutation	SNP	G	G	T	rs200534094	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:66639131G>T	ENST00000401827.3	-	9	1342	c.899C>A	c.(898-900)tCa>tAa	p.S300*	PDE7A_ENST00000518667.1_5'Flank|PDE7A_ENST00000379419.4_Nonsense_Mutation_p.S274*|PDE7A_ENST00000396642.3_Nonsense_Mutation_p.S300*	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	300	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.S274*(1)|p.S300*(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGGCAGATGTGAGAATAAGCC	0.348																																						uc003xvq.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(898-900)TCA>TAA		phosphodiesterase 7A isoform b	Dyphylline(DB00651)|Ketotifen(DB00920)						123.0	123.0	123.0					8																	66639131		2203	4300	6503	SO:0001587	stop_gained	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66639131G>T	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.899C>A	8.37:g.66639131G>T	ENSP00000385632:p.Ser300*					PDE7A_uc003xvr.2_Nonsense_Mutation_p.S300*|PDE7A_uc003xvp.2_Nonsense_Mutation_p.S274*	p.S300*	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		9	911	-			300			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Nonsense_Mutation	SNP	ENST00000401827.3	37	c.899C>A	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042777	0.93685	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	.	.	.	5.88	4.99	0.66335	.	0.120858	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	16.9258	0.86176	0.0:0.128:0.872:0.0	.	.	.	.	X	300;274;300	.	ENSP00000368730:S274X	S	-	2	0	PDE7A	66801685	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.837000	0.99465	1.447000	0.47661	0.591000	0.81541	TCA		PASS	0.348	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			8	194	8	194	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	67998343	67998343	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:67998343C>A	ENST00000262210.5	+	4	440	c.409C>A	c.(409-411)Cag>Aag	p.Q137K	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_5'Flank	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	137					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.Q137K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTATCTTACTCAGGTAATGAG	0.303																																						uc003xxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(409-411)CAG>AAG		centrosome spindle pole associated protein 1							100.0	97.0	98.0					8																	67998343		1820	4065	5885	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67998343C>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.409C>A	8.37:g.67998343C>A	ENSP00000262210:p.Gln137Lys					CSPP1_uc003xxg.1_Missense_Mutation_p.Q137K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.Q137K|CSPP1_uc003xxk.2_5'UTR	p.Q137K	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		4	440	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	137					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.409C>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194435	0.78902	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.64085	-0.08;1.5	5.6	5.6	0.85130	.	0.000000	0.31721	U	0.007167	T	0.78181	0.4243	M	0.63428	1.95	0.80722	D	1	D;D;D	0.63046	0.992;0.979;0.979	D;D;D	0.72982	0.979;0.946;0.946	T	0.78420	-0.2211	10	0.59425	D	0.04	-8.4404	19.6142	0.95626	0.0:1.0:0.0:0.0	.	137;137;137	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	K	101;137;137	ENSP00000429546:Q101K;ENSP00000262210:Q137K	ENSP00000262210:Q137K	Q	+	1	0	CSPP1	68160897	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.479000	0.45197	2.631000	0.89168	0.585000	0.79938	CAG		PASS	0.303	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		7	120	7	120	---	---	---	---
TRAM1	23471	broad.mit.edu	37	8	71495456	71495456	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:71495456G>A	ENST00000262213.2	-	10	1163	c.994C>T	c.(994-996)Cca>Tca	p.P332S	TRAM1_ENST00000536748.1_Missense_Mutation_p.P301S|TRAM1_ENST00000521049.1_5'Flank|TRAM1_ENST00000521425.1_Missense_Mutation_p.P246S	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	332					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P332S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTCACAGCTGGTGCCTGAAAA	0.398																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(994-996)CCA>TCA		translocation associated membrane protein 1							133.0	121.0	125.0					8																	71495456		2203	4300	6503	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71495456G>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.994C>T	8.37:g.71495456G>A	ENSP00000262213:p.Pro332Ser					TRAM1_uc011lfc.1_Missense_Mutation_p.P301S	p.P332S	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		10	1164	-			332			Cytoplasmic (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.994C>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	6.086	0.384138	0.11524	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	T;T;T	0.39229	1.09;1.67;1.67	5.21	4.33	0.51752	.	0.708670	0.14133	N	0.339261	T	0.19366	0.0465	N	0.08118	0	0.36171	D	0.848792	B	0.06786	0.001	B	0.08055	0.003	T	0.12218	-1.0556	10	0.05436	T	0.98	.	9.4144	0.38512	0.0747:0.1452:0.7801:0.0	.	332	Q15629	TRAM1_HUMAN	S	246;332;301	ENSP00000428052:P246S;ENSP00000262213:P332S;ENSP00000439359:P301S	ENSP00000262213:P332S	P	-	1	0	TRAM1	71658010	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	6.500000	0.73687	1.415000	0.47037	0.655000	0.94253	CCA		PASS	0.398	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		15	45	15	45	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72958840	72958840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:72958840C>A	ENST00000262209.4	-	17	2176	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	657					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.E657*(1)|p.E657K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATTATACTCGATCTGTAGA	0.299																																						uc003xza.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1969-1971)GAG>TAG		ankyrin-like protein 1	Menthol(DB00825)						108.0	116.0	113.0					8																	72958840		2203	4300	6503	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72958840C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1969G>T	8.37:g.72958840C>A	ENSP00000262209:p.Glu657*					uc011lff.1_Intron|uc003xyy.2_Intron	p.E657*	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2144	-			657			Cytoplasmic (Potential).		A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.1969G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159220	0.94686	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	4.89	3.94	0.45596	.	0.155894	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-23.9954	14.9009	0.70678	0.0:0.8561:0.1439:0.0	.	.	.	.	X	509;657	.	ENSP00000262209:E657X	E	-	1	0	TRPA1	73121394	0.995000	0.38212	0.968000	0.41197	0.124000	0.20399	3.402000	0.52608	2.402000	0.81655	0.555000	0.69702	GAG		PASS	0.299	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		5	102	5	102	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85441608	85441608	+	Missense_Mutation	SNP	T	T	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:85441608T>G	ENST00000521268.1	+	2	1157	c.52T>G	c.(52-54)Tcc>Gcc	p.S18A	RALYL_ENST00000522455.1_Missense_Mutation_p.S18A|RALYL_ENST00000517638.1_Missense_Mutation_p.S31A|RALYL_ENST00000518566.1_Missense_Mutation_p.S18A|RALYL_ENST00000521695.1_Missense_Mutation_p.S18A	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	18							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S18A(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGACCCCAAGTCCATCAACTC	0.383																																						uc003ycq.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(52-54)TCC>GCC		RALY RNA binding protein-like isoform 2							66.0	71.0	69.0					8																	85441608		2012	4203	6215	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441608T>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.52T>G	8.37:g.85441608T>G	ENSP00000430367:p.Ser18Ala					RALYL_uc003ycr.3_Missense_Mutation_p.S18A|RALYL_uc003ycs.3_Missense_Mutation_p.S18A|RALYL_uc010lzy.2_Missense_Mutation_p.S18A|RALYL_uc003yct.3_Missense_Mutation_p.S31A	p.S18A	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			3	468	+			18					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.52T>G	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.340815	0.60963	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	M	0.68728	2.09	0.80722	D	1	B;B;P	0.37688	0.243;0.33;0.605	B;B;P	0.44477	0.171;0.237;0.451	T	0.52845	-0.8521	10	0.48119	T	0.1	.	15.5058	0.75739	0.0:0.0:0.0:1.0	.	18;31;18	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	A	18;18;18;18;18;18;31;18	ENSP00000427787:S18A;ENSP00000430394:S18A;ENSP00000428667:S18A;ENSP00000430367:S18A;ENSP00000430065:S18A;ENSP00000428711:S18A;ENSP00000430128:S31A;ENSP00000429284:S18A	ENSP00000430128:S31A	S	+	1	0	RALYL	85604163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.996000	0.88334	2.125000	0.65367	0.456000	0.33151	TCC		PASS	0.383	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			4	16	4	16	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99149137	99149137	+	Silent	SNP	C	C	A	rs560906969		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:99149137C>A	ENST00000401707.2	+	9	1398	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	POP1_ENST00000349693.3_Silent_p.S439S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	439					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.S439S(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGCCACTTTCCCACTCCATCC	0.383																																						uc003yij.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1315-1317)TCC>TCA		processing of precursor 1							182.0	180.0	181.0					8																	99149137		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99149137C>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1317C>A	8.37:g.99149137C>A						POP1_uc011lgv.1_Silent_p.S439S|POP1_uc003yik.2_Silent_p.S439S	p.S439S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		9	1417	+	Breast(36;1.78e-06)		439					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.1317C>A	CCDS6277.1																																																																																				PASS	0.383	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	132	7	132	---	---	---	---
RNF19A	25897	broad.mit.edu	37	8	101271234	101271234	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:101271234C>A	ENST00000519449.1	-	11	2383	c.2067G>T	c.(2065-2067)acG>acT	p.T689T	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Silent_p.T689T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	689	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T689T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGTCCTCTCTCGTCTCATTTA	0.423											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yjj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2065-2067)ACG>ACT		ring finger protein 19							300.0	258.0	272.0					8																	101271234		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101271234C>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2067G>T	8.37:g.101271234C>A			OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1357	RNF19A_uc003yjk.1_Silent_p.T689T	p.T689T	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2384	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		689			Interaction with CASR.		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.2067G>T	CCDS6286.1																																																																																				PASS	0.423	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		6	161	6	161	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101724590	101724590	+	Splice_Site	SNP	C	C	A	rs542121179		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:101724590C>A	ENST00000318607.5	-	7	2100	c.972G>T	c.(970-972)aaG>aaT	p.K324N	PABPC1_ENST00000519004.1_Splice_Site_p.K279N|PABPC1_ENST00000522387.1_Splice_Site_p.K292N|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	324	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.K324N(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GTTTTCTTACCTTTGCACTAG	0.308																																						uc003yjs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)AAG>AAT		poly(A) binding protein, cytoplasmic 1							145.0	158.0	153.0					8																	101724590		2203	4296	6499	SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724590C>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.972+1G>T	8.37:g.101724590C>A						PABPC1_uc011lhc.1_Missense_Mutation_p.K292N|PABPC1_uc011lhd.1_Missense_Mutation_p.K279N|PABPC1_uc003yjt.1_Missense_Mutation_p.K321N|PABPC1_uc003yju.2_RNA	p.K324N	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		7	1476	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		324			RRM 4.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.972G>T	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.2|23.2|23.2	4.391006|4.391006|4.391006	0.82902|0.82902|0.82902	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|T;T;T|.	.|0.17528|.	.|2.27;2.27;2.27|.	5.65|5.65|5.65	4.77|4.77|4.77	0.60923|0.60923|0.60923	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.086699|.	.|0.47852|.	.|D|.	.|0.000213|.	T|T|T	0.62208|0.62208|0.62208	0.2409|0.2409|0.2409	L|L|L	0.49256|0.49256|0.49256	1.55|1.55|1.55	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0|.	.|D;D;D|.	.|0.91635|.	.|0.999;0.999;0.999|.	T|T|T	0.60172|0.60172|0.60172	-0.7315|-0.7315|-0.7315	5|9|5	.|.|.	.|.|.	.|.|.	.|.|.	14.0156|14.0156|14.0156	0.64523|0.64523|0.64523	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.|.	.|292;324;324|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	C|N|M	157|324;324;279;292|193	.|ENSP00000313007:K324N;ENSP00000429594:K279N;ENSP00000429395:K292N|.	.|.|.	G|K|R	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101793766|101793766|101793766	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	5.986000|5.986000|5.986000	0.70563|0.70563|0.70563	1.497000|1.497000|1.497000	0.48584|0.48584|0.48584	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGT|AAG|AGG		PASS	0.308	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	Missense_Mutation	10	288	10	288	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103341406	103341406	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:103341406C>A	ENST00000520539.1	-	11	1844	c.1238G>T	c.(1237-1239)cGa>cTa	p.R413L	UBR5_ENST00000220959.4_Missense_Mutation_p.R413L|UBR5_ENST00000521922.1_Missense_Mutation_p.R407L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	413					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R413L(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAATGTTGCTCGTGGATGATG	0.308																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1237-1239)CGA>CTA		ubiquitin protein ligase E3 component n-recognin							194.0	195.0	195.0					8																	103341406		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103341406C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1238G>T	8.37:g.103341406C>A	ENSP00000429084:p.Arg413Leu					UBR5_uc003yks.1_Missense_Mutation_p.R413L	p.R413L	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		11	1271	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		413					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1238G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	c	27.1	4.797033	0.90453	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.80304	-1.36;-1.36;-1.36	4.94	4.94	0.65067	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	L	0.50333	1.59	0.58432	D	0.999999	P;P	0.45768	0.866;0.866	P;P	0.50082	0.63;0.63	D	0.85403	0.1132	10	0.72032	D	0.01	.	18.1526	0.89679	0.0:1.0:0.0:0.0	.	407;413	E7EMW7;O95071	.;UBR5_HUMAN	L	413;413;407	ENSP00000429084:R413L;ENSP00000220959:R413L;ENSP00000427819:R407L	ENSP00000220959:R413L	R	-	2	0	UBR5	103410582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.303000	0.77524	0.586000	0.80456	CGA		PASS	0.308	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		6	202	6	202	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103359276	103359276	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:103359276G>T	ENST00000520539.1	-	6	1037	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	UBR5_ENST00000220959.4_Missense_Mutation_p.S144Y|UBR5_ENST00000521922.1_Missense_Mutation_p.S144Y	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	144					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.S144Y(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGACCTACCAGAGGATCCTCC	0.502																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(430-432)TCT>TAT		ubiquitin protein ligase E3 component n-recognin							104.0	112.0	109.0					8																	103359276		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359276G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.431C>A	8.37:g.103359276G>T	ENSP00000429084:p.Ser144Tyr					UBR5_uc003yks.1_Missense_Mutation_p.S144Y	p.S144Y	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	464	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		144					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.431C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252477	0.95336	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49432	0.79;0.79;0.78	5.81	5.81	0.92471	.	0.061563	0.64402	D	0.000003	T	0.68256	0.2981	L	0.61218	1.895	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.71656	0.974;0.974	T	0.67047	-0.5769	10	0.62326	D	0.03	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	144;144	E7EMW7;O95071	.;UBR5_HUMAN	Y	144	ENSP00000429084:S144Y;ENSP00000220959:S144Y;ENSP00000427819:S144Y	ENSP00000220959:S144Y	S	-	2	0	UBR5	103428452	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.772000	0.98984	2.906000	0.99361	0.655000	0.94253	TCT		PASS	0.502	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		9	126	9	126	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104330888	104330888	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:104330888C>A	ENST00000358755.4	+	3	565	c.248C>A	c.(247-249)cCa>cAa	p.P83Q	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.P83Q|FZD6_ENST00000523739.1_Missense_Mutation_p.P51Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	83	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P83Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCATTTGTACCAACCTGCATA	0.353																																						uc003ylh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(247-249)CCA>CAA		frizzled 6 isoform a precursor							96.0	95.0	95.0					8																	104330888		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104330888C>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.248C>A	8.37:g.104330888C>A	ENSP00000351605:p.Pro83Gln					FZD6_uc003yli.2_Missense_Mutation_p.P83Q|FZD6_uc003ylj.2_Missense_Mutation_p.P83Q|FZD6_uc011lhn.1_Missense_Mutation_p.P49Q|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.P28Q	p.P83Q	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	532	+			83			FZ.|Extracellular (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.248C>A	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932516	0.92458	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.92699	-3.09;-3.09;-3.09	5.75	5.75	0.90469	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98175	1.0454	10	0.87932	D	0	.	19.9392	0.97153	0.0:1.0:0.0:0.0	.	28;83;83	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	Q	83;83;51;28	ENSP00000429055:P83Q;ENSP00000351605:P83Q;ENSP00000429528:P51Q	ENSP00000351605:P83Q	P	+	2	0	FZD6	104400064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.713000	0.92767	0.655000	0.94253	CCA		PASS	0.353	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		7	116	7	116	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104340586	104340586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:104340586G>T	ENST00000358755.4	+	5	1800	c.1483G>T	c.(1483-1485)Gga>Tga	p.G495*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.G190*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.G495*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.G463*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	495					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G495*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTTCTGGGTTGGAAGCAAAAA	0.348																																						uc003ylh.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1483-1485)GGA>TGA		frizzled 6 isoform a precursor							101.0	106.0	104.0					8																	104340586		2203	4300	6503	SO:0001587	stop_gained	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104340586G>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1483G>T	8.37:g.104340586G>T	ENSP00000351605:p.Gly495*					FZD6_uc003yli.2_Nonsense_Mutation_p.G495*|FZD6_uc003ylj.2_Nonsense_Mutation_p.G495*|FZD6_uc011lhn.1_Nonsense_Mutation_p.G461*|FZD6_uc011lho.1_Nonsense_Mutation_p.G190*|FZD6_uc011lhp.1_Nonsense_Mutation_p.G440*	p.G495*	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1767	+			495			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Nonsense_Mutation	SNP	ENST00000358755.4	37	c.1483G>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	40	8.143064	0.98675	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	.	.	.	5.31	5.31	0.75309	.	0.260386	0.44688	D	0.000433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3404	0.94339	0.0:0.0:1.0:0.0	.	.	.	.	X	495;495;463;190;440	.	ENSP00000351605:G495X	G	+	1	0	FZD6	104409762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.888000	0.63164	2.631000	0.89168	0.467000	0.42956	GGA		PASS	0.348	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		7	104	7	104	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104897584	104897584	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:104897584A>G	ENST00000436393.2	+	2	332	c.91A>G	c.(91-93)Aga>Gga	p.R31G	RIMS2_ENST00000406091.3_Missense_Mutation_p.R253G|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R61G|RIMS2_ENST00000507740.1_Missense_Mutation_p.R61G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	284	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R61G(2)|p.R289G(1)|p.R253G(1)|p.R31G(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGGAAGAAAGAGAGGAATA	0.403										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(91-93)AGA>GGA		regulating synaptic membrane exocytosis 2							82.0	73.0	76.0					8																	104897584		1878	4110	5988	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897584A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.91A>G	8.37:g.104897584A>G	ENSP00000390665:p.Arg31Gly	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R253G|RIMS2_uc003ylw.2_Missense_Mutation_p.R61G|RIMS2_uc003ylq.2_Missense_Mutation_p.R61G|RIMS2_uc003ylr.2_Missense_Mutation_p.R61G	p.R31G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	332	+			284					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.91A>G		.	.	.	.	.	.	.	.	.	.	A	15.19	2.759150	0.49468	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.34275	1.37;1.37;2.04;2.15;2.15;2.08;2.49	5.31	5.31	0.75309	.	.	.	.	.	T	0.40398	0.1115	L	0.55990	1.75	0.80722	D	1	B;B;B;P;B	0.47302	0.002;0.001;0.008;0.893;0.005	B;B;B;B;B	0.43990	0.002;0.002;0.007;0.438;0.002	T	0.41610	-0.9499	9	0.87932	D	0	.	15.2535	0.73568	1.0:0.0:0.0:0.0	.	284;31;61;61;253	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	G	253;284;253;284;61;61;61;61;31	ENSP00000427018:R253G;ENSP00000384892:R253G;ENSP00000425205:R61G;ENSP00000262231:R61G;ENSP00000423559:R61G;ENSP00000386228:R61G;ENSP00000390665:R31G	ENSP00000262231:R61G	R	+	1	2	RIMS2	104966760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.088000	0.64486	2.002000	0.58637	0.377000	0.23210	AGA		PASS	0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		7	30	7	30	---	---	---	---
ENY2	56943	broad.mit.edu	37	8	110355665	110355665	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:110355665C>A	ENST00000521662.1	+	5	334	c.246C>A	c.(244-246)ctC>ctA	p.L82L	ENY2_ENST00000521688.1_Silent_p.L87L|ENY2_ENST00000520147.1_3'UTR|ENY2_ENST00000522407.1_3'UTR					enhancer of yellow 2 homolog (Drosophila)									p.L87L(1)		endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AGAAGGAGCTCCTACAAAGAA	0.338																																						uc003ynd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CTC>CTA		enhancer of yellow 2 homolog							166.0	160.0	162.0					8																	110355665		1839	4081	5920	SO:0001819	synonymous_variant	56943				histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity	g.chr8:110355665C>A		CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000521662.1:c.246C>A	8.37:g.110355665C>A						ENY2_uc003ync.2_Silent_p.L82L	p.L87L	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		5	323	+	all_neural(195;0.219)		87						Silent	SNP	ENST00000521662.1	37	c.261C>A	CCDS55270.1																																																																																				PASS	0.338	ENY2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381002.1	NM_020189		7	190	7	190	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476645	110476645	+	Silent	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:110476645A>T	ENST00000378402.5	+	49	7688	c.7584A>T	c.(7582-7584)atA>atT	p.I2528I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2528					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I2530I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTTTTTATAGAAGATGGTA	0.388										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7582-7584)ATA>ATT		fibrocystin L precursor							82.0	78.0	79.0					8																	110476645		1852	4095	5947	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476645A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7584A>T	8.37:g.110476645A>T		HNSCC(38;0.096)					p.I2528I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7688	+			2528			PbH1 1.|Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.7584A>T	CCDS47911.1																																																																																				PASS	0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	37	5	37	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110509432	110509432	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:110509432C>A	ENST00000378402.5	+	65	10634	c.10530C>A	c.(10528-10530)gcC>gcA	p.A3510A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3510					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A3512A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGGAATGGCCATTTTTCCAA	0.353										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10528-10530)GCC>GCA		fibrocystin L precursor							117.0	109.0	112.0					8																	110509432		1854	4098	5952	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509432C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10530C>A	8.37:g.110509432C>A		HNSCC(38;0.096)					p.A3510A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		65	10634	+			3510			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10530C>A	CCDS47911.1																																																																																				PASS	0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	121	8	121	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113241017	113241017	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:113241017A>C	ENST00000297405.5	-	70	11176	c.10932T>G	c.(10930-10932)ttT>ttG	p.F3644L	CSMD3_ENST00000352409.3_Missense_Mutation_p.F3574L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F3475L|CSMD3_ENST00000343508.3_Missense_Mutation_p.F3604L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3644						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F3604L(1)|p.F3644L(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						CAAATCCTGCAAATATAAGTG	0.308										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.(10930-10932)TTT>TTG		CUB and Sushi multiple domains 3 isoform 1							77.0	81.0	80.0					8																	113241017		2203	4296	6499	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113241017A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10932T>G	8.37:g.113241017A>C	ENSP00000297405:p.Phe3644Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.F2846L|CSMD3_uc003ynt.2_Missense_Mutation_p.F3604L|CSMD3_uc011lhx.1_Missense_Mutation_p.F3475L	p.F3644L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			70	11091	-			3644			Helical; (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10932T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	6.689	0.495775	0.12762	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.20332	2.4;2.4;2.41;2.08;2.41	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.12944	0.0314	L	0.27053	0.805	0.42244	D	0.991949	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.15052	0.012;0.003;0.001	T	0.05937	-1.0855	10	0.02654	T	1	.	11.9035	0.52697	0.8696:0.0:0.0:0.1304	.	3475;3644;3604	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3604;3644;2914;3475;3574	ENSP00000345799:F3604L;ENSP00000297405:F3644L;ENSP00000341558:F2914L;ENSP00000412263:F3475L;ENSP00000343124:F3574L	ENSP00000297405:F3644L	F	-	3	2	CSMD3	113310193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.142000	0.42177	2.288000	0.76882	0.482000	0.46254	TTT		PASS	0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	90	12	90	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113484930	113484930	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:113484930C>A	ENST00000297405.5	-	32	5529	c.5285G>T	c.(5284-5286)tGt>tTt	p.C1762F	CSMD3_ENST00000352409.3_Missense_Mutation_p.C1762F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1658F|AC024996.1_ENST00000582664.1_RNA|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1722F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1762	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C1762F(1)|p.C1722F(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						ACGACTTCCACAGGGCGCTAG	0.318										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.(5284-5286)TGT>TTT		CUB and Sushi multiple domains 3 isoform 1							81.0	79.0	79.0					8																	113484930		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484930C>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.5285G>T	8.37:g.113484930C>A	ENSP00000297405:p.Cys1762Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C1034F|CSMD3_uc003ynt.2_Missense_Mutation_p.C1722F|CSMD3_uc011lhx.1_Missense_Mutation_p.C1658F	p.C1762F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			32	5444	-			1762			Extracellular (Potential).|CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5285G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817478	0.70912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;D;T;D	0.97041	-0.2;-0.2;-4.22;-0.2;-3.69	5.07	5.07	0.68467	CUB (5);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	H	0.98487	4.245	0.53005	D	0.999965	D;D;D	0.76494	0.999;0.994;0.985	D;D;P	0.70227	0.968;0.943;0.792	D	0.98948	1.0793	10	0.87932	D	0	.	18.2401	0.89965	0.0:1.0:0.0:0.0	.	1658;1762;1722	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1722;1762;1102;1658;1762	ENSP00000345799:C1722F;ENSP00000297405:C1762F;ENSP00000341558:C1102F;ENSP00000412263:C1658F;ENSP00000343124:C1762F	ENSP00000297405:C1762F	C	-	2	0	CSMD3	113554106	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.289000	0.78701	2.630000	0.89119	0.591000	0.81541	TGT		PASS	0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	74	6	74	---	---	---	---
EIF3H	8667	broad.mit.edu	37	8	117658799	117658799	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:117658799C>A	ENST00000276682.4	-	9	1680	c.914G>T	c.(913-915)cGa>cTa	p.R305L	EIF3H_ENST00000521861.1_Missense_Mutation_p.R291L					eukaryotic translation initiation factor 3, subunit H									p.R291L(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGGTTCTCCTCGGCTCTGGCG	0.517																																						uc003yoa.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(871-873)CGA>CTA		eukaryotic translation initiation factor 3,							153.0	162.0	159.0					8																	117658799		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117658799C>A	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.914G>T	8.37:g.117658799C>A	ENSP00000276682:p.Arg305Leu					EIF3H_uc003yob.2_Missense_Mutation_p.R305L	p.R291L	NM_003756	NP_003747	O15372	EIF3H_HUMAN			7	898	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		291						Missense_Mutation	SNP	ENST00000276682.4	37	c.872G>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.716284	0.89205	.	.	ENSG00000147677	ENST00000521861;ENST00000276682	T;T	0.45668	0.89;0.89	5.98	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	L	0.27053	0.805	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.50049	0.629;0.629	T	0.21348	-1.0248	10	0.33940	T	0.23	-12.7906	17.2049	0.86915	0.0:0.8739:0.1261:0.0	.	305;291	B3KS98;O15372	.;EIF3H_HUMAN	L	291;305	ENSP00000429931:R291L;ENSP00000276682:R305L	ENSP00000276682:R305L	R	-	2	0	EIF3H	117727980	1.000000	0.71417	0.976000	0.42696	0.748000	0.42578	7.818000	0.86416	1.514000	0.48869	0.655000	0.94253	CGA		PASS	0.517	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		6	128	6	128	---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124546943	124546943	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:124546943C>A	ENST00000517956.1	-	2	419	c.228G>T	c.(226-228)caG>caT	p.Q76H	FBXO32_ENST00000443022.2_Splice_Site_p.Q76H	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	76					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.Q76H(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGGCTTACACTGAGTTTTGG	0.368																																						uc003yqr.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|lung(1)	6						c.(226-228)CAG>CAT		F-box only protein 32 isoform 1							235.0	213.0	220.0					8																	124546943		2203	4300	6503	SO:0001630	splice_region_variant	114907							g.chr8:124546943C>A	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.229+1G>T	8.37:g.124546943C>A						FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.Q76H	p.Q76H	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	420	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		76					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.228G>T	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481571	0.44147	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.20463	2.07;2.07	5.64	-3.06	0.05379	.	0.232716	0.46758	N	0.000280	T	0.15089	0.0364	L	0.45581	1.43	0.22489	N	0.999051	B;B	0.13145	0.001;0.007	B;B	0.17722	0.002;0.019	T	0.16188	-1.0411	10	0.42905	T	0.14	13.7505	8.6618	0.34097	0.0:0.4321:0.0957:0.4721	.	76;76	A4KYM0;Q969P5	.;FBX32_HUMAN	H	76	ENSP00000428205:Q76H;ENSP00000390790:Q76H	ENSP00000390790:Q76H	Q	-	3	2	FBXO32	124616124	0.018000	0.18449	0.954000	0.39281	0.800000	0.45204	-1.018000	0.03626	-0.606000	0.05746	-0.145000	0.13849	CAG		PASS	0.368	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		Missense_Mutation	6	90	6	90	---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125531059	125531059	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:125531059C>A	ENST00000276692.6	-	4	239	c.202G>T	c.(202-204)Ggt>Tgt	p.G68C	TATDN1_ENST00000519548.1_Splice_Site_p.G21C|TATDN1_ENST00000605953.1_Splice_Site_p.G68C|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Intron	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	68					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.G68C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGAGGATACCATTTGTTTGT	0.299																																						uc003yrd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)GGT>TGT		TatD DNase domain containing 1 isoform a							68.0	71.0	70.0					8																	125531059		2202	4300	6502	SO:0001630	splice_region_variant	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125531059C>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.202+1G>T	8.37:g.125531059C>A						TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Missense_Mutation_p.G21C|TATDN1_uc003yrf.2_Missense_Mutation_p.G68C	p.G68C	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	244	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		68					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.202G>T	CCDS6351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065175|4.065175	0.76187|0.76187	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000523888|ENST00000519232	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.432805|.	0.27802|.	N|.	0.017794|.	T|T	0.70369|0.70369	0.3216|0.3216	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	D;P|.	0.56521|.	0.976;0.638|.	P;B|.	0.54856|.	0.762;0.444|.	T|T	0.66416|0.66416	-0.5929|-0.5929	9|5	0.66056|.	D|.	0.02|.	-4.1238|-4.1238	19.25|19.25	0.93921|0.93921	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	68;68|.	E5RG17;Q6P1N9|.	.;TATD1_HUMAN|.	C|L	68;21;68;21|97	.|.	ENSP00000276692:G68C|.	G|W	-|-	1|2	0|0	TATDN1|TATDN1	125600240|125600240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.033000|6.033000	0.70925|0.70925	2.565000|2.565000	0.86533|0.86533	0.643000|0.643000	0.83706|0.83706	GGT|TGG		PASS	0.299	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	Missense_Mutation	7	128	7	128	---	---	---	---
ZNF572	137209	broad.mit.edu	37	8	125989495	125989495	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:125989495C>G	ENST00000319286.5	+	3	1139	c.985C>G	c.(985-987)Caa>Gaa	p.Q329E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q329E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAGCCTTATCAATGTCCAGA	0.358										HNSCC(60;0.17)																												uc003yrr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(985-987)CAA>GAA		zinc finger protein 572							53.0	56.0	55.0					8																	125989495		2203	4299	6502	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989495C>G	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.985C>G	8.37:g.125989495C>G	ENSP00000319305:p.Gln329Glu	HNSCC(60;0.17)					p.Q329E	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1140	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		329			C2H2-type 8.		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.985C>G	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.919993	0.00498	.	.	ENSG00000180938	ENST00000319286	T	0.35789	1.29	4.85	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.800484	0.10859	N	0.626307	T	0.17066	0.0410	N	0.17594	0.5	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.33189	-0.9878	10	0.02654	T	1	-3.6027	5.5821	0.17254	0.4727:0.4285:0.0:0.0988	.	329	Q7Z3I7	ZN572_HUMAN	E	329	ENSP00000319305:Q329E	ENSP00000319305:Q329E	Q	+	1	0	ZNF572	126058676	0.000000	0.05858	0.067000	0.19924	0.961000	0.63080	-1.029000	0.03585	0.631000	0.30412	0.655000	0.94253	CAA		PASS	0.358	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		4	58	4	58	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150167	133150167	+	Silent	SNP	G	G	T	rs143511163	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:133150167G>T	ENST00000388996.4	-	12	2085	c.1665C>A	c.(1663-1665)ctC>ctA	p.L555L	KCNQ3_ENST00000521134.1_Silent_p.L435L|KCNQ3_ENST00000519445.1_Silent_p.L555L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	555					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.L555L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AAAGCATGTCGAGATGCCCGG	0.458																																						uc003ytj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1663-1665)CTC>CTA		potassium voltage-gated channel KQT-like protein							143.0	131.0	135.0					8																	133150167		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150167G>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1665C>A	8.37:g.133150167G>T						KCNQ3_uc010mdt.2_Silent_p.L555L	p.L555L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1890	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		555					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.1665C>A	CCDS34943.1																																																																																				PASS	0.458	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		6	110	6	110	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139668172	139668172	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:139668172G>T	ENST00000303045.6	-	45	3747	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M	COL22A1_ENST00000435777.1_Missense_Mutation_p.L1081M|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1101	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L1101M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGAGACAGTAGTGAAGAG	0.378										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3301-3303)CTG>ATG		collagen, type XXII, alpha 1							193.0	195.0	194.0					8																	139668172		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139668172G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3301C>A	8.37:g.139668172G>T	ENSP00000303153:p.Leu1101Met	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.L381M	p.L1101M	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		45	3748	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1101			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3301C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371577	0.24771	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94613	-3.47;-3.47	5.28	4.41	0.53225	.	0.000000	0.39146	N	0.001456	D	0.95611	0.8573	L	0.58428	1.81	0.37061	D	0.898069	D;D	0.69078	0.997;0.994	D;P	0.65010	0.931;0.855	D	0.96194	0.9140	10	0.46703	T	0.11	.	11.9372	0.52880	0.0855:0.0:0.9145:0.0	.	1081;1101	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	M	1101;1081;794	ENSP00000303153:L1101M;ENSP00000387655:L1081M	ENSP00000303153:L1101M	L	-	1	2	COL22A1	139737354	0.996000	0.38824	0.888000	0.34837	0.516000	0.34256	2.550000	0.45811	1.365000	0.46057	0.655000	0.94253	CTG		PASS	0.378	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	196	7	196	---	---	---	---
GSDMD	79792	broad.mit.edu	37	8	144644930	144644930	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:144644930G>A	ENST00000526406.1	+	14	2194	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	GSDMD_ENST00000533063.1_Silent_p.P485P|GSDMD_ENST00000262580.4_Silent_p.P437P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	437				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)			p.P437P(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGAGCACCGGCCTGGGTCT	0.697																																						uc010mfe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)CCG>CCA		gasdermin D							33.0	29.0	30.0					8																	144644930		2188	4289	6477	SO:0001819	synonymous_variant	79792							g.chr8:144644930G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1311G>A	8.37:g.144644930G>A						GSDMD_uc003yyf.2_Silent_p.P485P|GSDMD_uc003yyg.2_Silent_p.P437P|GSDMD_uc003yyh.2_Silent_p.P368P	p.P437P	NM_024736	NP_079012	P57764	GSDMD_HUMAN			14	2014	+			437	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.1311G>A	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	G	7.724	0.697726	0.15106	.	.	ENSG00000104518	ENST00000525208	.	.	.	4.9	-9.79	0.00494	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.07195	-1.0785	4	.	.	.	-11.4529	4.7691	0.13146	0.2831:0.5486:0.0769:0.0913	.	.	.	.	Q	130	.	.	R	+	2	0	GSDMD	144716073	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-3.298000	0.00521	-3.754000	0.00111	-2.552000	0.00177	CGG		PASS	0.697	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		3	1	3	1	---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144733436	144733436	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:144733436G>T	ENST00000501748.2	+	1	1483	c.1394G>T	c.(1393-1395)gGg>gTg	p.G465V	ZNF623_ENST00000458270.2_Missense_Mutation_p.G425V|ZNF623_ENST00000526926.1_Missense_Mutation_p.G425V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G465V(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTTATTGTGGGAAAGGCTTT	0.418																																						uc003yzd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)GGG>GTG		zinc finger protein 623 isoform 1							97.0	93.0	94.0					8																	144733436		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733436G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1394G>T	8.37:g.144733436G>T	ENSP00000445979:p.Gly465Val					ZNF623_uc011lkp.1_Missense_Mutation_p.G425V|ZNF623_uc003yzc.2_Missense_Mutation_p.G425V	p.G465V	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1483	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		465			C2H2-type 13.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1394G>T	CCDS34957.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|G|G	14.26|14.26|14.26	2.482154|2.482154|2.482154	0.44147|0.44147|0.44147	.|.|.	.|.|.	ENSG00000183309|ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748|ENST00000328466	.|T;T;T|.	.|0.58358|.	.|0.34;0.34;1.89|.	4.65|4.65|4.65	2.81|2.81|2.81	0.32909|0.32909|0.32909	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.79064|.	.|0.4383|.	M|M|M	0.93678|0.93678|0.93678	3.445|3.445|3.445	0.51233|0.51233|0.51233	D|D|D	0.999915|0.999915|0.999915	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.79784|.	.|0.993|.	.|T|.	.|0.80341|.	.|-0.1423|.	.|9|.	.|0.87932|0.56958	.|D|D	.|0|0.05	.|-16.7133|-16.7133	8.2994|8.2994|8.2994	0.32006|0.32006|0.32006	0.1979:0.0:0.8021:0.0|0.1979:0.0:0.8021:0.0|0.1979:0.0:0.8021:0.0	.|.|.	.|465|.	.|O75123|.	.|ZN623_HUMAN|.	.|V|X	-1|425;425;465;465|425	.|ENSP00000435232:G425V;ENSP00000411139:G425V;ENSP00000445979:G465V|.	.|ENSP00000411139:G425V|ENSP00000330358:G425X	.|G|G	+|+|+	.|2|1	.|0|0	ZNF623|ZNF623|ZNF623	144804579|144804579|144804579	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.989000|0.989000|0.989000	0.46669|0.46669|0.46669	0.509000|0.509000|0.509000	0.34042|0.34042|0.34042	5.532000|5.532000|5.532000	0.67154|0.67154|0.67154	1.073000|1.073000|1.073000	0.40885|0.40885|0.40885	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	.|GGG|GGA		PASS	0.418	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		6	56	6	56	---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144898966	144898966	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:144898966G>T	ENST00000526683.1	-	12	1959	c.1404C>A	c.(1402-1404)aaC>aaA	p.N468K	PUF60_ENST00000349157.6_Missense_Mutation_p.N451K|PUF60_ENST00000456095.2_Missense_Mutation_p.N439K|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.N422K|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000453551.2_Missense_Mutation_p.N425K|SCRIB_ENST00000377533.3_5'Flank|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.N408K	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	468	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N468K(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTCCACCATGTTGCGCAGAA	0.632																																						uc003yzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1402-1404)AAC>AAA		poly-U binding splicing factor 60KDa isoform a							99.0	104.0	102.0					8																	144898966		2120	4208	6328	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144898966G>T	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1404C>A	8.37:g.144898966G>T	ENSP00000434359:p.Asn468Lys					SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.N408K|PUF60_uc003yzt.2_Missense_Mutation_p.N451K|PUF60_uc003yzq.2_Missense_Mutation_p.N425K	p.N468K	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1468	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		468			RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1404C>A	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560850	0.45590	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39	5.27	4.4	0.53042	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	H	0.95187	3.635	0.80722	D	1	D;D	0.63046	0.992;0.986	D;P	0.67725	0.953;0.898	T	0.49051	-0.8979	10	0.72032	D	0.01	.	12.8315	0.57748	0.0795:0.0:0.9205:0.0	.	451;468	Q9UHX1-2;Q9UHX1	.;PUF60_HUMAN	K	468;425;408;439;451;422	ENSP00000434359:N468K;ENSP00000402953:N425K;ENSP00000322016:N408K;ENSP00000395417:N439K;ENSP00000322036:N451K;ENSP00000431960:N422K	ENSP00000322016:N408K	N	-	3	2	PUF60	144970954	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	4.797000	0.62503	1.223000	0.43536	0.448000	0.29417	AAC		PASS	0.632	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		5	32	5	32	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146017419	146017419	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr8:146017419C>A	ENST00000262584.3	-	2	328	c.96G>T	c.(94-96)gtG>gtT	p.V32V	RPL8_ENST00000394920.2_Silent_p.V32V|RPL8_ENST00000527914.1_Silent_p.V32V|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000528957.1_Silent_p.V32V	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.V32V(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CAGCGAAATCCACGGCGCGCA	0.701																																						uc003zeb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)GTG>GTT		ribosomal protein L8							23.0	28.0	26.0					8																	146017419		2193	4283	6476	SO:0001819	synonymous_variant	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146017419C>A	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.96G>T	8.37:g.146017419C>A						RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.V32V|RPL8_uc003zec.2_Silent_p.V32V|RPL8_uc010mgc.2_Silent_p.V32V|RPL8_uc011lll.1_5'Flank	p.V32V	NM_033301	NP_150644	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	2	207	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		32					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	c.96G>T	CCDS6433.1																																																																																				PASS	0.701	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		4	10	4	10	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2033005	2033005	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:2033005C>A	ENST00000382203.1	+	3	488	c.279C>A	c.(277-279)tcC>tcA	p.S93S	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.S93S|SMARCA2_ENST00000382194.1_Silent_p.S93S|SMARCA2_ENST00000349721.2_Silent_p.S93S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	93					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.S93S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATTGTGGATCCATGAAGGGCA	0.483																																						uc003zhc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(277-279)TCC>TCA		SWI/SNF-related matrix-associated							143.0	119.0	127.0					9																	2033005		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2033005C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.279C>A	9.37:g.2033005C>A						SMARCA2_uc003zhd.2_Silent_p.S93S|SMARCA2_uc010mha.2_Silent_p.S84S	p.S93S	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	3	378	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	93					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.279C>A	CCDS34977.1																																																																																				PASS	0.483	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		6	79	6	79	---	---	---	---
UHRF2	115426	broad.mit.edu	37	9	6460735	6460735	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:6460735C>A	ENST00000276893.5	+	4	975	c.807C>A	c.(805-807)acC>acA	p.T269T		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	269	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T269T(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CAGAAATTACCACATTGAAGA	0.348																																						uc003zjy.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(805-807)ACC>ACA		ubiquitin-like with PHD and ring finger domains							113.0	117.0	116.0					9																	6460735		2203	4300	6503	SO:0001819	synonymous_variant	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6460735C>A	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.807C>A	9.37:g.6460735C>A						UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Silent_p.T46T	p.T269T	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	4	1147	+		Acute lymphoblastic leukemia(23;0.158)	269			Interaction with PCNP.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	c.807C>A	CCDS6469.1																																																																																				PASS	0.348	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		7	107	7	107	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6595065	6595065	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:6595065G>T	ENST00000321612.6	-	9	1360	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	404					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.L404M(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATATGCTCCAGCCCATGGGAA	0.393																																						uc003zkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1210-1212)CTG>ATG		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						142.0	151.0	148.0					9																	6595065		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6595065G>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1210C>A	9.37:g.6595065G>T	ENSP00000370737:p.Leu404Met						p.L404M	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	9	1403	-		Acute lymphoblastic leukemia(23;0.161)	404					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1210C>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141613	0.57044	.	.	ENSG00000178445	ENST00000321612	D	0.97279	-4.32	4.67	4.67	0.58626	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	M	0.78456	2.415	0.80722	D	1	D	0.57899	0.981	P	0.62014	0.897	D	0.97722	1.0197	10	0.87932	D	0	-12.9225	11.3226	0.49430	0.1309:0.0:0.8691:0.0	.	404	P23378	GCSP_HUMAN	M	404	ENSP00000370737:L404M	ENSP00000370737:L404M	L	-	1	2	GLDC	6585065	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.883000	0.56168	2.595000	0.87683	0.650000	0.86243	CTG		PASS	0.393	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		7	272	7	272	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)		lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	lung(2)|ovary(1)	3						c.(499-501)AGT>AGC		myeloid/lymphoid or mixed-lineage leukemia							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	p.S167S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	760	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				PASS	0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	28	4	28	---	---	---	---
CAAP1	79886	broad.mit.edu	37	9	26884875	26884875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:26884875C>A	ENST00000333916.5	-	4	686	c.598G>T	c.(598-600)Gga>Tga	p.G200*	CAAP1_ENST00000535437.1_Nonsense_Mutation_p.G55*|CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Intron	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	200					apoptotic process (GO:0006915)			p.G200*(1)									GAGTCCATTCCATTGTCACCT	0.284																																						uc003zqc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(598-600)GGA>TGA		hypothetical protein LOC79886							122.0	135.0	130.0					9																	26884875		2203	4290	6493	SO:0001587	stop_gained	79886							g.chr9:26884875C>A	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.598G>T	9.37:g.26884875C>A	ENSP00000369431:p.Gly200*					C9orf82_uc003zqb.2_Nonsense_Mutation_p.G55*	p.G200*	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	4	610	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	200					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Nonsense_Mutation	SNP	ENST00000333916.5	37	c.598G>T	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	C	37	6.071215	0.97256	.	.	ENSG00000120159	ENST00000333916;ENST00000535437	.	.	.	5.87	3.94	0.45596	.	0.585141	0.19844	N	0.104792	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.3232	10.2089	0.43128	0.1363:0.7929:0.0:0.0708	.	.	.	.	X	200;55	.	ENSP00000369431:G200X	G	-	1	0	C9orf82	26874875	0.967000	0.33354	0.977000	0.42913	0.945000	0.59286	1.818000	0.39012	1.495000	0.48549	0.591000	0.81541	GGA		PASS	0.284	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		9	292	9	292	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630222	32630222	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:32630222A>T	ENST00000242310.4	-	1	5445	c.5356T>A	c.(5356-5358)Ttc>Atc	p.F1786I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1786					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.F1786I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATAGCAGAGAAAGGATTGTCT	0.458																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5356-5358)TTC>ATC		TBP-associated factor RNA polymerase 1-like							263.0	221.0	235.0					9																	32630222		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630222A>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5356T>A	9.37:g.32630222A>T	ENSP00000418379:p.Phe1786Ile						p.F1786I	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5446	-			1786					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5356T>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497134	0.64186	.	.	ENSG00000122728	ENST00000242310	T	0.11277	2.79	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.62723	1.935	0.47009	D	0.999286	D	0.65815	0.995	D	0.77004	0.989	T	0.02333	-1.1175	10	0.30078	T	0.28	.	6.3765	0.21511	1.0:0.0:0.0:0.0	.	1786	Q8IZX4	TAF1L_HUMAN	I	1786	ENSP00000418379:F1786I	ENSP00000418379:F1786I	F	-	1	0	TAF1L	32620222	1.000000	0.71417	0.697000	0.30258	0.261000	0.26267	5.793000	0.69060	0.426000	0.26116	0.164000	0.16699	TTC		PASS	0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			39	61	39	61	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33948493	33948493	+	Silent	SNP	C	C	A	rs367976778		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:33948493C>A	ENST00000379238.1	-	13	1266	c.1149G>T	c.(1147-1149)ccG>ccT	p.P383P	UBAP2_ENST00000539807.1_Silent_p.P138P|UBAP2_ENST00000449054.1_Silent_p.P383P|UBAP2_ENST00000360802.1_Silent_p.P383P|UBAP2_ENST00000379239.4_Silent_p.P116P|UBAP2_ENST00000418786.2_Silent_p.P330P|UBAP2_ENST00000379225.1_Silent_p.P16P					ubiquitin associated protein 2									p.P383P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGCCCAAACTCGGAGCTTTCA	0.488																																						uc003ztq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1147-1149)CCG>CCT		ubiquitin associated protein 2							274.0	260.0	265.0					9																	33948493		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33948493C>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1149G>T	9.37:g.33948493C>A						UBAP2_uc011loc.1_Silent_p.P292P|UBAP2_uc011lod.1_Silent_p.P116P|UBAP2_uc011loe.1_Silent_p.P138P|UBAP2_uc011lof.1_Silent_p.P308P|UBAP2_uc011log.1_Silent_p.P329P|UBAP2_uc003ztr.2_Silent_p.P255P|UBAP2_uc003zts.2_Silent_p.P16P	p.P383P	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	13	1262	-			383						Silent	SNP	ENST00000379238.1	37	c.1149G>T	CCDS6547.1																																																																																				PASS	0.488	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		6	149	6	149	---	---	---	---
RPP25L	138716	broad.mit.edu	37	9	34610925	34610925	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:34610925C>A	ENST00000297613.4	-	2	649	c.369G>T	c.(367-369)cgG>cgT	p.R123R	RPP25L_ENST00000378959.4_Silent_p.R123R|DCTN3_ENST00000479399.1_5'Flank	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	123						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R123R(1)									CCAGGGGGTCCCGGCTGAGCA	0.652																																						uc003zuu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)CGG>CGT		hypothetical protein LOC138716							42.0	44.0	43.0					9																	34610925		2202	4300	6502	SO:0001819	synonymous_variant	138716						nucleic acid binding	g.chr9:34610925C>A	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.369G>T	9.37:g.34610925C>A						C9orf23_uc003zuv.2_Silent_p.R123R	p.R123R	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)	2	650	-	all_epithelial(49;0.0863)		123					D3DRM5	Silent	SNP	ENST00000297613.4	37	c.369G>T	CCDS6559.1																																																																																				PASS	0.652	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		5	23	5	23	---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35736299	35736299	+	IGR	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:35736299G>T	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Nonsense_Mutation_p.E258*|CREB3_ENST00000486056.1_3'UTR|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.E258*(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGCCAGCTGAGCATGGAGG	0.537											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zxv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(772-774)GAG>TAG		cAMP responsive element binding protein 3							167.0	161.0	163.0					9																	35736299		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736299G>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736299G>T			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_uc010mla.2_Nonsense_Mutation_p.E177*	p.E258*	NM_006368	NP_006359	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	8	1225	+	all_epithelial(49;0.167)		282			Lumenal (Potential).		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Nonsense_Mutation	SNP	ENST00000378103.3	37	c.772G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886745	0.91814	.	.	ENSG00000107175	ENST00000353704	.	.	.	5.36	2.35	0.29111	.	0.584363	0.17651	N	0.166683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	1.34	0.02153	0.1673:0.2406:0.3736:0.2186	.	.	.	.	X	258	.	ENSP00000342136:E258X	E	+	1	0	CREB3	35726299	0.316000	0.24580	0.818000	0.32626	0.480000	0.33159	0.517000	0.22832	1.427000	0.47276	-0.140000	0.14226	GAG		PASS	0.537	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		7	107	7	107	---	---	---	---
MSMP	692094	broad.mit.edu	37	9	35754006	35754006	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:35754006G>T	ENST00000436428.2	-	1	260	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_Intron	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	41						cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.Q41K(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CCTTGAGCTTGGAAGTAGCAC	0.562																																						uc003zyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CAA>AAA		PC3-secreted microprotein precursor							239.0	249.0	246.0					9																	35754006		2062	4215	6277	SO:0001583	missense	692094					extracellular region		g.chr9:35754006G>T	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.121C>A	9.37:g.35754006G>T	ENSP00000419194:p.Gln41Lys						p.Q41K	NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN			1	267	-			41						Missense_Mutation	SNP	ENST00000436428.2	37	c.121C>A	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940822	0.52972	.	.	ENSG00000215183	ENST00000436428	T	0.64803	-0.12	5.81	5.81	0.92471	.	0.434689	0.14644	U	0.307002	T	0.61098	0.2320	N	0.22421	0.69	0.41409	D	0.987729	P	0.48089	0.905	P	0.50314	0.637	T	0.58115	-0.7693	10	0.33141	T	0.24	-0.3986	18.2507	0.90002	0.0:0.0:1.0:0.0	.	41	Q1L6U9	MSMP_HUMAN	K	41	ENSP00000419194:Q41K	ENSP00000419194:Q41K	Q	-	1	0	MSMP	35744006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.511000	0.45476	2.733000	0.93635	0.655000	0.94253	CAA		PASS	0.562	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		8	169	8	169	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35808587	35808587	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:35808587C>A	ENST00000342694.2	+	19	3049	c.2794C>A	c.(2794-2796)Cgt>Agt	p.R932S	SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	932	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R932S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGAAATTGCTCGTATGGCCCT	0.542																																						uc003zyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(1)	3						c.(2794-2796)CGT>AGT		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						89.0	81.0	84.0					9																	35808587		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35808587C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2794C>A	9.37:g.35808587C>A	ENSP00000341083:p.Arg932Ser					NPR2_uc010mlb.2_Missense_Mutation_p.R908S|SPAG8_uc003zye.2_Intron	p.R932S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		19	2794	+	all_epithelial(49;0.161)		932			Guanylate cyclase.|Cytoplasmic (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2794C>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196803	0.79015	.	.	ENSG00000159899	ENST00000342694	T	0.80393	-1.37	5.63	5.63	0.86233	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.41500	D	0.000879	T	0.72676	0.3490	N	0.11870	0.19	0.80722	D	1	P;B	0.48407	0.91;0.105	P;B	0.54346	0.749;0.051	T	0.68450	-0.5405	10	0.07030	T	0.85	.	13.253	0.60062	0.1587:0.8412:0.0:0.0	.	932;932	P20594-2;P20594	.;ANPRB_HUMAN	S	932	ENSP00000341083:R932S	ENSP00000341083:R932S	R	+	1	0	NPR2	35798587	0.979000	0.34478	1.000000	0.80357	0.999000	0.98932	1.948000	0.40303	2.636000	0.89361	0.655000	0.94253	CGT		PASS	0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			4	37	4	37	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39086791	39086791	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:39086791G>T	ENST00000297668.6	-	20	3349	c.3276C>A	c.(3274-3276)acC>acA	p.T1092T	CNTNAP3_ENST00000358144.2_Silent_p.T1004T|CNTNAP3_ENST00000377656.2_Silent_p.T1011T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1092	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1092T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAAATCAAAGGTAAATGCAT	0.338																																						uc004abi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3274-3276)ACC>ACA		cell recognition molecule CASPR3 precursor							14.0	15.0	15.0					9																	39086791		2111	4127	6238	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39086791G>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3276C>A	9.37:g.39086791G>T						CNTNAP3_uc004abj.2_Silent_p.T1011T|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.T1092T	p.T1092T	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	20	3515	-			1092			Laminin G-like 4.|Extracellular (Potential).		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.3276C>A	CCDS6616.1																																																																																				PASS	0.338	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		7	90	7	90	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77442742	77442742	+	Missense_Mutation	SNP	G	G	A	rs376702811		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:77442742G>A	ENST00000360774.1	-	7	1030	c.793C>T	c.(793-795)Ctc>Ttc	p.L265F	TRPM6_ENST00000376871.3_Missense_Mutation_p.L265F|TRPM6_ENST00000359047.2_Missense_Mutation_p.L265F|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Missense_Mutation_p.L260F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L265F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L265F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L260F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L265F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	265					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.L265F(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						TTCCTTCTGAGCTTCATTTCA	0.522																																						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.(793-795)CTC>TTC		transient receptor potential cation channel,							162.0	146.0	151.0					9																	77442742		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.chr9:77442742G>A	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.793C>T	9.37:g.77442742G>A	ENSP00000354006:p.Leu265Phe					TRPM6_uc004ajk.1_Missense_Mutation_p.L260F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.L265F|TRPM6_uc010mpd.1_Missense_Mutation_p.L265F|TRPM6_uc010mpe.1_Missense_Mutation_p.L265F|TRPM6_uc004ajn.1_Missense_Mutation_p.L265F	p.L265F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			7	1031	-			265			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.793C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510705	0.85389	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;2.82	5.19	5.19	0.71726	.	0.059630	0.64402	D	0.000002	T	0.54902	0.1887	L	0.58669	1.825	0.58432	D	0.999996	D;D;D;P;D;P	0.89917	1.0;1.0;1.0;0.956;0.995;0.902	D;D;D;D;D;P	0.91635	0.984;0.999;0.999;0.919;0.955;0.499	T	0.56463	-0.7975	10	0.87932	D	0	.	12.4451	0.55647	0.0775:0.0:0.9225:0.0	.	265;265;265;265;265;260	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	F	265;265;265;265;260;260;264;265;265	ENSP00000354006:L265F;ENSP00000407341:L265F;ENSP00000366068:L265F;ENSP00000366067:L265F;ENSP00000396672:L260F;ENSP00000354962:L260F;ENSP00000366060:L265F;ENSP00000351942:L265F	ENSP00000351942:L265F	L	-	1	0	TRPM6	76632562	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.627000	0.67784	2.580000	0.87095	0.591000	0.81541	CTC		PASS	0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		17	42	17	42	---	---	---	---
GCNT1	2650	broad.mit.edu	37	9	79117357	79117357	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:79117357G>T	ENST00000376730.4	+	4	543	c.60G>T	c.(58-60)atG>atT	p.M20I	GCNT1_ENST00000536223.1_Missense_Mutation_p.M20I|GCNT1_ENST00000442371.1_Missense_Mutation_p.M20I|GCNT1_ENST00000444201.2_Missense_Mutation_p.M20I	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	20					cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.M20I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ACTACTTTATGGTTCTTGTTT	0.408																																						uc010mpf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)ATG>ATT		beta-1,3-galactosyl-O-glycosyl-glycoprotein							101.0	105.0	104.0					9																	79117357		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117357G>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.60G>T	9.37:g.79117357G>T	ENSP00000365920:p.Met20Ile					GCNT1_uc010mpg.2_Missense_Mutation_p.M20I|GCNT1_uc010mph.2_Missense_Mutation_p.M20I|GCNT1_uc004akf.3_Missense_Mutation_p.M20I|GCNT1_uc010mpi.2_Missense_Mutation_p.M20I|GCNT1_uc004akh.3_Missense_Mutation_p.M20I	p.M20I	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	401	+			20			Helical; Signal-anchor for type II membrane protein; (Potential).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.60G>T	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	2.577	-0.298372	0.05532	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.73	-1.06	0.10002	.	0.873975	0.10104	N	0.715596	T	0.04272	0.0118	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45614	-0.9249	9	.	.	.	.	1.1914	0.01865	0.1982:0.2141:0.3674:0.2203	.	20	Q02742	GCNT1_HUMAN	I	20	ENSP00000440883:M20I;ENSP00000415454:M20I;ENSP00000390703:M20I;ENSP00000365920:M20I	.	M	+	3	0	GCNT1	78307177	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.148000	0.10219	-0.519000	0.06444	-0.188000	0.12872	ATG		PASS	0.408	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		7	105	7	105	---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80921340	80921340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:80921340G>T	ENST00000376588.3	+	5	576	c.508G>T	c.(508-510)Gga>Tga	p.G170*	PSAT1_ENST00000347159.2_Nonsense_Mutation_p.G170*	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	170					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.G170*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CGATGTCAAGGGAGCAGTACT	0.498																																					Colon(34;187 791 10662 18313 37609)	uc004ala.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(508-510)GGA>TGA		phosphoserine aminotransferase 1 isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						375.0	344.0	354.0					9																	80921340		2203	4300	6503	SO:0001587	stop_gained	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921340G>T	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.508G>T	9.37:g.80921340G>T	ENSP00000365773:p.Gly170*					PSAT1_uc004alb.2_Nonsense_Mutation_p.G170*	p.G170*	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			5	576	+			170					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Nonsense_Mutation	SNP	ENST00000376588.3	37	c.508G>T	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	38	6.678791	0.97755	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.9258	14.3302	0.66550	0.0704:0.0:0.9295:0.0	.	.	.	.	X	170	.	ENSP00000317606:G170X	G	+	1	0	PSAT1	80111160	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.658000	0.83755	2.773000	0.95371	0.655000	0.94253	GGA		PASS	0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		8	212	8	212	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85619503	85619503	+	Splice_Site	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:85619503T>A	ENST00000376447.3	-	9	1374		c.e9-2			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTTATATGCTGTAATATAGA	0.323																																						uc004amo.1																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.e9-1		RAS and EF-hand domain containing							63.0	62.0	62.0					9																	85619503		2203	4296	6499	SO:0001630	splice_region_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85619503T>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1114-2A>T	9.37:g.85619503T>A							p.H372_splice	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			9	1375	-								A6NC29|Q96N04	Splice_Site	SNP	ENST00000376447.3	37	c.1114_splice	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481380	0.44147	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7384	0.77866	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASEF	84809323	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	5.605000	0.67634	2.202000	0.70862	0.379000	0.24179	.		PASS	0.323	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	Intron	6	54	6	54	---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86293468	86293468	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:86293468C>A	ENST00000376395.4	-	5	1281	c.758G>T	c.(757-759)aGg>aTg	p.R253M	UBQLN1_ENST00000257468.7_Missense_Mutation_p.R253M	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	253					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.R253M(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GTCCTGGTTCCTCATCATCTC	0.418																																					Melanoma(186;1284 2073 12755 14558 18426)	uc004amv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)AGG>ATG		ubiquilin 1 isoform 1							352.0	363.0	359.0					9																	86293468		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293468C>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.758G>T	9.37:g.86293468C>A	ENSP00000365576:p.Arg253Met					UBQLN1_uc004amw.2_Missense_Mutation_p.R253M	p.R253M	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN			5	1332	-			253					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.758G>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316272	0.95655	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.81078	1.22;1.22;-1.45	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92929	0.6362	10	0.72032	D	0.01	.	19.8449	0.96704	0.0:1.0:0.0:0.0	.	253;253	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	M	253;253;50	ENSP00000365576:R253M;ENSP00000257468:R253M;ENSP00000434194:R50M	ENSP00000257468:R253M	R	-	2	0	UBQLN1	85483288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.680000	0.91292	0.655000	0.94253	AGG		PASS	0.418	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		12	357	12	357	---	---	---	---
HNRNPK	3190	broad.mit.edu	37	9	86588865	86588865	+	Silent	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:86588865A>C	ENST00000376264.2	-	8	612	c.354T>G	c.(352-354)acT>acG	p.T118T	HNRNPK_ENST00000351839.3_Silent_p.T118T|HNRNPK_ENST00000376263.3_Silent_p.T118T|HNRNPK_ENST00000376281.4_Silent_p.T118T|HNRNPK_ENST00000360384.5_Silent_p.T118T|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	118	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.T118T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGCTGGTTGCAGTGGGTGATG	0.468																																						uc004ang.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(352-354)ACT>ACG		heterogeneous nuclear ribonucleoprotein K							69.0	64.0	66.0					9																	86588865		2203	4300	6503	SO:0001819	synonymous_variant	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86588865A>C		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.354T>G	9.37:g.86588865A>C						HNRNPK_uc011lsw.1_5'UTR|HNRNPK_uc004and.3_5'UTR|HNRNPK_uc004ank.3_Silent_p.T118T|HNRNPK_uc004anf.3_Silent_p.T118T|HNRNPK_uc004anh.3_Intron|HNRNPK_uc011lsx.1_Intron|HNRNPK_uc004ani.3_Silent_p.T118T|HNRNPK_uc004anj.3_Silent_p.T118T|HNRNPK_uc004ann.3_Intron|HNRNPK_uc004anl.3_Silent_p.T118T|HNRNPK_uc004anm.3_Silent_p.T118T	p.T118T	NM_031262	NP_112552	P61978	HNRPK_HUMAN			8	578	-			118			5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	ENST00000376264.2	37	c.354T>G	CCDS6667.1																																																																																				PASS	0.468	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			12	35	12	35	---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96259804	96259804	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:96259804G>T	ENST00000277165.6	+	4	1050	c.856G>T	c.(856-858)Gtt>Ttt	p.V286F	FAM120A_ENST00000333936.5_Missense_Mutation_p.V286F|FAM120A_ENST00000375389.3_Missense_Mutation_p.V286F|FAM120A_ENST00000340893.4_Missense_Mutation_p.V286F	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	286						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V286F(1)|p.V286I(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATCAAAGCCGTTGCTGACTA	0.463																																						uc004atw.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(856-858)GTT>TTT		oxidative stress-associated Src activator							153.0	129.0	137.0					9																	96259804		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96259804G>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.856G>T	9.37:g.96259804G>T	ENSP00000277165:p.Val286Phe					FAM120A_uc004atv.2_Missense_Mutation_p.V286F|FAM120A_uc004atx.2_Missense_Mutation_p.V68F|FAM120A_uc004aty.2_Missense_Mutation_p.V68F	p.V286F	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			4	881	+			286					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.856G>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039450	0.93630	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.84	4.84	0.62591	.	0.000000	0.56097	D	0.000023	T	0.71821	0.3385	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.998;0.999;1.0	T	0.75314	-0.3361	10	0.87932	D	0	-12.1742	18.1399	0.89636	0.0:0.0:1.0:0.0	.	286;286;286;286	Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;F120A_HUMAN;.	F	286	ENSP00000364538:V286F;ENSP00000277165:V286F;ENSP00000334918:V286F;ENSP00000344698:V286F	ENSP00000277165:V286F	V	+	1	0	FAM120A	95299625	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	9.506000	0.97992	2.509000	0.84616	0.563000	0.77884	GTT		PASS	0.463	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		7	43	7	43	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104309491	104309491	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:104309491C>A	ENST00000389120.3	+	8	1057	c.967C>A	c.(967-969)Cgg>Agg	p.R323R	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	323					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R323R(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TATCAATGCTCGGAAGGTAAA	0.433																																						uc004bbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(967-969)CGG>AGG		ring finger protein 20							135.0	125.0	128.0					9																	104309491		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104309491C>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.967C>A	9.37:g.104309491C>A							p.R323R	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	8	1057	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	323			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.967C>A	CCDS35084.1																																																																																				PASS	0.433	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	104	5	104	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106891965	106891965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:106891965G>T	ENST00000286398.7	+	21	3118	c.2830G>T	c.(2830-2832)Gag>Tag	p.E944*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.E944*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E944*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E944*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	944					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E944*(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GATTAATGCAGAGAGACACCT	0.368																																						uc004bbv.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2830-2832)GAG>TAG		structural maintenance of chromosomes 2							133.0	145.0	141.0					9																	106891965		2203	4300	6503	SO:0001587	stop_gained	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106891965G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2830G>T	9.37:g.106891965G>T	ENSP00000286398:p.Glu944*					SMC2_uc004bbw.2_Nonsense_Mutation_p.E944*|SMC2_uc011lvl.1_Nonsense_Mutation_p.E944*|SMC2_uc004bbx.2_Nonsense_Mutation_p.E944*|SMC2_uc004bby.2_RNA	p.E944*	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			21	3118	+			944					Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	37	c.2830G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	45	11.495382	0.99568	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	5.99	5.99	0.97316	.	0.047860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.6592	19.0558	0.93064	0.0:0.0:1.0:0.0	.	.	.	.	X	944	.	ENSP00000286398:E944X	E	+	1	0	SMC2	105931786	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.714000	0.98744	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.368	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			9	175	9	175	---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114520464	114520464	+	Missense_Mutation	SNP	G	G	A	rs377178994		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:114520464G>A	ENST00000318737.4	-	5	544	c.416C>T	c.(415-417)tCt>tTt	p.S139F	C9orf84_ENST00000394779.3_Missense_Mutation_p.S100F|C9orf84_ENST00000374287.3_Missense_Mutation_p.S139F|C9orf84_ENST00000374283.5_Missense_Mutation_p.S203F|C9orf84_ENST00000394777.4_Missense_Mutation_p.S100F	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	139								p.S139F(1)|p.S100F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTTGAAGAGAGAAACATTC	0.264																																						uc004bfr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(415-417)TCT>TTT		hypothetical protein LOC158401 isoform 1							26.0	28.0	27.0					9																	114520464		2189	4268	6457	SO:0001583	missense	158401							g.chr9:114520464G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.416C>T	9.37:g.114520464G>A	ENSP00000322108:p.Ser139Phe					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.S203F|C9orf84_uc004bfq.2_Missense_Mutation_p.S100F|C9orf84_uc010mug.2_Missense_Mutation_p.S85F	p.S139F	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			5	551	-			139					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.416C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784943	0.31593	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.1	4.19	0.49359	.	0.299155	0.24388	N	0.038953	T	0.78842	0.4347	L	0.32530	0.975	0.24533	N	0.994106	D;D;D;D	0.76494	0.99;0.999;0.993;0.996	D;D;D;D	0.66351	0.912;0.943;0.911;0.939	T	0.68861	-0.5297	10	0.72032	D	0.01	-3.8648	8.8296	0.35076	0.1016:0.0:0.8983:0.0	.	100;203;139;100	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	F	100;100;139;139;203	ENSP00000378259:S100F;ENSP00000378257:S100F;ENSP00000363405:S139F;ENSP00000322108:S139F;ENSP00000363401:S203F	ENSP00000322108:S139F	S	-	2	0	C9orf84	113560285	0.935000	0.31712	0.301000	0.25044	0.180000	0.23129	1.532000	0.36029	2.523000	0.85059	0.591000	0.81541	TCT		PASS	0.264	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		5	31	5	31	---	---	---	---
SLC31A1	1317	broad.mit.edu	37	9	116022625	116022625	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:116022625C>A	ENST00000374212.4	+	5	597	c.445C>A	c.(445-447)Ctc>Atc	p.L149I	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	149					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)	p.L149I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGCTACTTCCTCATGCTCAT	0.512																																					Ovarian(135;1049 1799 4519 17564 28677)	uc004bgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CTC>ATC		solute carrier family 31 (copper transporters),							186.0	150.0	162.0					9																	116022625		2203	4300	6503	SO:0001583	missense	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116022625C>A	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.445C>A	9.37:g.116022625C>A	ENSP00000363329:p.Leu149Ile					FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Intron	p.L149I	NM_001859	NP_001850	O15431	COPT1_HUMAN			5	631	+			149			Helical; (Potential).		A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	c.445C>A	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882854	0.91740	.	.	ENSG00000136868	ENST00000374212	D	0.83250	-1.7	5.76	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86236	0.1640	10	0.30078	T	0.28	-15.0722	15.3111	0.74031	0.1409:0.8591:0.0:0.0	.	149	O15431	COPT1_HUMAN	I	149	ENSP00000363329:L149I	ENSP00000363329:L149I	L	+	1	0	SLC31A1	115062446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.506000	0.81665	1.418000	0.47098	0.655000	0.94253	CTC		PASS	0.512	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		8	74	8	74	---	---	---	---
OR1J4	26219	broad.mit.edu	37	9	125281654	125281654	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:125281654C>A	ENST00000340750.1	+	1	235	c.235C>A	c.(235-237)Cca>Aca	p.P79T		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79T(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTCACTGTCCCAAAGATGTT	0.438																																						uc011lyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CCA>ACA		olfactory receptor, family 1, subfamily J,							263.0	231.0	242.0					9																	125281654		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281654C>A	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.235C>A	9.37:g.125281654C>A	ENSP00000343521:p.Pro79Thr						p.P79T	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	235	+			79			Helical; Name=2; (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.235C>A	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865339	0.51588	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.01854	4.6	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33290	U	0.005079	T	0.22898	0.0553	H	0.98446	4.235	0.54753	D	0.999981	D	0.67145	0.996	D	0.65010	0.931	T	0.41928	-0.9481	10	0.27082	T	0.32	.	18.4898	0.90843	0.0:1.0:0.0:0.0	.	79	Q8NGS1	OR1J4_HUMAN	T	245;79	ENSP00000343521:P79T	ENSP00000407987:P245T	P	+	1	0	OR1J2;OR1J4	124321475	1.000000	0.71417	0.280000	0.24747	0.067000	0.16453	5.830000	0.69324	2.902000	0.99343	0.650000	0.86243	CCA		PASS	0.438	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			7	126	7	126	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	127999307	127999307	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:127999307C>A	ENST00000324460.6	-	8	1732	c.1529G>T	c.(1528-1530)cGa>cTa	p.R510L		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	510					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.R510L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGCTGTCACTCGAAGAATACC	0.443										Prostate(1;0.17)																												uc004bpn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1528-1530)CGA>CTA		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						130.0	130.0	130.0					9																	127999307		2203	4298	6501	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127999307C>A		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1529G>T	9.37:g.127999307C>A	ENSP00000324173:p.Arg510Leu	Prostate(1;0.17)					p.R510L	NM_005347	NP_005338	P11021	GRP78_HUMAN			8	1785	-			510					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1529G>T	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015377	0.75161	.	.	ENSG00000044574	ENST00000324460	T	0.04234	3.67	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	L	0.45137	1.4	0.80722	D	1	P	0.39157	0.662	B	0.40602	0.334	T	0.07849	-1.0751	10	0.87932	D	0	-26.1253	17.816	0.88634	0.0:1.0:0.0:0.0	.	510	P11021	GRP78_HUMAN	L	510	ENSP00000324173:R510L	ENSP00000324173:R510L	R	-	2	0	HSPA5	127039128	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.079000	0.71291	2.449000	0.82847	0.585000	0.79938	CGA		PASS	0.443	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			6	122	6	122	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	128001526	128001526	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:128001526G>A	ENST00000324460.6	-	5	893	c.690C>T	c.(688-690)ttC>ttT	p.F230F	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	230					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.F230F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GAGACACATCGAAGGTTCCGC	0.488										Prostate(1;0.17)																												uc004bpn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(688-690)TTC>TTT		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						58.0	62.0	61.0					9																	128001526		2203	4300	6503	SO:0001819	synonymous_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001526G>A		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.690C>T	9.37:g.128001526G>A		Prostate(1;0.17)					p.F230F	NM_005347	NP_005338	P11021	GRP78_HUMAN			5	946	-			230					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.690C>T	CCDS6863.1																																																																																				PASS	0.488	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			10	27	10	27	---	---	---	---
DOLPP1	57171	broad.mit.edu	37	9	131846978	131846978	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:131846978G>T	ENST00000372546.4	+	2	140	c.108G>T	c.(106-108)ctG>ctT	p.L36L	DOLPP1_ENST00000406974.3_Silent_p.L36L|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	36					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)	p.L36L(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TTGCCTACCTGAGCCTCAGCC	0.567																																						uc004bxc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(106-108)CTG>CTT		dolichyl pyrophosphate phosphatase 1 isoform a							473.0	425.0	442.0					9																	131846978		2203	4300	6503	SO:0001819	synonymous_variant	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131846978G>T	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.108G>T	9.37:g.131846978G>T						DOLPP1_uc004bxd.2_Silent_p.L36L|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	p.L36L	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN			2	136	+			36			Helical; (Potential).		A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Silent	SNP	ENST00000372546.4	37	c.108G>T	CCDS6918.1																																																																																				PASS	0.567	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		10	264	10	264	---	---	---	---
TOR1B	27348	broad.mit.edu	37	9	132566464	132566464	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:132566464C>A	ENST00000259339.2	+	2	372	c.312C>A	c.(310-312)acC>acA	p.T104T	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	104					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T104T(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				AACCACTGACCCTTTCCTTAC	0.468																																						uc004byk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)ACC>ACA		torsin family 1, member B (torsin B) precursor							105.0	98.0	101.0					9																	132566464		2203	4300	6503	SO:0001819	synonymous_variant	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132566464C>A	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.312C>A	9.37:g.132566464C>A							p.T104T	NM_014506	NP_055321	O14657	TOR1B_HUMAN			2	372	+		Ovarian(14;0.0586)	104						Silent	SNP	ENST00000259339.2	37	c.312C>A	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433358	0.25813	.	.	ENSG00000136816	ENST00000427860	.	.	.	5.1	0.167	0.15006	.	.	.	.	.	T	0.51805	0.1696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39881	-0.9592	4	.	.	.	-7.743	6.2654	0.20924	0.0:0.4675:0.2763:0.2562	.	.	.	.	H	86	.	.	P	+	2	0	TOR1B	131606285	0.229000	0.23729	0.996000	0.52242	0.931000	0.56810	-0.479000	0.06567	0.113000	0.18004	0.561000	0.74099	CCC		PASS	0.468	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		7	82	7	82	---	---	---	---
TOR1A	1861	broad.mit.edu	37	9	132576405	132576405	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:132576405C>A	ENST00000351698.4	-	5	893	c.845G>T	c.(844-846)cGa>cTa	p.R282L		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	282	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.R282L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CATTTCCACTCGGATACACAT	0.453																																						uc004byl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(844-846)CGA>CTA		torsin A precursor							189.0	180.0	183.0					9																	132576405		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132576405C>A	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.845G>T	9.37:g.132576405C>A	ENSP00000345719:p.Arg282Leu					TOR1A_uc004bym.2_RNA	p.R282L	NM_000113	NP_000104	O14656	TOR1A_HUMAN			5	922	-		Ovarian(14;0.00556)	282					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.845G>T	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687175	0.29962	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.62498	0.02	5.27	4.36	0.52297	.	0.133773	0.64402	D	0.000004	T	0.49847	0.1581	L	0.33137	0.985	0.41327	D	0.987212	B	0.10296	0.003	B	0.11329	0.006	T	0.44667	-0.9313	10	0.28530	T	0.3	-2.4564	13.2431	0.60008	0.0:0.9216:0.0:0.0784	.	282	O14656	TOR1A_HUMAN	L	251;282	ENSP00000345719:R282L	ENSP00000345719:R282L	R	-	2	0	TOR1A	131616226	0.966000	0.33281	0.086000	0.20670	0.457000	0.32468	4.654000	0.61469	2.439000	0.82584	0.561000	0.74099	CGA		PASS	0.453	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		6	122	6	122	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135145048	135145048	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:135145048C>A	ENST00000224140.5	-	25	7423	c.7241G>T	c.(7240-7242)cGa>cTa	p.R2414L	SETX_ENST00000393220.1_Missense_Mutation_p.R2381L|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.R2414L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2414					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R2414L(2)|p.R2414Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTACTTGGCTCGTGTGATGGT	0.438																																						uc004cbk.2																			3	Substitution - Missense(3)		lung(2)|kidney(1)	ovary(2)|skin(1)	3						c.(7240-7242)CGA>CTA		senataxin							335.0	311.0	319.0					9																	135145048		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135145048C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7241G>T	9.37:g.135145048C>A	ENSP00000224140:p.Arg2414Leu					SETX_uc004cbj.2_Missense_Mutation_p.R2033L|SETX_uc010mzt.2_Missense_Mutation_p.R2000L	p.R2414L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	25	7424	-		Myeloproliferative disorder(178;0.204)	2414					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7241G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886450	0.91814	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-1.89	5.31	5.31	0.75309	.	0.072279	0.53938	D	0.000058	D	0.99648	0.9870	H	0.98721	4.31	0.49483	D	0.999799	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.98;0.993	D	0.97427	1.0013	10	0.87932	D	0	.	18.3812	0.90452	0.0:1.0:0.0:0.0	.	2381;2414;2414	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	2414;656;2414;2381	ENSP00000224140:R2414L;ENSP00000409143:R656L;ENSP00000361242:R2414L;ENSP00000376913:R2381L	ENSP00000224140:R2414L	R	-	2	0	SETX	134134869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.990000	0.70595	2.652000	0.90054	0.555000	0.69702	CGA		PASS	0.438	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	211	7	211	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135218091	135218091	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:135218091G>T	ENST00000224140.5	-	5	666	c.484C>A	c.(484-486)Cat>Aat	p.H162N	SETX_ENST00000393220.1_Missense_Mutation_p.H162N|SETX_ENST00000372169.2_Missense_Mutation_p.H162N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	162					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.H162N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCATTGGGATGGACTAAAAAC	0.393																																						uc004cbk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(484-486)CAT>AAT		senataxin							201.0	208.0	206.0					9																	135218091		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135218091G>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.484C>A	9.37:g.135218091G>T	ENSP00000224140:p.His162Asn						p.H162N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	5	667	-		Myeloproliferative disorder(178;0.204)	162					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.484C>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286116	0.80803	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.83250	-1.7;-1.7;-1.7	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	L	0.34521	1.04	0.38558	D	0.94963	D	0.76494	0.999	D	0.83275	0.996	D	0.89474	0.3745	10	0.87932	D	0	.	18.6094	0.91279	0.0:0.0:1.0:0.0	.	162	Q7Z333	SETX_HUMAN	N	162	ENSP00000224140:H162N;ENSP00000361242:H162N;ENSP00000376913:H162N	ENSP00000224140:H162N	H	-	1	0	SETX	134207912	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.885000	0.75606	2.636000	0.89361	0.557000	0.71058	CAT		PASS	0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		9	207	9	207	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135796754	135796754	+	Silent	SNP	G	G	T	rs118203434|rs118203433		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:135796754G>T	ENST00000298552.3	-	8	954	c.733C>A	c.(733-735)Cga>Aga	p.R245R	TSC1_ENST00000403810.1_Silent_p.R245R|TSC1_ENST00000440111.2_Silent_p.R245R|TSC1_ENST00000475903.1_5'Flank|TSC1_ENST00000545250.1_Silent_p.R194R	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	245					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R245R(1)|p.R245*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTATACCTTCGAGGGTCCAGT	0.393			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			3	Substitution - Nonsense(1)|Unknown(1)|Substitution - coding silent(1)		upper_aerodigestive_tract(1)|lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	GRCh37	CM981932	TSC1	M	rs118203434	c.(733-735)CGA>AGA		tuberous sclerosis 1 protein isoform 1							87.0	83.0	84.0					9																	135796754		2203	4300	6503	SO:0001819	synonymous_variant	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135796754G>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.733C>A	9.37:g.135796754G>T						TSC1_uc004ccb.3_Silent_p.R245R|TSC1_uc011mcq.1_Silent_p.R194R|TSC1_uc011mcr.1_Silent_p.R124R|TSC1_uc011mcs.1_Silent_p.R124R|TSC1_uc004ccc.1_Silent_p.R245R|TSC1_uc004ccd.2_Silent_p.R245R|TSC1_uc004cce.1_Silent_p.R245R	p.R245R	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	8	967	-			245					B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	c.733C>A	CCDS6956.1																																																																																				PASS	0.393	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			5	55	5	55	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138714106	138714106	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr9:138714106G>T	ENST00000389532.4	-	11	2465	c.2401C>A	c.(2401-2403)Cag>Aag	p.Q801K	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q812K|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q523K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	801					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.Q801K(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGCTCATCTGAGAGGCTGTG	0.577																																						uc004cgr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2401-2403)CAG>AAG		calmodulin regulated spectrin-associated protein							104.0	115.0	111.0					9																	138714106		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714106G>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2401C>A	9.37:g.138714106G>T	ENSP00000374183:p.Gln801Lys					CAMSAP1_uc004cgq.3_Missense_Mutation_p.Q691K|CAMSAP1_uc010nbg.2_Missense_Mutation_p.Q523K	p.Q801K	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2401	-			801					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.2401C>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091019	0.55968	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.69040	-0.37;-0.37;-0.37	5.14	5.14	0.70334	.	0.107192	0.64402	D	0.000004	D	0.82715	0.5097	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.78314	0.991;0.899	D	0.84934	0.0861	10	0.87932	D	0	-25.8574	18.9649	0.92692	0.0:0.0:1.0:0.0	.	801;812	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	K	801;523;812	ENSP00000374183:Q801K;ENSP00000312463:Q523K;ENSP00000386420:Q812K	ENSP00000312463:Q523K	Q	-	1	0	CAMSAP1	137853927	1.000000	0.71417	0.269000	0.24586	0.032000	0.12392	9.277000	0.95755	2.553000	0.86117	0.655000	0.94253	CAG		PASS	0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	105	7	105	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5495514	5495514	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:5495514C>A	ENST00000355029.4	+	8	901	c.759C>A	c.(757-759)ctC>ctA	p.L253L	NET1_ENST00000542715.1_Silent_p.L72L|NET1_ENST00000380359.3_Silent_p.L199L	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L199L(1)|p.L253L(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GTCACATTCTCGTGAGCTGGG	0.413																																						uc001iia.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(757-759)CTC>CTA		neuroepithelial cell transforming gene 1 isoform							196.0	172.0	180.0					10																	5495514		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5495514C>A	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.759C>A	10.37:g.5495514C>A						NET1_uc010qar.1_Silent_p.L72L|NET1_uc001iib.2_Silent_p.L199L|NET1_uc010qas.1_Silent_p.L72L	p.L253L	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			8	897	+			253			DH.		Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.759C>A	CCDS41483.1																																																																																				PASS	0.413	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		5	68	5	68	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12159705	12159705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:12159705G>T	ENST00000263035.4	+	14	2415	c.2353G>T	c.(2353-2355)Gga>Tga	p.G785*	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	785					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G785*(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AATGGCACCAGGAACAACATT	0.428																																						uc001ild.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2353-2355)GGA>TGA		dehydrogenase E1 and transketolase domain							195.0	168.0	177.0					10																	12159705		2203	4300	6503	SO:0001587	stop_gained	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12159705G>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2353G>T	10.37:g.12159705G>T	ENSP00000263035:p.Gly785*						p.G785*	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2452	+		Renal(717;0.228)	785					Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	ENST00000263035.4	37	c.2353G>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	39	7.434341	0.98282	.	.	ENSG00000181192	ENST00000263035	.	.	.	5.42	4.5	0.54988	.	0.102981	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.1029	12.6878	0.56958	0.1352:0.0:0.8648:0.0	.	.	.	.	X	785	.	ENSP00000263035:G785X	G	+	1	0	DHTKD1	12199711	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.158000	0.64917	2.520000	0.84964	0.655000	0.94253	GGA		PASS	0.428	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		7	126	7	126	---	---	---	---
CAMK1D	57118	broad.mit.edu	37	10	12856243	12856243	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:12856243G>T	ENST00000378847.3	+	7	1028	c.691G>T	c.(691-693)Gag>Tag	p.E231*	CAMK1D_ENST00000378845.1_Nonsense_Mutation_p.E231*	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.E231*(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAAGCTCTTTGAGCAGATCCT	0.512																																						uc001ilo.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|stomach(1)	2						c.(691-693)GAG>TAG		calcium/calmodulin-dependent protein kinase ID							107.0	95.0	99.0					10																	12856243		2203	4300	6503	SO:0001587	stop_gained	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12856243G>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.691G>T	10.37:g.12856243G>T	ENSP00000368124:p.Glu231*					CAMK1D_uc001iln.2_Nonsense_Mutation_p.E231*	p.E231*	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	7	926	+			231			Protein kinase.		B0YIY0|Q9HD31	Nonsense_Mutation	SNP	ENST00000378847.3	37	c.691G>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	37	6.296745	0.97453	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-31.2544	16.7965	0.85603	0.0:0.0:1.0:0.0	.	.	.	.	X	231	.	ENSP00000368122:E231X	E	+	1	0	CAMK1D	12896249	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.517000	0.98020	2.556000	0.86216	0.555000	0.69702	GAG		PASS	0.512	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		6	64	6	64	---	---	---	---
SEPHS1	22929	broad.mit.edu	37	10	13361282	13361282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:13361282C>A	ENST00000327347.5	-	9	1414	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E276*|SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E280*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	347					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.E347*(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGGTGGCCTTCACCATATTTG	0.507																																						uc001imk.2																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1039-1041)GAA>TAA		selenophosphate synthetase 1							297.0	306.0	303.0					10																	13361282		2203	4298	6501	SO:0001587	stop_gained	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13361282C>A	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.1039G>T	10.37:g.13361282C>A	ENSP00000367893:p.Glu347*					SEPHS1_uc001imh.2_Nonsense_Mutation_p.E271*|SEPHS1_uc010qbs.1_Nonsense_Mutation_p.E299*|SEPHS1_uc001imi.2_Nonsense_Mutation_p.E345*|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Nonsense_Mutation_p.E280*	p.E347*	NM_012247	NP_036379	P49903	SPS1_HUMAN			9	1398	-			347					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Nonsense_Mutation	SNP	ENST00000327347.5	37	c.1039G>T	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287048	0.98189	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000537130	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.6086	19.197	0.93693	0.0:1.0:0.0:0.0	.	.	.	.	X	347;276;276;280	.	ENSP00000367887:E276X	E	-	1	0	SEPHS1	13401288	1.000000	0.71417	0.968000	0.41197	0.973000	0.67179	7.776000	0.85560	2.605000	0.88082	0.655000	0.94253	GAA		PASS	0.507	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		9	265	9	265	---	---	---	---
OLAH	55301	broad.mit.edu	37	10	15107628	15107628	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:15107628G>A	ENST00000378228.3	+	6	702	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	OLAH_ENST00000378217.3_Missense_Mutation_p.E203K|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	150					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)	p.E203K(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ATTGTCAGAAGAACAAATAAG	0.413																																						uc001inu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GAA>AAA		oleoyl-ACP hydrolase isoform 2							77.0	71.0	73.0					10																	15107628		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15107628G>A	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.448G>A	10.37:g.15107628G>A	ENSP00000367473:p.Glu150Lys					ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.E203K	p.E150K	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			6	702	+			150					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.448G>A	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.566229	0.86439	.	.	ENSG00000152463	ENST00000429028;ENST00000378228;ENST00000378217	.	.	.	4.98	4.98	0.66077	Thioesterase (1);	0.143160	0.64402	D	0.000008	T	0.80465	0.4628	M	0.85630	2.765	0.47245	D	0.999365	D;D	0.89917	0.985;1.0	P;D	0.77004	0.803;0.989	T	0.82084	-0.0632	9	0.46703	T	0.11	-18.7566	15.3391	0.74282	0.0:0.0:1.0:0.0	.	150;203	Q9NV23;Q9NV23-2	SAST_HUMAN;.	K	150;150;203	.	ENSP00000367462:E203K	E	+	1	0	OLAH	15147634	0.998000	0.40836	0.165000	0.22776	0.032000	0.12392	2.591000	0.46163	2.445000	0.82738	0.557000	0.71058	GAA		PASS	0.413	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		8	55	8	55	---	---	---	---
OLAH	55301	broad.mit.edu	37	10	15115133	15115133	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:15115133G>C	ENST00000378228.3	+	8	957	c.703G>C	c.(703-705)Ggg>Cgg	p.G235R	OLAH_ENST00000378217.3_Missense_Mutation_p.G288R|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	235					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)	p.G288R(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CCAGCTTCCAGGGGGTCACTT	0.343																																						uc001inu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)GGG>CGG		oleoyl-ACP hydrolase isoform 2							83.0	87.0	86.0					10																	15115133		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15115133G>C	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.703G>C	10.37:g.15115133G>C	ENSP00000367473:p.Gly235Arg					ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.G288R	p.G235R	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			8	957	+			235					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.703G>C	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	16.47	3.132404	0.56828	.	.	ENSG00000152463	ENST00000378228;ENST00000378217	.	.	.	5.35	5.35	0.76521	Thioesterase (1);	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90439	0.4430	9	0.87932	D	0	-24.5814	16.3921	0.83543	0.0:0.0:1.0:0.0	.	235;288	Q9NV23;Q9NV23-2	SAST_HUMAN;.	R	235;288	.	ENSP00000367462:G288R	G	+	1	0	OLAH	15155139	1.000000	0.71417	0.969000	0.41365	0.130000	0.20726	5.474000	0.66781	2.779000	0.95612	0.637000	0.83480	GGG		PASS	0.343	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		11	85	11	85	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16955880	16955880	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:16955880C>A	ENST00000377833.4	-	48	7528	c.7463G>T	c.(7462-7464)aGg>aTg	p.R2488M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2488	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R2488M(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATCCGCCTTCCCTCCGG	0.522																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7462-7464)AGG>ATG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						146.0	131.0	136.0					10																	16955880		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955880C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7463G>T	10.37:g.16955880C>A	ENSP00000367064:p.Arg2488Met						p.R2488M	NM_001081	NP_001072	O60494	CUBN_HUMAN			48	7515	-			2488			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7463G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532977	0.45073	.	.	ENSG00000107611	ENST00000377833	T	0.28454	1.61	5.42	3.57	0.40892	CUB (5);	0.000000	0.51477	D	0.000098	T	0.47021	0.1423	L	0.60845	1.875	0.80722	D	1	D	0.65815	0.995	P	0.62885	0.908	T	0.41052	-0.9530	10	0.56958	D	0.05	.	12.2593	0.54640	0.0:0.8613:0.0:0.1387	.	2488	O60494	CUBN_HUMAN	M	2488	ENSP00000367064:R2488M	ENSP00000367064:R2488M	R	-	2	0	CUBN	16995886	0.828000	0.29307	0.134000	0.22075	0.025000	0.11179	3.561000	0.53770	0.675000	0.31264	0.591000	0.81541	AGG		PASS	0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	72	20	72	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	22002776	22002776	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:22002776C>T	ENST00000307729.7	+	14	1953	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	MLLT10_ENST00000377059.3_Missense_Mutation_p.S592F|MLLT10_ENST00000377072.3_Missense_Mutation_p.S608F|MLLT10_ENST00000446906.2_Missense_Mutation_p.S592F			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	592	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S592F(1)|p.S608F(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACTCCTGTCTCCAGCTCTCAC	0.448			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1822-1824)TCC>TTC		myeloid/lymphoid or mixed-lineage leukemia							127.0	120.0	123.0					10																	22002776		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22002776C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1775C>T	10.37:g.22002776C>T	ENSP00000307411:p.Ser592Phe					MLLT10_uc001iqt.2_Missense_Mutation_p.S592F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S592F|MLLT10_uc001ira.2_Missense_Mutation_p.S49F|MLLT10_uc001irb.2_RNA	p.S608F	NM_004641	NP_004632	P55197	AF10_HUMAN			15	2171	+			608			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1823C>T	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.795328|4.795328	0.90453|0.90453	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000420525|ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.|T;T;T;T	.|0.12984	.|2.63;2.63;2.63;2.63	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.262244	.|0.38897	.|N	.|0.001535	T|T	0.39809|0.39809	0.1092|0.1092	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.995;0.998	.|D;D;D;D	.|0.83275	.|0.996;0.991;0.986;0.993	T|T	0.07290|0.07290	-1.0780|-1.0780	5|10	.|0.87932	.|D	.|0	.|.	20.0235|20.0235	0.97511|0.97511	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|287;592;592;608	.|Q5HYC6;E9PBP4;Q5VX90;P55197	.|.;.;.;AF10_HUMAN	S|F	155|608;592;592;427;592;251;250	.|ENSP00000366272:S608F;ENSP00000401406:S592F;ENSP00000307411:S592F;ENSP00000366258:S592F	.|ENSP00000307411:S592F	P|S	+|+	1|2	0|0	MLLT10|MLLT10	22042782|22042782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.996000|3.996000	0.57009|0.57009	2.727000|2.727000	0.93392|0.93392	0.563000|0.563000	0.77884|0.77884	CCA|TCC		PASS	0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			16	78	16	78	---	---	---	---
BMI1	648	broad.mit.edu	37	10	22615393	22615393	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:22615393G>T	ENST00000376663.3	+	2	520	c.15G>T	c.(13-15)acG>acT	p.T5T	COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3-BMI1_ENST00000602390.1_Silent_p.T148T	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	5					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.T5T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATCGAACAACGAGAATCAAGA	0.388																																						uc001irh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)ACG>ACT		BMI1 polycomb ring finger oncogene							209.0	185.0	193.0					10																	22615393		2203	4300	6503	SO:0001819	synonymous_variant	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22615393G>T	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.15G>T	10.37:g.22615393G>T						BMI1_uc009xkg.2_Silent_p.T148T	p.T5T	NM_005180	NP_005171	P35226	BMI1_HUMAN			2	654	+			5					Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	37	c.15G>T	CCDS7138.1																																																																																				PASS	0.388	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		5	63	5	63	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316780	30316780	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:30316780C>A	ENST00000375377.1	-	3	2398	c.2297G>T	c.(2296-2298)aGg>aTg	p.R766M		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	766					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.R766M(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAAGGAAGTCCTTGAGAACGC	0.607																																						uc001iux.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2296-2298)AGG>ATG		hypothetical protein LOC57608							55.0	60.0	58.0					10																	30316780		2112	4238	6350	SO:0001583	missense	57608							g.chr10:30316780C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2297G>T	10.37:g.30316780C>A	ENSP00000364526:p.Arg766Met					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R628M|KIAA1462_uc009xle.1_Missense_Mutation_p.R766M	p.R766M	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2356	-			766					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2297G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727069	0.48833	.	.	ENSG00000165757	ENST00000375377	T	0.18657	2.2	5.75	3.89	0.44902	.	0.286474	0.40144	N	0.001180	T	0.39989	0.1099	L	0.58101	1.795	0.53005	D	0.999966	D	0.89917	1.0	D	0.69479	0.964	T	0.30090	-0.9990	10	0.72032	D	0.01	-24.3184	12.7864	0.57507	0.0:0.8651:0.0:0.1349	.	766	Q9P266	K1462_HUMAN	M	766	ENSP00000364526:R766M	ENSP00000364526:R766M	R	-	2	0	KIAA1462	30356786	1.000000	0.71417	0.663000	0.29738	0.027000	0.11550	3.448000	0.52943	1.437000	0.47472	0.655000	0.94253	AGG		PASS	0.607	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		5	21	5	21	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32324501	32324501	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:32324501G>T	ENST00000302418.4	-	10	1368	c.911C>A	c.(910-912)cCa>cAa	p.P304Q		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	304	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.P304Q(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GTATGATGATGGAGAGCAGCA	0.338			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3				Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(910-912)CCA>CAA		kinesin family member 5B							107.0	102.0	104.0					10																	32324501		2203	4299	6502	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32324501G>T	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.911C>A	10.37:g.32324501G>T	ENSP00000307078:p.Pro304Gln						p.P304Q	NM_004521	NP_004512	P33176	KINH_HUMAN			10	1381	-		Prostate(175;0.0137)	304			Kinesin-motor.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.911C>A	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023599	0.93462	.	.	ENSG00000170759	ENST00000302418	T	0.81163	-1.46	5.68	5.68	0.88126	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93497	0.7925	H	0.95884	3.735	0.80722	D	1	D	0.63880	0.993	D	0.77004	0.989	D	0.94977	0.8122	10	0.87932	D	0	.	19.7919	0.96463	0.0:0.0:1.0:0.0	.	304	P33176	KINH_HUMAN	Q	304	ENSP00000307078:P304Q	ENSP00000307078:P304Q	P	-	2	0	KIF5B	32364507	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.779000	0.99018	2.675000	0.91044	0.655000	0.94253	CCA		PASS	0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		8	100	8	100	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37438709	37438709	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:37438709C>A	ENST00000602533.1	+	11	1508	c.1409C>A	c.(1408-1410)gCc>gAc	p.A470D	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A470D|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A470D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	526					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A470D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGCCTGCCATTGAAATG	0.279																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1408-1410)GCC>GAC		ankyrin repeat domain 30A							103.0	96.0	98.0					10																	37438709		1800	4065	5865	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37438709C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1409C>A	10.37:g.37438709C>A	ENSP00000473551:p.Ala470Asp						p.A470D	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			11	1508	+			526					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1409C>A		.	.	.	.	.	.	.	.	.	.	.	9.483	1.098663	0.20552	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.08984	3.03;3.03	1.28	-1.03	0.10102	.	.	.	.	.	T	0.12050	0.0293	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	D	0.73708	0.981	T	0.20505	-1.0273	9	0.48119	T	0.1	.	1.9202	0.03306	0.3159:0.4572:0.0:0.2269	.	526	Q9BXX3	AN30A_HUMAN	D	470	ENSP00000354432:A470D;ENSP00000363792:A470D	ENSP00000354432:A470D	A	+	2	0	ANKRD30A	37478715	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	0.208000	0.17415	-0.330000	0.08514	-0.820000	0.03113	GCC		PASS	0.279	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		34	173	34	173	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55912957	55912957	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:55912957C>T	ENST00000320301.6	-	14	2081	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	PCDH15_ENST00000373965.2_Missense_Mutation_p.G570R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G563R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.G563R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G174R|PCDH15_ENST00000373955.1_Missense_Mutation_p.G563R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G563R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G563R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G568R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G541R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G563R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G570R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G526R|PCDH15_ENST00000373957.3_Missense_Mutation_p.G541R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G563R(2)|p.G568R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGATAAGCCCTGTTGTTTTA	0.527										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1687-1689)GGG>AGG		protocadherin 15 isoform CD1-4 precursor							156.0	139.0	145.0					10																	55912957		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912957C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1687G>A	10.37:g.55912957C>T	ENSP00000322604:p.Gly563Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.G568R|PCDH15_uc010qhr.1_Missense_Mutation_p.G563R|PCDH15_uc010qhs.1_Missense_Mutation_p.G575R|PCDH15_uc010qht.1_Missense_Mutation_p.G570R|PCDH15_uc010qhu.1_Missense_Mutation_p.G563R|PCDH15_uc001jjv.1_Missense_Mutation_p.G541R|PCDH15_uc010qhv.1_Missense_Mutation_p.G563R|PCDH15_uc010qhw.1_Missense_Mutation_p.G526R|PCDH15_uc010qhx.1_Missense_Mutation_p.G563R|PCDH15_uc010qhy.1_Missense_Mutation_p.G568R|PCDH15_uc010qhz.1_Missense_Mutation_p.G563R|PCDH15_uc010qia.1_Missense_Mutation_p.G541R|PCDH15_uc010qib.1_Missense_Mutation_p.G541R|PCDH15_uc001jjw.2_Missense_Mutation_p.G563R	p.G563R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			14	2082	-		Melanoma(3;0.117)|Lung SC(717;0.238)	563			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1687G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952782	0.92660	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.53	5.53	0.82687	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.97742	0.9259	H	0.99211	4.47	0.58432	D	0.999999	D;D;D;D;D;D;D;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;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0	D	0.99013	1.0815	9	0.87932	D	0	.	19.4327	0.94778	0.0:1.0:0.0:0.0	.	541;563;563;568;563;526;563;563;570;570;563;568;563;541;563	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	570;568;563;563;174;570;563;526;563;541;541;563;563;568;563;563	ENSP00000363076:G570R;ENSP00000410304:G568R;ENSP00000378826:G563R;ENSP00000386693:G174R;ENSP00000378832:G570R;ENSP00000378833:G563R;ENSP00000378820:G526R;ENSP00000354950:G563R;ENSP00000378821:G541R;ENSP00000363068:G541R;ENSP00000322604:G563R;ENSP00000378818:G563R;ENSP00000412628:G563R;ENSP00000363066:G563R	ENSP00000322604:G563R	G	-	1	0	PCDH15	55582963	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.304000	0.78882	2.764000	0.94973	0.650000	0.86243	GGG		PASS	0.527	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	51	7	51	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55913005	55913005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:55913005C>A	ENST00000320301.6	-	14	2033	c.1639G>T	c.(1639-1641)Gaa>Taa	p.E547*	PCDH15_ENST00000373965.2_Nonsense_Mutation_p.E554*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E547*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E547*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E158*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E547*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E547*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E547*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E552*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E525*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E547*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E554*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E510*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E525*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E552*(2)|p.E547*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAGGATTTCATATGTGATC	0.478										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Nonsense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1639-1641)GAA>TAA		protocadherin 15 isoform CD1-4 precursor							152.0	139.0	143.0					10																	55913005		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55913005C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1639G>T	10.37:g.55913005C>A	ENSP00000322604:p.Glu547*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.E552*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.E559*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E554*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.E547*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.E525*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E510*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.E552*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E525*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E525*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.E547*	p.E547*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			14	2034	-		Melanoma(3;0.117)|Lung SC(717;0.238)	547			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.1639G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	43	9.983163	0.99310	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.7309	0.69379	0.0:0.9256:0.0:0.0743	.	.	.	.	X	554;552;547;547;158;554;547;510;547;525;525;547;547;552;547;547	.	ENSP00000322604:E547X	E	-	1	0	PCDH15	55583011	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.621000	0.54210	2.696000	0.92011	0.557000	0.71058	GAA		PASS	0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		17	64	17	64	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61011407	61011407	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:61011407G>T	ENST00000373868.2	-	13	1649	c.1562C>A	c.(1561-1563)aCt>aAt	p.T521N	FAM13C_ENST00000373867.3_Missense_Mutation_p.T437N|FAM13C_ENST00000277705.6_Missense_Mutation_p.T541N|FAM13C_ENST00000468840.2_Missense_Mutation_p.T438N|FAM13C_ENST00000435852.2_Missense_Mutation_p.T521N|FAM13C_ENST00000442566.3_Missense_Mutation_p.T542N|FAM13C_ENST00000419214.2_Missense_Mutation_p.T423N	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	521								p.T521N(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCAGCCCTAGTTTCTCGGAG	0.393																																						uc001jkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1561-1563)ACT>AAT		hypothetical protein LOC220965 isoform 1							132.0	145.0	141.0					10																	61011407		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61011407G>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1562C>A	10.37:g.61011407G>T	ENSP00000362975:p.Thr521Asn					FAM13C_uc001jko.2_Missense_Mutation_p.T423N|FAM13C_uc010qid.1_Missense_Mutation_p.T437N|FAM13C_uc010qie.1_Missense_Mutation_p.T438N|FAM13C_uc010qif.1_Missense_Mutation_p.T543N	p.T521N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			14	1696	-			521					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1562C>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361150	0.82353	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.51071	0.77;0.73;0.72;0.78;0.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	L	0.46157	1.445	0.42012	D	0.990944	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.996;0.999	T	0.65434	-0.6169	10	0.72032	D	0.01	-8.5282	18.0824	0.89445	0.0:0.0:1.0:0.0	.	521;437;423;521	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	N	437;521;542;541;423;438;521	ENSP00000362975:T521N;ENSP00000395661:T542N;ENSP00000277705:T541N;ENSP00000391993:T423N;ENSP00000392302:T521N	ENSP00000277705:T541N	T	-	2	0	FAM13C	60681413	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.214000	0.77958	2.698000	0.92095	0.591000	0.81541	ACT		PASS	0.393	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			7	164	7	164	---	---	---	---
NRBF2	29982	broad.mit.edu	37	10	64893254	64893254	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:64893254C>A	ENST00000277746.6	+	1	205	c.24C>A	c.(22-24)ctC>ctA	p.L8L	NRBF2_ENST00000435510.2_Missense_Mutation_p.Q27K	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	8					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)		p.L8L(1)		large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGGACCCCTCAACCTGGTGA	0.632																																						uc001jmj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTC>CTA		nuclear receptor binding factor 2							56.0	48.0	51.0					10																	64893254		2203	4300	6503	SO:0001819	synonymous_variant	29982				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding	g.chr10:64893254C>A	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.24C>A	10.37:g.64893254C>A						NRBF2_uc010qip.1_Missense_Mutation_p.Q27K	p.L8L	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN			1	248	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		8					A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Silent	SNP	ENST00000277746.6	37	c.24C>A	CCDS7268.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004292	0.54254	.	.	ENSG00000148572	ENST00000435510	.	.	.	4.63	1.48	0.22813	.	.	.	.	.	T	0.31358	0.0794	.	.	.	0.21416	N	0.999697	B	0.02656	0.0	B	0.01281	0.0	T	0.30592	-0.9973	7	0.87932	D	0	-0.2742	7.6565	0.28379	0.1779:0.4771:0.3451:0.0	.	27	B4DWS0	.	K	27	.	ENSP00000397502:Q27K	Q	+	1	0	NRBF2	64563260	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.242000	0.18087	0.646000	0.30693	-0.304000	0.09214	CAA		PASS	0.632	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759		4	12	4	12	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	69299393	69299394	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:69299393_69299394TG>CT	ENST00000433211.2	-	4	500_501	c.326_327CA>AG	c.(325-327)aCA>aAG	p.T109K	CTNNA3_ENST00000545309.1_Missense_Mutation_p.T109K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.T109K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T109K(4)|p.T109T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGGGGTCATCTGTAAATCTCTC	0.446																																						uc009xpn.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(325-327)ACA>ACG|c.(325-327)ACA>AAA		catenin, alpha 3																																				SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69299393T>C|g.chr10:69299394G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.326_327delinsCT	10.37:g.69299393_69299394delinsCT	ENSP00000389714:p.Thr109Lys					CTNNA3_uc001jmw.2_Silent_p.T109T|CTNNA3_uc001jmx.3_Silent_p.T109T|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Silent_p.T121T|CTNNA3_uc001jmw.2_Missense_Mutation_p.T109K|CTNNA3_uc001jmx.3_Missense_Mutation_p.T109K|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.T121K	p.T109T|p.T109K	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			4	450|449	-			109			Potential.			Silent|Missense_Mutation	SNP	ENST00000433211.2	37	c.327A>G|c.326C>A	CCDS7269.1																																																																																				PASS	0.446	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		10|11	53|52	10	52	---	---	---	---
SIRT1	23411	broad.mit.edu	37	10	69651214	69651214	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:69651214C>A	ENST00000212015.6	+	4	897	c.844C>A	c.(844-846)Cgc>Agc	p.R282S	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	282	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R282S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TATTTATGCTCGCCTTGCTGT	0.378																																						uc001jnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)CGC>AGC		sirtuin 1 isoform a							220.0	213.0	215.0					10																	69651214		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69651214C>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.844C>A	10.37:g.69651214C>A	ENSP00000212015:p.Arg282Ser					SIRT1_uc010qis.1_5'UTR|SIRT1_uc009xpp.2_Missense_Mutation_p.R90S|SIRT1_uc001jne.2_5'UTR	p.R282S	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN			4	897	+			282			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.844C>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083462	0.94050	.	.	ENSG00000096717	ENST00000212015	T	0.46819	0.86	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70718	-0.4795	10	0.87932	D	0	-5.7955	17.7449	0.88418	0.0:1.0:0.0:0.0	.	282	Q96EB6	SIRT1_HUMAN	S	282	ENSP00000212015:R282S	ENSP00000212015:R282S	R	+	1	0	SIRT1	69321220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.479000	0.66813	2.495000	0.84180	0.557000	0.71058	CGC		PASS	0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			6	142	6	142	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70411606	70411606	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:70411606G>T	ENST00000373644.4	+	5	4489	c.4280G>T	c.(4279-4281)cGa>cTa	p.R1427L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1427					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R1427L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCCACAGATCGAGTTATACAA	0.418																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(4279-4281)CGA>CTA		CXXC finger 6							114.0	122.0	120.0					10																	70411606		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70411606G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4280G>T	10.37:g.70411606G>T	ENSP00000362748:p.Arg1427Leu						p.R1427L	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			5	4785	+			1427					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4280G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666988	0.88251	.	.	ENSG00000138336	ENST00000373644	T	0.18502	2.21	5.83	4.83	0.62350	TET cysteine-rich domain (1);	0.545863	0.16419	N	0.215229	T	0.12305	0.0299	N	0.14661	0.345	0.80722	D	1	P	0.51057	0.941	P	0.48571	0.582	T	0.02020	-1.1228	10	0.62326	D	0.03	.	3.8412	0.08915	0.3238:0.0:0.6762:0.0	.	1427	Q8NFU7	TET1_HUMAN	L	1427	ENSP00000362748:R1427L	ENSP00000362748:R1427L	R	+	2	0	TET1	70081612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.934000	0.75880	2.755000	0.94549	0.650000	0.86243	CGA		PASS	0.418	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		6	162	6	162	---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70644837	70644837	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:70644837C>A	ENST00000298596.6	+	3	1368	c.1285C>A	c.(1285-1287)Cga>Aga	p.R429R	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.R319R|STOX1_ENST00000399169.4_Silent_p.R429R|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	429						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R429R(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGGCCATTCTCGAAGGGATAG	0.512																																						uc001jos.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|skin(1)	2						c.(1285-1287)CGA>AGA		storkhead box 1 isoform a							143.0	148.0	147.0					10																	70644837		1971	4141	6112	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644837C>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1285C>A	10.37:g.70644837C>A						STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.R319R	p.R429R	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	1372	+			429					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.1285C>A	CCDS41535.1																																																																																				PASS	0.512	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		6	154	6	154	---	---	---	---
CAMK2G	818	broad.mit.edu	37	10	75620621	75620621	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:75620621G>T	ENST00000351293.3	-	3	244	c.187C>A	c.(187-189)Cgg>Agg	p.R63R	CAMK2G_ENST00000423381.1_Silent_p.R63R|CAMK2G_ENST00000322635.3_Silent_p.R63R|CAMK2G_ENST00000305762.7_Silent_p.R63R|CAMK2G_ENST00000322680.3_Silent_p.R63R|CAMK2G_ENST00000444854.2_Silent_p.R63R|CAMK2G_ENST00000394762.2_Silent_p.R63R|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.R63R	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.R63R(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CGACATATCCGAGCCTCACGT	0.433																																						uc001jvv.1																			2	Substitution - coding silent(2)		lung(2)	lung(1)|stomach(1)	2						c.(163-165)CGG>AGG		calcium/calmodulin-dependent protein kinase II							160.0	151.0	154.0					10																	75620621		2203	4300	6503	SO:0001819	synonymous_variant	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75620621G>T	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.187C>A	10.37:g.75620621G>T						CAMK2G_uc001jvm.1_Silent_p.R63R|CAMK2G_uc001jvo.1_Silent_p.R63R|CAMK2G_uc001jvq.1_Silent_p.R63R|CAMK2G_uc001jvr.1_Silent_p.R63R|CAMK2G_uc001jvp.1_Silent_p.R63R|CAMK2G_uc001jvs.1_Silent_p.R63R|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.R63R|CAMK2G_uc010qkv.1_5'UTR	p.R55R	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			3	287	-	Prostate(51;0.0112)		63			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000351293.3	37	c.163C>A	CCDS7336.1																																																																																				PASS	0.433	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		5	122	5	122	---	---	---	---
SAMD8	142891	broad.mit.edu	37	10	76928351	76928351	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:76928351C>A	ENST00000542569.1	+	4	830	c.727C>A	c.(727-729)Cgc>Agc	p.R243S	SAMD8_ENST00000372690.3_Missense_Mutation_p.R306S|SAMD8_ENST00000372687.4_Missense_Mutation_p.R243S	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	243					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.R306S(1)|p.R243S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATTCTTGCTTCGCTGCTTTAC	0.453																																						uc001jwx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(727-729)CGC>AGC		sterile alpha motif domain containing 8							344.0	313.0	324.0					10																	76928351		2203	4300	6503	SO:0001583	missense	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928351C>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.727C>A	10.37:g.76928351C>A	ENSP00000438042:p.Arg243Ser					SAMD8_uc001jwy.1_Missense_Mutation_p.R243S	p.R243S	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN			4	830	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		243			Helical; (Potential).		Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.727C>A	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531080	0.96446	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97812	1.0251	10	0.87932	D	0	-6.2394	19.5724	0.95427	0.0:1.0:0.0:0.0	.	243;243	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	S	243;306;243;243	ENSP00000391799:R243S;ENSP00000361775:R306S;ENSP00000438042:R243S;ENSP00000361772:R243S	ENSP00000361772:R243S	R	+	1	0	SAMD8	76598357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.624000	0.88883	0.650000	0.86243	CGC		PASS	0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		5	118	5	118	---	---	---	---
IFIT5	24138	broad.mit.edu	37	10	91177842	91177842	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:91177842C>A	ENST00000371795.4	+	2	1099	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K	IFIT5_ENST00000416601.1_Missense_Mutation_p.Q248K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	296					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)	p.Q296K(1)		endometrium(1)|large_intestine(4)|lung(4)	9						CTACAGGGCACAAATGATCCA	0.408																																						uc010qnh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)CAA>AAA		interferon-induced protein with							93.0	95.0	94.0					10																	91177842		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91177842C>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.886C>A	10.37:g.91177842C>A	ENSP00000360860:p.Gln296Lys					IFIT5_uc010qng.1_Missense_Mutation_p.Q248K	p.Q296K	NM_012420	NP_036552	Q13325	IFIT5_HUMAN			2	1117	+			296					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.886C>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	6.285	0.420694	0.11928	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.52295	0.67;0.67	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.050314	0.85682	D	0.000000	T	0.25306	0.0615	N	0.10733	0.035	0.22737	N	0.998799	B;B	0.18610	0.029;0.029	B;B	0.18871	0.023;0.023	T	0.08953	-1.0697	10	0.02654	T	1	-13.0746	14.4975	0.67700	0.1558:0.8442:0.0:0.0	.	296;248	Q13325;B4DDV1	IFIT5_HUMAN;.	K	296;248	ENSP00000360860:Q296K;ENSP00000414042:Q248K	ENSP00000360860:Q296K	Q	+	1	0	IFIT5	91167822	0.216000	0.23585	0.997000	0.53966	0.983000	0.72400	1.045000	0.30341	2.746000	0.94184	0.655000	0.94253	CAA		PASS	0.408	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		6	79	6	79	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96018841	96018841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:96018841G>T	ENST00000371380.3	+	12	3983	c.3748G>T	c.(3748-3750)Gag>Tag	p.E1250*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E942*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E942*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.E1250*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.E942*(1)|p.E1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTGGCTCCGAGTCAGCCCC	0.483																																						uc001kjk.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3748-3750)GAG>TAG		phospholipase C, epsilon 1 isoform 1							159.0	158.0	158.0					10																	96018841		2020	4190	6210	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018841G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3748G>T	10.37:g.96018841G>T	ENSP00000360431:p.Glu1250*					PLCE1_uc010qnx.1_Nonsense_Mutation_p.E1234*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.E942*	p.E1250*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			13	4382	+		Colorectal(252;0.0458)	1250					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.3748G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	45	12.011570	0.99627	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.77	4.86	0.63082	.	0.060426	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.0802	0.72108	0.0682:0.0:0.9318:0.0	.	.	.	.	X	1250;1250;942;942	.	ENSP00000260766:E1250X	E	+	1	0	PLCE1	96008831	1.000000	0.71417	0.141000	0.22245	0.074000	0.17049	7.979000	0.88103	1.449000	0.47699	0.555000	0.69702	GAG		PASS	0.483	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		5	78	5	78	---	---	---	---
TCTN3	26123	broad.mit.edu	37	10	97423886	97423886	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:97423886C>T	ENST00000371217.5	-	14	1785	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I	TCTN3_ENST00000265993.9_Missense_Mutation_p.V606I|TCTN3_ENST00000430368.2_Missense_Mutation_p.V440I			Q6NUS6	TECT3_HUMAN	tectonic family member 3	588					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V588I(2)|p.V410I(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		ATGGGAGAGACTGAGCATTTT	0.438																																						uc001klb.3																			3	Substitution - Missense(3)		lung(3)		0						c.(1762-1764)GTC>ATC		tectonic 3 isoform a precursor							206.0	213.0	210.0					10																	97423886		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97423886C>T	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1762G>A	10.37:g.97423886C>T	ENSP00000360261:p.Val588Ile					TCTN3_uc001kla.3_Missense_Mutation_p.V432I|TCTN3_uc010qoi.1_Missense_Mutation_p.V440I	p.V588I	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	14	2006	-		Colorectal(252;0.0815)	588			Helical; (Potential).		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1762G>A	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	C	2.289	-0.363006	0.05103	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.82526	-1.62	5.78	-4.31	0.03698	.	1.930910	0.02373	N	0.078082	T	0.60830	0.2299	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.49735	-0.8908	10	0.19590	T	0.45	-32.26	1.5112	0.02496	0.128:0.2102:0.2508:0.411	.	440;588;410	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	I	588;440;606;410	ENSP00000265993:V588I	ENSP00000265993:V588I	V	-	1	0	TCTN3	97413876	0.000000	0.05858	0.008000	0.14137	0.029000	0.11900	-1.549000	0.02182	-0.400000	0.07656	-0.244000	0.11960	GTC		PASS	0.438	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		41	101	41	101	---	---	---	---
EXOSC1	51013	broad.mit.edu	37	10	99198446	99198446	+	Missense_Mutation	SNP	C	C	A	rs141065374		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:99198446C>A	ENST00000370902.3	-	5	357	c.326G>T	c.(325-327)cGa>cTa	p.R109L	EXOSC1_ENST00000370885.4_Missense_Mutation_p.R84L|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Missense_Mutation_p.R109L|EXOSC1_ENST00000370886.5_Missense_Mutation_p.R109L	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	109	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R109L(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TTCAGTTGCTCGGACATCTTC	0.338																																						uc001kni.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CGA>CTA		exosomal core protein CSL4							146.0	167.0	160.0					10																	99198446		2203	4300	6503	SO:0001583	missense	51013				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	g.chr10:99198446C>A	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"""CSL4 exosomal core protein homolog (yeast)"""	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.326G>T	10.37:g.99198446C>A	ENSP00000359939:p.Arg109Leu					EXOSC1_uc009xvp.1_Intron	p.R109L	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)	5	352	-		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)	109			S1 motif.		B2R9B3|Q5JTH3	Missense_Mutation	SNP	ENST00000370902.3	37	c.326G>T	CCDS7459.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421717	0.83559	.	.	ENSG00000171311	ENST00000370902;ENST00000370886;ENST00000370885	.	.	.	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	0.112477	0.64402	D	0.000010	T	0.75824	0.3902	M	0.82517	2.595	0.80722	D	1	D	0.57571	0.98	P	0.50860	0.652	T	0.78687	-0.2107	9	0.62326	D	0.03	-14.5216	20.0397	0.97574	0.0:1.0:0.0:0.0	.	109	Q9Y3B2	EXOS1_HUMAN	L	109;109;84	.	ENSP00000359922:R84L	R	-	2	0	EXOSC1	99188436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.724000	0.74747	2.833000	0.97629	0.655000	0.94253	CGA		PASS	0.338	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049680.1			8	269	8	269	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102716225	102716225	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:102716225C>A	ENST00000238961.4	+	18	3890	c.3348C>A	c.(3346-3348)ctC>ctA	p.L1116L	FAM178A_ENST00000370269.3_Silent_p.L1116L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1116						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L1116L(1)									TTGTGCTACTCTGTGGGGCTT	0.323																																						uc001krt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3346-3348)CTC>CTA		hypothetical protein LOC55719 isoform 1							143.0	142.0	142.0					10																	102716225		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102716225C>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3348C>A	10.37:g.102716225C>A						FAM178A_uc001krs.2_Silent_p.L1116L	p.L1116L	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			18	3890	+			1116					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.3348C>A	CCDS7500.1																																																																																				PASS	0.323	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			8	124	8	124	---	---	---	---
SUFU	51684	broad.mit.edu	37	10	104352370	104352370	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:104352370C>A	ENST00000369902.3	+	4	652	c.486C>A	c.(484-486)tcC>tcA	p.S162S	SUFU_ENST00000471000.1_3'UTR|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000423559.2_Silent_p.S162S|SUFU_ENST00000369899.2_Silent_p.S162S	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	162					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S162S(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACCATGTGTCCTGGCACAGCC	0.542			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.1			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	D|F|S	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(2)|breast(1)	7						c.(484-486)TCC>TCA		suppressor of fused							126.0	116.0	119.0					10																	104352370		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma_associated_with_Germline_SUFU_Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104352370C>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.486C>A	10.37:g.104352370C>A						SUFU_uc001kvw.1_Silent_p.S162S|SUFU_uc001kvx.2_Silent_p.S162S	p.S162S	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	4	632	+		Colorectal(252;0.207)	162					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.486C>A	CCDS7537.1																																																																																				PASS	0.542	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		6	69	6	69	---	---	---	---
TAF5	6877	broad.mit.edu	37	10	105147936	105147936	+	Silent	SNP	C	C	A	rs377507174		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:105147936C>A	ENST00000369839.3	+	11	2382	c.2359C>A	c.(2359-2361)Cga>Aga	p.R787R	TAF5_ENST00000351396.4_Silent_p.R732R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	787				R -> L (in Ref. 8; AAH52268). {ECO:0000305}.	chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R787R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TCATTTTACTCGAAGAAACCT	0.378																																						uc001kwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2359-2361)CGA>AGA		TBP-associated factor 5							103.0	103.0	103.0					10																	105147936		2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105147936C>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2359C>A	10.37:g.105147936C>A						TAF5_uc010qqq.1_Silent_p.R732R	p.R787R	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	11	2382	+		Colorectal(252;0.0747)|Breast(234;0.128)	787	R -> L (in Ref. 8; AAH52268).				A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.2359C>A	CCDS7547.1																																																																																				PASS	0.378	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			5	49	5	49	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105778545	105778545	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:105778545G>T	ENST00000369755.3	+	15	3556	c.3011G>T	c.(3010-3012)cGa>cTa	p.R1004L	SLK_ENST00000335753.4_Missense_Mutation_p.R973L|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1004					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R1004L(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTCTAGCTCGAGAAGCTGCA	0.353																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(3010-3012)CGA>CTA		serine/threonine kinase 2							86.0	90.0	89.0					10																	105778545		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105778545G>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3011G>T	10.37:g.105778545G>T	ENSP00000358770:p.Arg1004Leu					SLK_uc001kxp.1_Missense_Mutation_p.R973L	p.R1004L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	15	3045	+		Colorectal(252;0.178)	1004			Potential.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3011G>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204106	0.95033	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.81163	-1.46;-1.19	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	D	0.90356	0.4370	10	0.87932	D	0	.	19.0052	0.92848	0.0:0.0:1.0:0.0	.	973;1004	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	L	973;1004	ENSP00000336824:R973L;ENSP00000358770:R1004L	ENSP00000336824:R973L	R	+	2	0	SLK	105768535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.425000	0.97467	2.501000	0.84356	0.462000	0.41574	CGA		PASS	0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		5	87	5	87	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105921789	105921789	+	Missense_Mutation	SNP	G	G	T	rs145489927		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:105921789G>T	ENST00000357060.3	-	26	3459	c.3344C>A	c.(3343-3345)aCa>aAa	p.T1115K	WDR96_ENST00000428666.1_Missense_Mutation_p.T1116K	NM_025145.5	NP_079421.5												p.T1115K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGGAGTCTTGTACTGGCATC	0.468																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3343-3345)ACA>AAA		hypothetical protein LOC80217		G	LYS/THR	1,4405	2.1+/-5.4	0,1,2202	201.0	204.0	203.0		3344	-3.5	0.0	10	dbSNP_134	203	0,8600		0,0,4300	no	missense	WDR96	NM_025145.5	78	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1115/1666	105921789	1,13005	2203	4300	6503	SO:0001583	missense	80217							g.chr10:105921789G>T																												ENST00000357060.3:c.3344C>A	10.37:g.105921789G>T	ENSP00000349568:p.Thr1115Lys					C10orf79_uc009xxq.2_Missense_Mutation_p.T423K	p.T1115K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	26	3460	-		Colorectal(252;0.178)	1115						Missense_Mutation	SNP	ENST00000357060.3	37	c.3344C>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.40|10.40	1.339394|1.339394	0.24339|0.24339	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197748|ENSG00000197748	ENST00000434629|ENST00000357060;ENST00000428666	.|T;T	.|0.13657	.|2.57;2.59	5.73|5.73	-3.52|-3.52	0.04682|0.04682	.|.	.|1.178480	.|0.05930	.|N	.|0.635063	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12013	.|0.005;0.005	.|B;B	.|0.19666	.|0.026;0.02	T|T	0.41233|0.41233	-0.9520|-0.9520	5|10	.|0.06365	.|T	.|0.9	.|.	5.7076|5.7076	0.17917|0.17917	0.2819:0.0:0.456:0.2621|0.2819:0.0:0.456:0.2621	.|.	.|1116;1115	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	K|K	476|1115;1116	.|ENSP00000349568:T1115K;ENSP00000400289:T1116K	.|ENSP00000349568:T1115K	Q|T	-|-	1|2	0|0	WDR96|WDR96	105911779|105911779	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	0.472000|0.472000	0.22116|0.22116	-0.919000|-0.919000	0.03803|0.03803	0.637000|0.637000	0.83480|0.83480	CAA|ACA		PASS	0.468	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	154	7	154	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118352021	118352022	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:118352021_118352022GG>AT	ENST00000528052.1	+	4	369_370	c.298_299GG>AT	c.(298-300)GGa>ATa	p.G100I	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.G100I|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.G100I|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.G100I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	100					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.G100V(1)|p.G100I(1)|p.G100R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CATAGACAAAGGAGATGAGAGC	0.48																																						uc001lco.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)	2						c.(298-300)GGA>AGA|c.(298-300)GGA>GTA		pancreatic lipase-related protein 1 precursor																																				SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118352021G>A|g.chr10:118352022G>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	Exception_encountered	10.37:g.118352021_118352022delinsAT	ENSP00000433933:p.Gly100Ile					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G100R|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.G100R|PNLIPRP1_uc009xys.1_RNA|PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G100V|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.G100V|PNLIPRP1_uc009xys.1_RNA	p.G100R|p.G100V	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	4	316|317	+			100					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.298G>A|c.299G>T	CCDS7595.1																																																																																				PASS	0.480	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		32	62|61	32	61	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124399962	124399962	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:124399962G>T	ENST00000338354.3	+	52	7068	c.6962G>T	c.(6961-6963)aGt>aTt	p.S2321I	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1693I|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2311I|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2311I|DMBT1_ENST00000359586.6_Missense_Mutation_p.S1041I|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2321I|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1693I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2321	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.S2321I(2)|p.S2450I(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTAATCCGGAGTGGGTAAGGA	0.433																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(6961-6963)AGT>ATT		deleted in malignant brain tumors 1 isoform b							49.0	48.0	48.0					10																	124399962		2017	4175	6192	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399962G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6962G>T	10.37:g.124399962G>T	ENSP00000342210:p.Ser2321Ile					DMBT1_uc001lgl.1_Missense_Mutation_p.S2311I|DMBT1_uc001lgm.1_Missense_Mutation_p.S1693I|DMBT1_uc009xzz.1_Missense_Mutation_p.S2320I|DMBT1_uc010qtx.1_Missense_Mutation_p.S1041I|DMBT1_uc009yab.1_Missense_Mutation_p.S1024I|DMBT1_uc009yac.1_Missense_Mutation_p.S615I	p.S2321I	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	7068	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2321			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6962G>T		.	.	.	.	.	.	.	.	.	.	G	15.15	2.746741	0.49257	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.63	4.62	0.57501	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.151060	0.30185	U	0.010201	D	0.87728	0.6250	M	0.78049	2.395	0.36454	D	0.866261	D;D;D;D;D;D;D	0.71674	0.998;0.986;0.993;0.998;0.998;0.998;0.998	D;P;P;D;D;P;D	0.66979	0.914;0.814;0.858;0.914;0.914;0.858;0.948	D	0.89270	0.3604	10	0.87932	D	0	.	3.6402	0.08163	0.34:0.0:0.66:0.0	.	1041;2301;1570;2450;1693;2311;2321	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	I	2321;2450;2321;2321;2321;2320;1693;2311;1693;1693;2321;2311;1693;467;1041	ENSP00000342210:S2321I;ENSP00000343175:S2311I;ENSP00000327747:S1693I;ENSP00000357905:S2321I;ENSP00000357951:S2311I;ENSP00000357952:S1693I;ENSP00000352593:S1041I	ENSP00000331522:S1693I	S	+	2	0	DMBT1	124389952	0.472000	0.25870	0.676000	0.29932	0.031000	0.12232	2.109000	0.41863	2.652000	0.90054	0.655000	0.94253	AGT		PASS	0.433	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		4	21	4	21	---	---	---	---
BUB3	9184	broad.mit.edu	37	10	124921780	124921780	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:124921780G>T	ENST00000368865.4	+	6	814	c.605G>T	c.(604-606)cGa>cTa	p.R202L	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368858.5_Missense_Mutation_p.R202L|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000538238.1_Missense_Mutation_p.R122L	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	202					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.R202L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ATTGAAGGCCGAGTGGCAGTT	0.393																																					GBM(161;1111 1985 17553 20049 26037)	uc001lhe.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(604-606)CGA>CTA		budding uninhibited by benzimidazoles 3 isoform							196.0	214.0	208.0					10																	124921780		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124921780G>T	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.605G>T	10.37:g.124921780G>T	ENSP00000357858:p.Arg202Leu					BUB3_uc009yah.2_Missense_Mutation_p.R154L|BUB3_uc001lhf.3_Missense_Mutation_p.R202L|BUB3_uc001lhd.2_Missense_Mutation_p.R202L|BUB3_uc010qud.1_Missense_Mutation_p.R122L	p.R202L	NM_004725	NP_004716	O43684	BUB3_HUMAN			6	847	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	202					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.605G>T	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977166	0.92982	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.70399	-0.48;1.58;-0.48;-0.48	5.5	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92901	0.6339	10	0.87932	D	0	-4.8033	14.363	0.66785	0.0714:0.0:0.9286:0.0	.	202;202	O43684;O43684-2	BUB3_HUMAN;.	L	202;122;202;202	ENSP00000357858:R202L;ENSP00000444354:R122L;ENSP00000357851:R202L;ENSP00000383941:R202L	ENSP00000357851:R202L	R	+	2	0	BUB3	124911770	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.767000	0.98960	1.448000	0.47680	0.650000	0.86243	CGA		PASS	0.393	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			8	191	8	191	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129903464	129903464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:129903464C>A	ENST00000368654.3	-	13	7015	c.6640G>T	c.(6640-6642)Gag>Tag	p.E2214*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.E1854*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2214	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E2214*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTAGTTTTCTCATGAGTCGTG	0.498																																						uc001lke.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6640-6642)GAG>TAG		antigen identified by monoclonal antibody Ki-67							238.0	230.0	233.0					10																	129903464		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903464C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6640G>T	10.37:g.129903464C>A	ENSP00000357643:p.Glu2214*					MKI67_uc001lkf.2_Nonsense_Mutation_p.E1854*|MKI67_uc009yav.1_Nonsense_Mutation_p.E1789*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E1364*	p.E2214*	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6835	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2214			16 X 122 AA approximate repeats.|11.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.6640G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	47	13.537107	0.99748	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	2.35	2.35	0.29111	.	1.476720	0.04679	N	0.412111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	8.2974	0.31993	0.0:1.0:0.0:0.0	.	.	.	.	X	2214;1854;2213	.	ENSP00000357642:E1854X	E	-	1	0	MKI67	129793454	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.419000	0.07071	1.640000	0.50565	0.561000	0.74099	GAG		PASS	0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		11	163	11	163	---	---	---	---
GLRX3	10539	broad.mit.edu	37	10	131959237	131959237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr10:131959237G>T	ENST00000368644.1	+	4	476	c.454G>T	c.(454-456)Gga>Tga	p.G152*	GLRX3_ENST00000331244.5_Nonsense_Mutation_p.G152*	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	152	Glutaredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.G152*(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTATGAAAGGAACTCCTCA	0.453																																						uc001lkm.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(454-456)GGA>TGA		glutaredoxin 3							80.0	75.0	77.0					10																	131959237		2203	4300	6503	SO:0001587	stop_gained	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131959237G>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.454G>T	10.37:g.131959237G>T	ENSP00000357633:p.Gly152*					GLRX3_uc001lkn.1_Nonsense_Mutation_p.G152*|GLRX3_uc001lko.2_RNA	p.G152*	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	4	476	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	152			Glutaredoxin 1.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Nonsense_Mutation	SNP	ENST00000368644.1	37	c.454G>T	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659972	0.88154	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.6968	16.1661	0.81757	0.0:0.0:1.0:0.0	.	.	.	.	X	152	.	ENSP00000330836:G152X	G	+	1	0	GLRX3	131849227	1.000000	0.71417	0.187000	0.23214	0.778000	0.44026	9.060000	0.93907	2.284000	0.76573	0.655000	0.94253	GGA		PASS	0.453	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		7	64	7	64	---	---	---	---
CD81	975	broad.mit.edu	37	11	2415351	2415351	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:2415351G>A	ENST00000263645.5	+	3	464	c.208G>A	c.(208-210)Gct>Act	p.A70T	CD81_ENST00000492627.1_De_novo_Start_OutOfFrame|CD81_ENST00000481687.1_Missense_Mutation_p.A76T|CD81_ENST00000526072.1_De_novo_Start_OutOfFrame|CD81_ENST00000381036.3_Missense_Mutation_p.A108T|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	70					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)	p.A70T(1)		endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGCTGTGGGCGCTGTCATGAT	0.652																																						uc001lwf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GCT>ACT		CD81 antigen							184.0	121.0	143.0					11																	2415351		2202	4299	6501	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2415351G>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.208G>A	11.37:g.2415351G>A	ENSP00000263645:p.Ala70Thr					CD81_uc001lwg.1_Missense_Mutation_p.A63T|CD81_uc001lwh.1_5'Flank	p.A70T	NM_004356	NP_004347	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	441	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	70			Helical; (Potential).		P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.208G>A	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317951	0.81469	.	.	ENSG00000110651	ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252;ENST00000481687	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	3.67	3.67	0.42095	Tetraspanin, conserved site (1);	0.060633	0.64402	D	0.000004	D	0.88112	0.6349	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.97	D	0.88648	0.3180	10	0.48119	T	0.1	.	14.4788	0.67564	0.0:0.0:1.0:0.0	.	108;70	A6NMH8;P60033	.;CD81_HUMAN	T	70;65;59;62;108;63;76	ENSP00000263645:A70T;ENSP00000435633:A65T;ENSP00000433767:A59T;ENSP00000432497:A62T;ENSP00000370424:A108T;ENSP00000432249:A63T;ENSP00000432033:A76T	ENSP00000263645:A70T	A	+	1	0	CD81	2371927	0.996000	0.38824	0.967000	0.41034	0.868000	0.49771	3.235000	0.51328	2.079000	0.62486	0.462000	0.41574	GCT		PASS	0.652	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		5	27	5	27	---	---	---	---
OR52I2	143502	broad.mit.edu	37	11	4608225	4608225	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:4608225G>T	ENST00000312614.4	+	1	205	c.183G>T	c.(181-183)ctG>ctT	p.L61L		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L61L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATCTCACTGAGTGCCATGT	0.498																																						uc010qyh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(181-183)CTG>CTT		olfactory receptor, family 52, subfamily I,							238.0	233.0	235.0					11																	4608225		2201	4298	6499	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608225G>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.183G>T	11.37:g.4608225G>T							p.L61L	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	183	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	61			Helical; Name=1; (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.183G>T	CCDS31355.1																																																																																				PASS	0.498	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		7	133	7	133	---	---	---	---
OR52I2	143502	broad.mit.edu	37	11	4608295	4608295	+	Silent	SNP	C	C	A	rs140300674	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:4608295C>A	ENST00000312614.4	+	1	275	c.253C>A	c.(253-255)Cgg>Agg	p.R85R		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R85R(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATTCCACTCGGCATGAGCC	0.498																																						uc010qyh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(253-255)CGG>AGG		olfactory receptor, family 52, subfamily I,							235.0	222.0	226.0					11																	4608295		2201	4298	6499	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608295C>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.253C>A	11.37:g.4608295C>A							p.R85R	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	253	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	85			Helical; Name=2; (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.253C>A	CCDS31355.1																																																																																				PASS	0.498	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		6	135	6	135	---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5510553	5510553	+	Missense_Mutation	SNP	C	C	A	rs142747961	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:5510553C>A	ENST00000322641.5	+	1	639	c.617C>A	c.(616-618)gCt>gAt	p.A206D	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	206					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A206D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACTGTGGCTCTGCTGGCC	0.493																																						uc010qzg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(616-618)GCT>GAT		olfactory receptor, family 52, subfamily D,							292.0	251.0	265.0					11																	5510553		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510553C>A	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.617C>A	11.37:g.5510553C>A	ENSP00000326232:p.Ala206Asp					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.A206D	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	617	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	206			Helical; Name=5; (Potential).		B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.617C>A	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703961	0.68501	.	.	ENSG00000181609	ENST00000322641	T	0.39406	1.08	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.091921	0.47852	D	0.000211	T	0.71091	0.3299	H	0.95504	3.68	0.44295	D	0.997162	D	0.89917	1.0	D	0.97110	1.0	T	0.76950	-0.2769	10	0.72032	D	0.01	.	7.9641	0.30089	0.0:0.756:0.162:0.082	.	206	Q9H346	O52D1_HUMAN	D	206	ENSP00000326232:A206D	ENSP00000326232:A206D	A	+	2	0	OR52D1	5467129	0.000000	0.05858	0.997000	0.53966	0.985000	0.73830	1.052000	0.30429	2.906000	0.99361	0.655000	0.94253	GCT		PASS	0.493	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		20	102	20	102	---	---	---	---
DNHD1	144132	broad.mit.edu	37	11	6519958	6519958	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:6519958G>T	ENST00000527990.2	+	1	513	c.513G>T	c.(511-513)caG>caT	p.Q171H	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q171H|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q171H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	171					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.Q171H(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGGCCCAGTGGAGCAGGC	0.607																																						uc001mdw.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(511-513)CAG>CAT		dynein heavy chain domain 1 isoform 1							107.0	111.0	109.0					11																	6519958		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6519958G>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.513G>T	11.37:g.6519958G>T	ENSP00000436180:p.Gln171His					DNHD1_uc001mdp.2_Missense_Mutation_p.Q171H	p.Q171H	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	1077	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	171					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.513G>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	9.570	1.120834	0.20877	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28666	1.6;2.64;1.6	5.33	0.113	0.14631	.	1.103760	0.06881	N	0.802587	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P;P	0.40032	0.697;0.699	B;B	0.38020	0.137;0.263	T	0.22103	-1.0226	10	0.62326	D	0.03	.	5.6369	0.17542	0.3097:0.1384:0.5518:0.0	.	171;171	Q96M86;Q96M86-4	DNHD1_HUMAN;.	H	171	ENSP00000254579:Q171H;ENSP00000346716:Q171H;ENSP00000436180:Q171H	ENSP00000254579:Q171H	Q	+	3	2	DNHD1	6476534	0.000000	0.05858	0.071000	0.20095	0.331000	0.28603	-0.188000	0.09642	0.226000	0.20979	0.563000	0.77884	CAG		PASS	0.607	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		5	58	5	58	---	---	---	---
RRP8	23378	broad.mit.edu	37	11	6621950	6621950	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:6621950C>T	ENST00000254605.6	-	5	1220	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	RP11-732A19.8_ENST00000527191.1_RNA|RRP8_ENST00000534343.1_Missense_Mutation_p.G52E	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	368					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.G368E(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GATGTTGGTTCCCATCAGTGA	0.493																																						uc001med.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GGA>GAA		ribosomal RNA processing 8, methyltransferase,							110.0	108.0	108.0					11																	6621950		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6621950C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1103G>A	11.37:g.6621950C>T	ENSP00000254605:p.Gly368Glu						p.G368E	NM_015324	NP_056139	O43159	RRP8_HUMAN			5	1182	-			368					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.1103G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691865	0.88735	.	.	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.52526	1.01;0.66	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63985	-0.6513	10	0.87932	D	0	-18.4246	18.1469	0.89661	0.0:1.0:0.0:0.0	.	368	O43159	RRP8_HUMAN	E	368;52	ENSP00000254605:G368E;ENSP00000436960:G52E	ENSP00000254605:G368E	G	-	2	0	RRP8	6578526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.995000	0.76257	2.861000	0.98227	0.655000	0.94253	GGA		PASS	0.493	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		10	66	10	66	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6650040	6650040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:6650040G>T	ENST00000299441.3	-	13	5594	c.5183C>A	c.(5182-5184)tCa>tAa	p.S1728*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1728	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1728*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGGAGGTGAGCCCCTGTC	0.527																																						uc001mem.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5182-5184)TCA>TAA		dachsous 1 precursor							76.0	66.0	69.0					11																	6650040		2201	4296	6497	SO:0001587	stop_gained	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650040G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5183C>A	11.37:g.6650040G>T	ENSP00000299441:p.Ser1728*						p.S1728*	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	5593	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1728			Cadherin 16.|Extracellular (Potential).		O15098	Nonsense_Mutation	SNP	ENST00000299441.3	37	c.5183C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	44	11.097421	0.99515	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.64	3.72	0.42706	.	0.203930	0.24630	N	0.036896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	5.9385	0.19179	0.2419:0.0:0.7581:0.0	.	.	.	.	X	1728	.	ENSP00000299441:S1728X	S	-	2	0	DCHS1	6606616	0.750000	0.28316	0.656000	0.29637	0.173000	0.22820	1.488000	0.35551	1.157000	0.42530	0.563000	0.77884	TCA		PASS	0.527	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	7	4	7	---	---	---	---
STK33	65975	broad.mit.edu	37	11	8486319	8486319	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:8486319G>T	ENST00000447869.1	-	3	1308	c.390C>A	c.(388-390)gtC>gtA	p.V130V	STK33_ENST00000396672.1_Silent_p.V130V|STK33_ENST00000396673.1_Silent_p.V130V|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.V130V|STK33_ENST00000534493.1_Silent_p.V89V			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V130V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCGCTTCAATGACTATTCCAA	0.388																																						uc001mgi.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(388-390)GTC>GTA		serine/threonine kinase 33							267.0	228.0	241.0					11																	8486319		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8486319G>T	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.390C>A	11.37:g.8486319G>T						STK33_uc001mgj.1_Silent_p.V130V|STK33_uc001mgk.1_Silent_p.V130V|STK33_uc010rbn.1_Silent_p.V89V|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron	p.V130V	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	3	1309	-			130			Protein kinase.|ATP (By similarity).		Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.390C>A	CCDS7789.1																																																																																				PASS	0.388	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		7	111	7	111	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17333433	17333433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:17333433G>T	ENST00000529010.1	+	9	994	c.775G>T	c.(775-777)Gga>Tga	p.G259*	NUCB2_ENST00000323688.6_Nonsense_Mutation_p.G259*|NUCB2_ENST00000458064.2_Nonsense_Mutation_p.G259*	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	259	Binds to necdin. {ECO:0000250}.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.G259*(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAATAGTGATGGATTCCTGGA	0.264																																						uc001mmw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(775-777)GGA>TGA		nucleobindin 2 precursor							125.0	123.0	124.0					11																	17333433		1804	4051	5855	SO:0001587	stop_gained	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17333433G>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.775G>T	11.37:g.17333433G>T	ENSP00000436455:p.Gly259*					NUCB2_uc001mmv.1_Nonsense_Mutation_p.G259*|NUCB2_uc009ygz.2_Nonsense_Mutation_p.G259*	p.G259*	NM_005013	NP_005004	P80303	NUCB2_HUMAN			9	1020	+			259			1.|Binds to necdin (By similarity).|EF-hand 1.		A8K642|D3DQX5|Q8NFT5	Nonsense_Mutation	SNP	ENST00000529010.1	37	c.775G>T	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.734857|19.734857	0.99923|0.99923	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064|ENST00000527580	.|.	.|.	.|.	5.67|5.67	4.76|4.76	0.60689|0.60689	.|.	0.047998|.	0.85682|.	D|.	0.000000|.	.|T	.|0.61110	.|0.2321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69450	.|-0.5142	.|3	0.66056|.	D|.	0.02|.	-14.6154|-14.6154	11.5781|11.5781	0.50875|0.50875	0.0682:0.1247:0.8071:0.0|0.0682:0.1247:0.8071:0.0	.|.	.|.	.|.	.|.	X|L	259|66	.|.	ENSP00000320168:G259X|.	G|W	+|+	1|2	0|0	NUCB2|NUCB2	17290009|17290009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.616000|7.616000	0.83018|0.83018	1.416000|1.416000	0.47057|0.47057	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.264	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		10	227	10	227	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17554802	17554802	+	Splice_Site	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:17554802T>C	ENST00000318024.4	-	2	212	c.104A>G	c.(103-105)cAg>cGg	p.Q35R	USH1C_ENST00000527720.1_Splice_Site_p.Q4R|USH1C_ENST00000527020.1_Splice_Site_p.Q35R|USH1C_ENST00000005226.7_Splice_Site_p.Q35R	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	35	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.Q35R(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCACACTTACTGGTGGTACAT	0.502																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)CAG>CGG		harmonin isoform a							117.0	106.0	110.0					11																	17554802		2200	4293	6493	SO:0001630	splice_region_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17554802T>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.104+1A>G	11.37:g.17554802T>C						USH1C_uc001mne.2_Missense_Mutation_p.Q35R|USH1C_uc009yhb.2_Missense_Mutation_p.Q35R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR	p.Q35R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			2	213	-			35					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.104A>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214228	0.58452	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.28255	1.71;1.62;1.93;1.68;2.11	5.07	5.07	0.68467	.	0.056275	0.64402	D	0.000001	T	0.24314	0.0589	L	0.32530	0.975	0.80722	D	1	B;B;B	0.27117	0.001;0.168;0.0	B;B;B	0.27796	0.005;0.083;0.001	T	0.04915	-1.0918	9	.	.	.	.	13.806	0.63233	0.0:0.0:0.0:1.0	.	35;35;35	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	R	35;4;35;35;46	ENSP00000317018:Q35R;ENSP00000432944:Q4R;ENSP00000436934:Q35R;ENSP00000005226:Q35R;ENSP00000437128:Q46R	.	Q	-	2	0	USH1C	17511378	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.004000	0.76317	1.900000	0.55004	0.402000	0.26972	CAG		PASS	0.502	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	Missense_Mutation	4	23	4	23	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21592429	21592429	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:21592429C>A	ENST00000357134.5	+	18	2252	c.2100C>A	c.(2098-2100)caC>caA	p.H700Q	NELL1_ENST00000532434.1_Missense_Mutation_p.H653Q|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.H643Q|NELL1_ENST00000298925.5_Missense_Mutation_p.H728Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	700	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.H700Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAAATGGTCACAAGCTGTATC	0.463																																						uc001mqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2098-2100)CAC>CAA		nel-like 1 isoform 1 precursor							198.0	182.0	187.0					11																	21592429		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592429C>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2100C>A	11.37:g.21592429C>A	ENSP00000349654:p.His700Gln					NELL1_uc001mqf.2_Missense_Mutation_p.H653Q|NELL1_uc009yid.2_Missense_Mutation_p.H728Q|NELL1_uc010rdo.1_Missense_Mutation_p.H643Q|NELL1_uc010rdp.1_Missense_Mutation_p.H413Q|NELL1_uc001mqh.2_Missense_Mutation_p.H245Q	p.H700Q	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2253	+			700			VWFC 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2100C>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418750	0.42918	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.16	2.21	0.28008	von Willebrand factor, type C (3);	0.117201	0.64402	N	0.000017	T	0.42245	0.1194	N	0.25094	0.71	0.32917	D	0.515319	B;B;B;B;B	0.18461	0.0;0.001;0.028;0.0;0.0	B;B;B;B;B	0.18263	0.002;0.008;0.021;0.002;0.003	T	0.41088	-0.9528	10	0.23891	T	0.37	-14.7475	7.9075	0.29771	0.0:0.6867:0.12:0.1933	.	643;728;245;653;700	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	Q	728;700;643;653	ENSP00000298925:H728Q;ENSP00000349654:H700Q;ENSP00000317837:H643Q;ENSP00000437170:H653Q	ENSP00000298925:H728Q	H	+	3	2	NELL1	21549005	0.815000	0.29118	1.000000	0.80357	0.996000	0.88848	-0.055000	0.11807	0.465000	0.27167	0.650000	0.86243	CAC		PASS	0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		6	116	6	116	---	---	---	---
FANCF	2188	broad.mit.edu	37	11	22646316	22646316	+	Missense_Mutation	SNP	C	C	A	rs587778343		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:22646316C>A	ENST00000327470.3	-	1	1071	c.1041G>T	c.(1039-1041)tgG>tgT	p.W347C	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	347					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.W347C(2)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						AGAGGTCTGTCCAGATGCTAA	0.468			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mql.1			yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1039-1041)TGG>TGT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F							145.0	141.0	142.0					11																	22646316		2203	4300	6503	SO:0001583	missense	2188	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646316C>A		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.1041G>T	11.37:g.22646316C>A	ENSP00000330875:p.Trp347Cys		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.W347C	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	1072	-			347					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.1041G>T	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778820	0.70107	.	.	ENSG00000183161	ENST00000327470	T	0.65916	-0.18	5.41	5.41	0.78517	.	0.000000	0.85682	U	0.000000	T	0.77665	0.4164	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78828	-0.2050	10	0.87932	D	0	-11.3801	17.5629	0.87912	0.0:1.0:0.0:0.0	.	347	Q9NPI8	FANCF_HUMAN	C	347	ENSP00000330875:W347C	ENSP00000330875:W347C	W	-	3	0	FANCF	22602892	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.514000	0.60482	2.816000	0.96949	0.561000	0.74099	TGG		PASS	0.468	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		11	110	11	110	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26718757	26718757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:26718757C>A	ENST00000396005.3	-	8	1303	c.994G>T	c.(994-996)Gga>Tga	p.G332*	SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.G332*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	332					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G332*(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCTGGCAGTCCTGGCATTGTG	0.383																																						uc001mra.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(994-996)GGA>TGA		solute carrier family 5 (sodium/glucose							156.0	146.0	150.0					11																	26718757		2203	4299	6502	SO:0001587	stop_gained	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26718757C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.994G>T	11.37:g.26718757C>A	ENSP00000379326:p.Gly332*					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.G332*	p.G332*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			8	1307	-			332			Helical; (Potential).		Q86UC7	Nonsense_Mutation	SNP	ENST00000396005.3	37	c.994G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	38	7.144052	0.98092	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	.	.	.	X	332;332;144	.	ENSP00000280467:G332X	G	-	1	0	SLC5A12	26675333	1.000000	0.71417	0.980000	0.43619	0.927000	0.56198	7.635000	0.83286	2.834000	0.97654	0.650000	0.86243	GGA		PASS	0.383	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		7	112	7	112	---	---	---	---
EIF3M	10480	broad.mit.edu	37	11	32616471	32616471	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:32616471G>T	ENST00000531120.1	+	7	692	c.629G>T	c.(628-630)cGa>cTa	p.R210L	EIF3M_ENST00000524896.1_Missense_Mutation_p.R78L	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M									p.R210L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGTATTGTACGAGCATTGAAA	0.328																																						uc001mtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(628-630)CGA>CTA		eukaryotic translation initiation factor 3,							182.0	173.0	176.0					11																	32616471		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32616471G>T	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.629G>T	11.37:g.32616471G>T	ENSP00000436049:p.Arg210Leu					EIF3M_uc010ref.1_Missense_Mutation_p.R78L	p.R210L	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			7	672	+	Breast(20;0.109)		210	RA -> EP (in Ref. 2; AAC17108).					Missense_Mutation	SNP	ENST00000531120.1	37	c.629G>T	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950745	0.73787	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T	0.44482	1.52;0.93;0.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.36672	1.1	0.80722	D	1	B;B	0.29646	0.043;0.253	B;B	0.26094	0.039;0.066	T	0.06023	-1.0850	10	0.28530	T	0.3	-12.6646	20.8794	0.99867	0.0:0.0:1.0:0.0	.	78;210	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	L	210;78;147;51	ENSP00000436049:R210L;ENSP00000436787:R78L;ENSP00000432139:R51L	ENSP00000319910:R147L	R	+	2	0	EIF3M	32573047	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.328	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		5	85	5	85	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32697516	32697516	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:32697516G>T	ENST00000335185.5	-	8	524	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	161								p.L161M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATTTCACTCAGTTGCTTATGA	0.308																																						uc001mtv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(481-483)CTG>ATG		sarcoma antigen NY-SAR-79							164.0	157.0	159.0					11																	32697516		1847	4075	5922	SO:0001583	missense	493860							g.chr11:32697516G>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.481C>A	11.37:g.32697516G>T	ENSP00000335325:p.Leu161Met					CCDC73_uc001mtw.1_Missense_Mutation_p.L161M	p.L161M	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			8	525	-	Breast(20;0.112)		161			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.481C>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525159	0.64747	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	0.8	0.18672	.	.	.	.	.	T	0.66096	0.2755	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.72075	0.9;0.976	T	0.63337	-0.6660	8	0.72032	D	0.01	.	6.6071	0.22731	0.264:0.1195:0.6164:0.0	.	161;161	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	M	161	.	ENSP00000335325:L161M	L	-	1	2	CCDC73	32654092	1.000000	0.71417	0.960000	0.40013	0.986000	0.74619	1.112000	0.31172	0.104000	0.17725	0.585000	0.79938	CTG		PASS	0.308	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		6	125	6	125	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32997982	32997982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:32997982G>T	ENST00000399302.2	+	13	5505	c.5170G>T	c.(5170-5172)Gga>Tga	p.G1724*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.G1485*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1724								p.G1724*(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGAAAAATTTGGAGAACTTCT	0.353																																						uc001mty.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(5170-5172)GGA>TGA		glutamine and serine rich 1							96.0	94.0	94.0					11																	32997982		1817	4065	5882	SO:0001587	stop_gained	79832							g.chr11:32997982G>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5170G>T	11.37:g.32997982G>T	ENSP00000382241:p.Gly1724*					QSER1_uc001mtz.1_Nonsense_Mutation_p.G1485*	p.G1724*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			13	5437	+	Breast(20;0.158)		1724					Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	c.5170G>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	45	11.565356	0.99576	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	.	.	.	5.78	5.78	0.91487	.	0.000000	0.32836	U	0.005585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	.	.	.	X	1724;1485	.	ENSP00000382241:G1724X	G	+	1	0	QSER1	32954558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.578000	0.90777	2.744000	0.94065	0.563000	0.77884	GGA		PASS	0.353	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		20	68	20	68	---	---	---	---
API5	8539	broad.mit.edu	37	11	43348096	43348096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:43348096G>T	ENST00000531273.1	+	7	929	c.790G>T	c.(790-792)Gag>Tag	p.E264*	API5_ENST00000455725.2_Nonsense_Mutation_p.E253*|API5_ENST00000378852.3_Nonsense_Mutation_p.E264*|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Nonsense_Mutation_p.E264*|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Nonsense_Mutation_p.E210*			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	264	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.E264*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ATATTTCTGTGAGCAGGTTCT	0.388																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(790-792)GAG>TAG		apoptosis inhibitor 5 isoform a							129.0	132.0	131.0					11																	43348096		2203	4300	6503	SO:0001587	stop_gained	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43348096G>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.790G>T	11.37:g.43348096G>T	ENSP00000431391:p.Glu264*					API5_uc010rfg.1_Nonsense_Mutation_p.E253*|API5_uc001mxf.2_Nonsense_Mutation_p.E264*|API5_uc010rfi.1_Nonsense_Mutation_p.E210*|API5_uc001mxg.2_Nonsense_Mutation_p.E138*	p.E264*	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			7	963	+			264					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Nonsense_Mutation	SNP	ENST00000531273.1	37	c.790G>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876700	0.97904	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	.	.	.	5.99	5.99	0.97316	.	0.046948	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-31.2591	20.0881	0.97803	0.0:0.0:1.0:0.0	.	.	.	.	X	253;264;210;264;264	.	ENSP00000368129:E264X	E	+	1	0	API5	43304672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.876000	0.87215	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.388	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		8	186	8	186	---	---	---	---
ALKBH3	221120	broad.mit.edu	37	11	43923276	43923276	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:43923276G>T	ENST00000302708.4	+	8	1080		c.e8+1		ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)	p.?(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GCCACCACCAGTGAGTATTCT	0.433								Direct reversal of damage																														uc001mxs.2																			1	Unknown(1)		lung(1)		0						c.e8+1	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						86.0	82.0	83.0					11																	43923276		2203	4300	6503	SO:0001630	splice_region_variant	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43923276G>T	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.669+1G>T	11.37:g.43923276G>T						ALKBH3_uc009ykp.2_Splice_Site|ALKBH3_uc001mxt.2_Splice_Site|ALKBH3_uc009ykq.2_Splice_Site_p.P76_splice	p.P223_splice	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			8	1112	+								A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Splice_Site	SNP	ENST00000302708.4	37	c.669_splice	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408549	0.83340	.	.	ENSG00000166199	ENST00000302708;ENST00000529366;ENST00000532129	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7612	0.91851	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALKBH3	43879852	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.366000	0.79548	2.677000	0.91161	0.655000	0.94253	.		PASS	0.433	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178	Intron	7	76	7	76	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44098922	44098922	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:44098922G>T	ENST00000263776.8	+	7	1084	c.650G>T	c.(649-651)aGt>aTt	p.S217I	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	217					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.S217I(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TACCTGGACAGTGAGGTAAGA	0.562																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(649-651)AGT>ATT		1-aminocyclopropane-1-carboxylate synthase							123.0	112.0	116.0					11																	44098922		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44098922G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.650G>T	11.37:g.44098922G>T	ENSP00000263776:p.Ser217Ile					EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Missense_Mutation_p.Q129H|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.S217I	p.S217I	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			7	794	+			217					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.650G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541073	0.65085	.	.	ENSG00000110455	ENST00000263776	D	0.91577	-2.87	4.88	4.88	0.63580	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095809	0.64402	D	0.000001	D	0.96194	0.8759	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97148	0.9829	10	0.87932	D	0	-10.9854	15.8163	0.78604	0.0:0.0:1.0:0.0	.	217	Q96QU6	1A1L1_HUMAN	I	217	ENSP00000263776:S217I	ENSP00000263776:S217I	S	+	2	0	ACCS	44055498	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	7.487000	0.81328	2.264000	0.75181	0.557000	0.71058	AGT		PASS	0.562	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		5	63	5	63	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136162	55136162	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:55136162G>C	ENST00000314706.3	+	1	803	c.803G>C	c.(802-804)tGt>tCt	p.C268S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C268S(1)|p.C268F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCTACACCTGTGCATCCCAC	0.423																																						uc010rif.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(802-804)TGT>TCT		olfactory receptor, family 4, subfamily A,							219.0	199.0	206.0					11																	55136162		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136162G>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.803G>C	11.37:g.55136162G>C	ENSP00000325065:p.Cys268Ser						p.C268S	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	803	+			268			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.803G>C	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	27.6	4.843370	0.91197	.	.	ENSG00000181958	ENST00000314706	T	0.00369	7.74	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.01730	0.0055	H	0.97732	4.065	0.44834	D	0.997848	D	0.89917	1.0	D	0.85130	0.997	T	0.18493	-1.0335	10	0.72032	D	0.01	.	12.9163	0.58207	0.0:0.0:1.0:0.0	.	268	Q8NGL6	O4A15_HUMAN	S	268	ENSP00000325065:C268S	ENSP00000325065:C268S	C	+	2	0	OR4A15	54892738	1.000000	0.71417	0.040000	0.18447	0.887000	0.51463	6.296000	0.72751	1.871000	0.54225	0.492000	0.49549	TGT		PASS	0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		12	81	12	81	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890145	55890145	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:55890145C>A	ENST00000313472.3	+	1	297	c.297C>A	c.(295-297)gcC>gcA	p.A99A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCTGCTTTGCCCAGATGTTCT	0.443																																						uc001nii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(295-297)GCC>GCA		olfactory receptor, family 8, subfamily H,							328.0	317.0	321.0					11																	55890145		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890145C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.297C>A	11.37:g.55890145C>A							p.A99A	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	297	+	Esophageal squamous(21;0.00693)		99			Extracellular (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.297C>A	CCDS31519.1																																																																																				PASS	0.443	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		17	202	17	202	---	---	---	---
GLYATL1	92292	broad.mit.edu	37	11	58722700	58722700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:58722700C>A	ENST00000317391.4	+	7	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	GLYATL1_ENST00000300079.5_Nonsense_Mutation_p.S153*|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	122						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.S153*(1)|p.S122*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TTTTCAAAGTCAGTGAAAGTA	0.448																																						uc001nnf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(364-366)TCA>TAA		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						115.0	114.0	115.0					11																	58722700		2201	4295	6496	SO:0001587	stop_gained	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722700C>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.365C>A	11.37:g.58722700C>A	ENSP00000322223:p.Ser122*					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Nonsense_Mutation_p.S153*|GLYATL1_uc001nni.1_Nonsense_Mutation_p.S122*|GLYATL1_uc001nnj.1_Nonsense_Mutation_p.S122*	p.S122*			Q969I3	GLYL1_HUMAN			7	741	+			122					A6NDT0|Q7Z510|Q8NAW8	Nonsense_Mutation	SNP	ENST00000317391.4	37	c.365C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.862079	0.51482	.	.	ENSG00000166840	ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079	.	.	.	1.78	-0.212	0.13169	.	1.389100	0.04953	U	0.460660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.7192	0.12910	0.0:0.6926:0.0:0.3074	.	.	.	.	X	145;99;122;153	.	ENSP00000300079:S153X	S	+	2	0	GLYATL1	58479276	0.129000	0.22400	0.001000	0.08648	0.036000	0.12997	0.205000	0.17356	-0.504000	0.06577	0.411000	0.27672	TCA		PASS	0.448	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		7	113	7	113	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61070621	61070621	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:61070621G>T	ENST00000301764.7	-	23	3236	c.2839C>A	c.(2839-2841)Cga>Aga	p.R947R	DDB1_ENST00000450997.2_Silent_p.R258R|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000538470.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.R947R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTAAAGTCTCGAGCAATCTTA	0.418								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2839-2841)CGA>AGA	NER	damage-specific DNA binding protein 1							114.0	108.0	110.0					11																	61070621		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070621G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2839C>A	11.37:g.61070621G>T						DDB1_uc010rle.1_Silent_p.R258R|DDB1_uc010rlf.1_Silent_p.R947R	p.R947R	NM_001923	NP_001914	Q16531	DDB1_HUMAN			23	3065	-			947			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.2839C>A	CCDS31576.1																																																																																				PASS	0.418	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		7	101	7	101	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65266456	65266456	+	lincRNA	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:65266456G>T	ENST00000534336.1	+	0	1224				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAAGGTGATCGAATTCCGGTG	0.498																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							139.0	140.0	140.0					11																	65266456		874	1988	2862			378938							g.chr11:65266456G>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266456G>T								NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.1224G>T																																																																																					PASS	0.498	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	111	6	111	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	66006656	66006656	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:66006656C>A	ENST00000320580.4	+	21	2370	c.2337C>A	c.(2335-2337)tcC>tcA	p.S779S	PACS1_ENST00000529757.1_Silent_p.S315S|PACS1_ENST00000524815.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	779					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.S779S(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGTGCCCTCCACATCACCAC	0.617																																						uc001oha.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(2335-2337)TCC>TCA		phosphofurin acidic cluster sorting protein 1							137.0	116.0	123.0					11																	66006656		2200	4295	6495	SO:0001819	synonymous_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66006656C>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2337C>A	11.37:g.66006656C>A						PACS1_uc010rou.1_Silent_p.S315S	p.S779S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			21	2471	+			779					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Silent	SNP	ENST00000320580.4	37	c.2337C>A	CCDS8129.1																																																																																				PASS	0.617	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		5	31	5	31	---	---	---	---
TBX10	347853	broad.mit.edu	37	11	67400523	67400523	+	Missense_Mutation	SNP	C	C	A	rs376880264		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:67400523C>A	ENST00000335385.3	-	5	688	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	201				FV -> LL (in Ref. 3; AAC23481). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V201L(1)		endometrium(2)|lung(4)|ovary(1)	7						CGTGGGTCCACGAAGACCACG	0.562																																						uc001omp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GTG>TTG		T-box 10							281.0	254.0	263.0					11																	67400523		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67400523C>A	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.601G>T	11.37:g.67400523C>A	ENSP00000335191:p.Val201Leu						p.V201L	NM_005995	NP_005986	O75333	TBX10_HUMAN			5	689	-			201	FV -> LL (in Ref. 3; AAC23481).		T-box.		Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.601G>T	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594170	0.46214	.	.	ENSG00000167800	ENST00000335385	D	0.89617	-2.54	4.11	2.2	0.27929	p53-like transcription factor, DNA-binding (1);	0.094712	0.41097	D	0.000945	D	0.83078	0.5176	L	0.31752	0.955	0.45354	D	0.998344	B	0.26147	0.143	B	0.36766	0.232	T	0.74231	-0.3732	10	0.34782	T	0.22	.	9.2232	0.37390	0.0:0.8142:0.0:0.1858	.	201	O75333	TBX10_HUMAN	L	201	ENSP00000335191:V201L	ENSP00000335191:V201L	V	-	1	0	TBX10	67157099	0.995000	0.38212	0.999000	0.59377	0.996000	0.88848	3.802000	0.55553	0.382000	0.24878	0.561000	0.74099	GTG		PASS	0.562	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		5	90	5	90	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68822717	68822717	+	Missense_Mutation	SNP	C	C	A	rs372815048		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:68822717C>A	ENST00000294309.3	+	4	427	c.326C>A	c.(325-327)gCg>gAg	p.A109E	TPCN2_ENST00000542467.1_Missense_Mutation_p.A109E|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	109					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.A109E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCAGCACGGCGGACGTGCGC	0.587																																						uc001oos.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GCG>GAG		two pore segment channel 2							157.0	142.0	147.0					11																	68822717		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822717C>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.326C>A	11.37:g.68822717C>A	ENSP00000294309:p.Ala109Glu					TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.A109E	p.A109E	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	442	+			109			Extracellular (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.326C>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690785	0.48097	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97114	-4.25;-4.25	4.96	4.05	0.47172	.	0.312729	0.31312	N	0.007880	D	0.93690	0.7984	L	0.40543	1.245	0.35392	D	0.790866	P;P	0.49961	0.93;0.93	B;B	0.40825	0.341;0.268	D	0.93669	0.6988	10	0.23302	T	0.38	-4.4802	13.0206	0.58784	0.0:0.9205:0.0:0.0795	.	109;109	E7ETX0;Q8NHX9	.;TPC2_HUMAN	E	39;109;109	ENSP00000294309:A109E;ENSP00000445551:A109E	ENSP00000294309:A109E	A	+	2	0	TPCN2	68579293	0.721000	0.28007	0.005000	0.12908	0.013000	0.08279	4.804000	0.62554	1.229000	0.43630	0.561000	0.74099	GCG		PASS	0.587	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		18	46	18	46	---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72695219	72695219	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:72695219C>A	ENST00000409418.4	-	8	1002	c.619G>T	c.(619-621)Gca>Tca	p.A207S	FCHSD2_ENST00000458644.2_Missense_Mutation_p.A47S|FCHSD2_ENST00000311172.7_Missense_Mutation_p.A151S|FCHSD2_ENST00000409853.1_Missense_Mutation_p.A151S|FCHSD2_ENST00000409314.1_Missense_Mutation_p.A207S	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	207								p.A207S(1)|p.A151S(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCATTCCTTGCGTGGGTAGCT	0.373																																						uc009ytl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(619-621)GCA>TCA		FCH and double SH3 domains 2							114.0	110.0	111.0					11																	72695219		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72695219C>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.619G>T	11.37:g.72695219C>A	ENSP00000386722:p.Ala207Ser					FCHSD2_uc010rrg.1_Missense_Mutation_p.A47S|FCHSD2_uc001oth.3_Missense_Mutation_p.A151S|FCHSD2_uc001oti.2_Missense_Mutation_p.A166S	p.A207S	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		8	840	-			207					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.619G>T	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754334	0.89843	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.63	5.63	0.86233	.	0.050500	0.85682	D	0.000000	T	0.21962	0.0529	L	0.41236	1.265	0.58432	D	0.999999	P;P;P	0.44578	0.838;0.668;0.776	B;B;B	0.40375	0.327;0.069;0.146	T	0.00872	-1.1532	10	0.37606	T	0.19	-24.204	18.6654	0.91488	0.0:1.0:0.0:0.0	.	47;207;151	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	S	151;207;207;47;151	ENSP00000308978:A151S;ENSP00000386987:A207S;ENSP00000386722:A207S;ENSP00000402972:A47S;ENSP00000386314:A151S	ENSP00000308978:A151S	A	-	1	0	FCHSD2	72372867	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	4.499000	0.60380	2.653000	0.90120	0.557000	0.71058	GCA		PASS	0.373	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		16	51	16	51	---	---	---	---
P2RY6	5031	broad.mit.edu	37	11	73007627	73007627	+	Nonsense_Mutation	SNP	G	G	T	rs61745521		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:73007627G>T	ENST00000393590.2	+	2	363	c.64G>T	c.(64-66)Gag>Tag	p.E22*	P2RY6_ENST00000540124.1_Nonsense_Mutation_p.E22*|P2RY6_ENST00000542092.1_Nonsense_Mutation_p.E22*|P2RY6_ENST00000538328.1_Nonsense_Mutation_p.E22*|P2RY6_ENST00000393591.1_Nonsense_Mutation_p.E22*|P2RY6_ENST00000349767.2_Nonsense_Mutation_p.E22*|P2RY6_ENST00000393592.2_Nonsense_Mutation_p.E22*|P2RY6_ENST00000540342.1_Nonsense_Mutation_p.E22*	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	22					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)	p.E22*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						TGTCTACCGCGAGAACTTCAA	0.607																																						uc001otm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(64-66)GAG>TAG		pyrimidinergic receptor P2Y6							116.0	124.0	122.0					11																	73007627		2200	4293	6493	SO:0001587	stop_gained	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007627G>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.64G>T	11.37:g.73007627G>T	ENSP00000377215:p.Glu22*					P2RY6_uc001otn.2_Nonsense_Mutation_p.E22*|P2RY6_uc001oto.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otp.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otq.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otr.2_Nonsense_Mutation_p.E22*|P2RY6_uc001ots.2_Nonsense_Mutation_p.E22*	p.E22*	NM_176796	NP_789766	Q15077	P2RY6_HUMAN			4	469	+			22			Extracellular (Potential).		Q15754	Nonsense_Mutation	SNP	ENST00000393590.2	37	c.64G>T	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870791	0.72065	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.265	0.82571	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000309771:E22X	E	+	1	0	P2RY6	72685275	1.000000	0.71417	0.903000	0.35520	0.381000	0.30169	9.590000	0.98238	2.367000	0.80283	0.491000	0.48974	GAG		PASS	0.607	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			5	83	5	83	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75442295	75442295	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:75442295C>G	ENST00000198801.5	+	6	1039	c.969C>G	c.(967-969)ttC>ttG	p.F323L	MOGAT2_ENST00000526712.1_Missense_Mutation_p.F241L	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	323					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.F323L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AACTTAAGTTCAACATCCCTG	0.552																																						uc010rru.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(967-969)TTC>TTG		monoacylglycerol O-acyltransferase 2							110.0	96.0	101.0					11																	75442295		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442295C>G	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.969C>G	11.37:g.75442295C>G	ENSP00000198801:p.Phe323Leu					MOGAT2_uc010rrv.1_Missense_Mutation_p.F241L	p.F323L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			6	969	+	Ovarian(111;0.103)		323					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.969C>G	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398337	0.62177	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14893	2.47;2.47	6.17	6.17	0.99709	.	0.168279	0.56097	D	0.000040	T	0.22475	0.0542	L	0.52206	1.635	0.32512	N	0.537447	B	0.29341	0.242	B	0.36766	0.232	T	0.17592	-1.0364	10	0.66056	D	0.02	-3.3067	13.6506	0.62308	0.0:0.9262:0.0:0.0738	.	323	Q3SYC2	MOGT2_HUMAN	L	323;241	ENSP00000198801:F323L;ENSP00000436283:F241L	ENSP00000198801:F323L	F	+	3	2	MOGAT2	75119943	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.239000	0.32719	2.941000	0.99782	0.655000	0.94253	TTC		PASS	0.552	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		3	42	3	42	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76969502	76969502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:76969502C>A	ENST00000376217.2	-	10	1043	c.793G>T	c.(793-795)Gag>Tag	p.E265*	GDPD4_ENST00000315938.4_Nonsense_Mutation_p.E265*			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	265	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.E265*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GCAGGGTTCTCGCAGGCAGAT	0.458																																						uc001oyf.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(793-795)GAG>TAG		glycerophosphodiester phosphodiesterase domain							170.0	164.0	166.0					11																	76969502		2200	4292	6492	SO:0001587	stop_gained	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76969502C>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.793G>T	11.37:g.76969502C>A	ENSP00000365390:p.Glu265*						p.E265*	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			10	1044	-			265			GDPD.|Extracellular (Potential).		Q7Z5B0	Nonsense_Mutation	SNP	ENST00000376217.2	37	c.793G>T		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876118	0.72180	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	.	.	.	4.73	-7.54	0.01332	.	2.416490	0.01025	N	0.004048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	4.0255	0.4116	0.00442	0.2504:0.2638:0.2557:0.2301	.	.	.	.	X	265	.	ENSP00000320815:E265X	E	-	1	0	GDPD4	76647150	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.598000	0.00419	-1.019000	0.03358	-1.402000	0.01139	GAG		PASS	0.458	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		7	135	7	135	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911731	88911731	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:88911731G>A	ENST00000263321.5	+	1	1112	c.610G>A	c.(610-612)Gca>Aca	p.A204T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	204					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A204T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGCCCATGAAGCACCAGCTTT	0.428																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(610-612)GCA>ACA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						171.0	164.0	167.0					11																	88911731		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911731G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.610G>A	11.37:g.88911731G>A	ENSP00000263321:p.Ala204Thr						p.A204T	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	692	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	204			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.610G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483887	0.84854	.	.	ENSG00000077498	ENST00000263321	D	0.98732	-5.1	6.07	6.07	0.98685	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.093129	0.64402	D	0.000001	D	0.98905	0.9629	L	0.56769	1.78	0.50171	D	0.999855	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	204	P14679	TYRO_HUMAN	T	204	ENSP00000263321:A204T	.	A	+	1	0	TYR	88551379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.119000	0.57891	2.885000	0.99019	0.655000	0.94253	GCA		PASS	0.428	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		23	87	23	87	---	---	---	---
ANKRD49	54851	broad.mit.edu	37	11	94230054	94230054	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:94230054G>T	ENST00000544612.1	+	2	692	c.195G>T	c.(193-195)ttG>ttT	p.L65F	ANKRD49_ENST00000544253.1_Missense_Mutation_p.L65F|MRE11A_ENST00000323929.3_5'Flank|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L65F|ANKRD49_ENST00000540349.1_Missense_Mutation_p.L65F	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	65					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.L65F(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTATCGATTGCAAGAAAAAA	0.388																																					Melanoma(113;823 1621 4352 9582 22033)	uc001pew.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(193-195)TTG>TTT		fetal globin inducing factor							79.0	86.0	84.0					11																	94230054		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230054G>T	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.195G>T	11.37:g.94230054G>T	ENSP00000440396:p.Leu65Phe					ANKRD49_uc001pex.2_Missense_Mutation_p.L65F|ANKRD49_uc001pey.2_5'Flank	p.L65F	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN			2	334	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	65					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.195G>T	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	G	1.326	-0.598189	0.03744	.	.	ENSG00000168876	ENST00000544612;ENST00000540349;ENST00000545130;ENST00000544253;ENST00000541144;ENST00000302755	T;T	0.45668	0.89;0.89	5.58	-2.11	0.07187	.	0.729118	0.13739	N	0.366141	T	0.29028	0.0721	L	0.51422	1.61	0.21386	N	0.99971	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.0	T	0.28170	-1.0052	10	0.62326	D	0.03	-0.5121	1.8528	0.03172	0.3824:0.2154:0.292:0.1102	.	65;65	F6R851;Q8WVL7	.;ANR49_HUMAN	F	65	ENSP00000440396:L65F;ENSP00000303518:L65F	ENSP00000303518:L65F	L	+	3	2	ANKRD49	93869702	0.999000	0.42202	0.413000	0.26509	0.184000	0.23303	1.398000	0.34554	-0.444000	0.07170	-0.274000	0.10170	TTG		PASS	0.388	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		18	80	18	80	---	---	---	---
AMOTL1	154810	broad.mit.edu	37	11	94563321	94563321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:94563321G>T	ENST00000433060.2	+	5	1660	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.E457*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	507					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.E507*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATTGGAAGGCGAGATTAGAAG	0.418																																						uc001pfb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1519-1521)GAG>TAG		angiomotin like 1							79.0	77.0	77.0					11																	94563321		1871	4114	5985	SO:0001587	stop_gained	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94563321G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1519G>T	11.37:g.94563321G>T	ENSP00000387739:p.Glu507*					AMOTL1_uc001pfc.2_Nonsense_Mutation_p.E457*	p.E507*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			5	1689	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	507			Potential.		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Nonsense_Mutation	SNP	ENST00000433060.2	37	c.1519G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	39	7.312851	0.98203	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.6802	19.9983	0.97395	0.0:0.0:1.0:0.0	.	.	.	.	X	457;513;507	.	ENSP00000320968:E457X	E	+	1	0	AMOTL1	94202969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.724000	0.93272	0.561000	0.74099	GAG		PASS	0.418	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		4	29	4	29	---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95580966	95580966	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:95580966C>A	ENST00000346299.5	-	10	1431	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000352297.7_Missense_Mutation_p.R292L|MTMR2_ENST00000393223.3_Missense_Mutation_p.R292L|MTMR2_ENST00000409459.1_Missense_Mutation_p.R292L	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	364	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R364L(1)|p.R292L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTAAGTTTTCGTAATGATTC	0.398																																						uc001pfu.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1090-1092)CGA>CTA		myotubularin-related protein 2 isoform 1							147.0	139.0	142.0					11																	95580966		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95580966C>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1091G>T	11.37:g.95580966C>A	ENSP00000345752:p.Arg364Leu					MTMR2_uc001pfv.2_Missense_Mutation_p.R292L|MTMR2_uc001pfs.2_Missense_Mutation_p.R292L|MTMR2_uc001pft.2_Missense_Mutation_p.R292L|MTMR2_uc010ruj.1_Missense_Mutation_p.R347L	p.R364L	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			10	1344	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	364			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1091G>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962620	0.53400	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12	5.65	5.65	0.86999	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.71920	2.185	0.80722	D	1	P;D	0.59357	0.795;0.985	B;P	0.52031	0.208;0.688	D	0.94338	0.7568	10	0.62326	D	0.03	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	364;364	A8K5G2;Q13614	.;MTMR2_HUMAN	L	364;292;292;292;292	ENSP00000345752:R364L;ENSP00000376915:R292L;ENSP00000386882:R292L;ENSP00000343737:R292L;ENSP00000396020:R292L	ENSP00000345752:R364L	R	-	2	0	MTMR2	95220614	1.000000	0.71417	0.308000	0.25141	0.266000	0.26442	6.028000	0.70889	2.668000	0.90789	0.655000	0.94253	CGA		PASS	0.398	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		5	84	5	84	---	---	---	---
BIRC2	329	broad.mit.edu	37	11	102221671	102221671	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:102221671C>A	ENST00000227758.2	+	3	2391	c.992C>A	c.(991-993)cCa>cAa	p.P331Q	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.P282Q|BIRC2_ENST00000532672.1_Missense_Mutation_p.P310Q	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	331					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P331Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAGTGGTTTCCAAGGTAATTG	0.373																																						uc001pgy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(991-993)CCA>CAA		baculoviral IAP repeat-containing protein 2							269.0	255.0	259.0					11																	102221671		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102221671C>A	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.992C>A	11.37:g.102221671C>A	ENSP00000227758:p.Pro331Gln					BIRC2_uc010ruq.1_Missense_Mutation_p.P282Q|BIRC2_uc010rur.1_Missense_Mutation_p.P331Q	p.P331Q	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	2391	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	331			BIR 3.		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.992C>A	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728437	0.89390	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.06528	3.29;3.29;3.29	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55205	-0.8177	10	0.87932	D	0	-33.2712	20.2019	0.98263	0.0:1.0:0.0:0.0	.	331	Q13490	BIRC2_HUMAN	Q	282;331;331;310	ENSP00000431723:P282Q;ENSP00000227758:P331Q;ENSP00000434979:P310Q	ENSP00000227758:P331Q	P	+	2	0	BIRC2	101726881	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.776000	0.95493	0.655000	0.94253	CCA		PASS	0.373	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		8	157	8	157	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102592222	102592222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:102592222C>A	ENST00000236826.3	-	4	630	c.532G>T	c.(532-534)Gga>Tga	p.G178*		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	178					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.G178*(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GCAAGGATTCCATTGGGTCCA	0.428																																						uc001phe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(532-534)GGA>TGA		matrix metalloproteinase 8 preproprotein							150.0	128.0	135.0					11																	102592222		2203	4299	6502	SO:0001587	stop_gained	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102592222C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.532G>T	11.37:g.102592222C>A	ENSP00000236826:p.Gly178*					MMP8_uc010rut.1_Nonsense_Mutation_p.G113*|MMP8_uc010ruu.1_Nonsense_Mutation_p.G155*	p.G178*	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	4	631	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	178					Q45F99	Nonsense_Mutation	SNP	ENST00000236826.3	37	c.532G>T	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.382464|4.382464	0.82792|0.82792	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942|ENST00000438475	.|.	.|.	.|.	5.75|5.75	4.84|4.84	0.62591|0.62591	.|.	0.243951|.	0.30528|.	N|.	0.009421|.	.|T	.|0.55800	.|0.1943	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63314	.|-0.6665	.|3	0.66056|.	D|.	0.02|.	.|.	11.4903|11.4903	0.50377|0.50377	0.0:0.8638:0.0:0.1362|0.0:0.8638:0.0:0.1362	.|.	.|.	.|.	.|.	X|L	178;155;113|153	.|.	ENSP00000236826:G178X|.	G|W	-|-	1|2	0|0	MMP8|MMP8	102097432|102097432	0.558000|0.558000	0.26554|0.26554	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.017000|3.017000	0.49615|0.49615	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.428	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		6	56	6	56	---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105961333	105961333	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:105961333C>A	ENST00000278618.4	+	3	681	c.459C>A	c.(457-459)acC>acA	p.T153T	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	153					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.T153T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GAAAGTTTACCAACAAAGAAT	0.289																																						uc001pjc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)ACC>ACA		aminoadipate-semialdehyde							95.0	109.0	104.0					11																	105961333		2201	4297	6498	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105961333C>A	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.459C>A	11.37:g.105961333C>A						AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Silent_p.T6T	p.T153T	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	3	605	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	153					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.459C>A	CCDS31664.1																																																																																				PASS	0.289	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		8	174	8	174	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107288944	107288944	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:107288944G>A	ENST00000282251.5	-	9	1530	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	CWF19L2_ENST00000433523.1_Silent_p.I501I	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	501							catalytic activity (GO:0003824)	p.I347M(1)|p.I347I(1)|p.I501I(1)|p.I501M(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)		TCTCTGCTTTGATAATCTTGG	0.363																																						uc010rvp.1																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)		0						c.(1501-1503)ATC>ATT		CWF19-like 2, cell cycle control							190.0	172.0	178.0					11																	107288944		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107288944G>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.1503C>T	11.37:g.107288944G>A						CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.I501I	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)	9	1533	-		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)	501					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.1503C>T	CCDS8336.2																																																																																				PASS	0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		19	50	19	50	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108044369	108044369	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:108044369G>A	ENST00000278612.8	-	13	1447	c.1342C>T	c.(1342-1344)Cct>Tct	p.P448S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	448					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P448S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTCAAATTAGGCACGGACTCA	0.368																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1342-1344)CCT>TCT		nuclear protein,  ataxia-telangiectasia locus							184.0	171.0	175.0					11																	108044369		1885	4106	5991	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044369G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1342C>T	11.37:g.108044369G>A	ENSP00000278612:p.Pro448Ser					NPAT_uc001pka.2_Missense_Mutation_p.P243S	p.P448S	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1444	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	448					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1342C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436084	0.25813	.	.	ENSG00000149308	ENST00000278612	T	0.04015	3.73	5.84	3.92	0.45320	.	0.064498	0.64402	N	0.000012	T	0.03390	0.0098	L	0.41824	1.3	0.28167	N	0.928741	B;B	0.31193	0.312;0.312	B;B	0.25884	0.064;0.064	T	0.35674	-0.9779	10	0.06365	T	0.9	-9.1936	6.8722	0.24127	0.1516:0.2715:0.5769:0.0	.	448;448	B9EG70;Q14207	.;NPAT_HUMAN	S	448	ENSP00000278612:P448S	ENSP00000278612:P448S	P	-	1	0	NPAT	107549579	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	1.607000	0.36836	0.765000	0.33221	0.557000	0.71058	CCT		PASS	0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		14	96	14	96	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117647597	117647597	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:117647597G>A	ENST00000321322.6	-	3	601	c.600C>T	c.(598-600)aaC>aaT	p.N200N	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	140	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N200N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGACGGCCACGTTGCCACGCA	0.517																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(598-600)AAC>AAT		Down syndrome cell adhesion molecule like 1							165.0	130.0	142.0					11																	117647597		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117647597G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.600C>T	11.37:g.117647597G>A						DSCAML1_uc001pri.1_Silent_p.N4N	p.N200N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	3	602	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	140			Extracellular (Potential).|Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.600C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940471	0.52972	.	.	ENSG00000177103	ENST00000525836	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.73552	0.3601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76621	-0.2892	5	0.87932	D	0	.	13.38	0.60762	0.0754:0.0:0.9246:0.0	.	.	.	.	M	42	.	ENSP00000436387:T42M	T	-	2	0	DSCAML1	117152807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.371000	0.52379	2.505000	0.84491	0.655000	0.94253	ACG		PASS	0.517	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	24	4	24	---	---	---	---
TRAPPC4	51399	broad.mit.edu	37	11	118889906	118889906	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:118889906G>T	ENST00000533632.1	+	2	593	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	TRAPPC4_ENST00000434101.2_Missense_Mutation_p.A77S|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.A77S|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.A77S|MIR3656_ENST00000577421.1_RNA|RPS25_ENST00000527673.1_5'Flank|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000528230.1_Intron	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	77					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)		p.A77S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAGGTACACGGCCGACGGGAA	0.567																																						uc010ryo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GCC>TCC		trafficking protein particle complex 4							107.0	87.0	94.0					11																	118889906		2200	4295	6495	SO:0001583	missense	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889906G>T	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.229G>T	11.37:g.118889906G>T	ENSP00000436005:p.Ala77Ser					RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.A77S|TRAPPC4_uc010ryp.1_Missense_Mutation_p.A77S|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.A77S	p.A77S	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	2	494	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	77					A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	c.229G>T	CCDS8407.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667263	0.47677	.	.	ENSG00000196655	ENST00000533632;ENST00000434101;ENST00000359005;ENST00000533058	T;D;T;T	0.81821	-1.36;-1.54;0.96;0.92	5.86	4.94	0.65067	Longin-like (1);	0.139926	0.64402	N	0.000004	T	0.70919	0.3279	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.12013	0.002;0.005;0.0;0.0	B;B;B;B	0.14578	0.006;0.011;0.002;0.001	T	0.65207	-0.6224	10	0.10111	T	0.7	-4.1991	16.4821	0.84160	0.0:0.0:0.868:0.132	.	77;77;77;77	B4DF86;B4DME1;Q9Y296;B4DF36	.;.;TPPC4_HUMAN;.	S	77	ENSP00000436005:A77S;ENSP00000405033:A77S;ENSP00000351896:A77S;ENSP00000432920:A77S	ENSP00000351896:A77S	A	+	1	0	TRAPPC4	118395116	1.000000	0.71417	0.972000	0.41901	0.980000	0.70556	5.482000	0.66833	1.470000	0.48102	0.655000	0.94253	GCC		PASS	0.567	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146		5	22	5	22	---	---	---	---
THY1	7070	broad.mit.edu	37	11	119290994	119290994	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:119290994G>T	ENST00000284240.5	-	3	1179	c.140C>A	c.(139-141)cCc>cAc	p.P47H	THY1_ENST00000580275.1_Missense_Mutation_p.P30H|THY1_ENST00000528522.1_Missense_Mutation_p.P47H|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000498979.2_RNA|RP11-334E6.12_ENST00000578216.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	47	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)	p.P47H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GTACTGGATGGGTGAACTGCT	0.587																																						uc001pwq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CCC>CAC		Thy-1 cell surface antigen preproprotein							174.0	156.0	162.0					11																	119290994		2199	4295	6494	SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119290994G>T	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.140C>A	11.37:g.119290994G>T	ENSP00000284240:p.Pro47His					uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.P47H|THY1_uc001pws.2_RNA	p.P47H	NM_006288	NP_006279	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	174	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	47			Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	c.140C>A	CCDS8424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.417240|3.417240	0.62622|0.62622	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659|ENST00000527590	T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	0.189748|0.189748	0.45361|0.45361	D|D	0.000372|0.000372	T|T	0.75466|0.75466	0.3853|0.3853	M|M	0.77103|0.77103	2.36|2.36	0.37141|0.37141	D|D	0.901715|0.901715	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80774|0.80774	-0.1232|-0.1232	10|7	0.87932|0.48119	D|T	0|0.1	-4.3749|-4.3749	15.3959|15.3959	0.74794|0.74794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	47|.	P04216|.	THY1_HUMAN|.	H|T	47|55	ENSP00000284240:P47H;ENSP00000431301:P47H;ENSP00000432808:P47H;ENSP00000435753:P47H|.	ENSP00000284240:P47H|ENSP00000433689:P55T	P|P	-|-	2|1	0|0	THY1|THY1	118796204|118796204	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.589000|0.589000	0.36550|0.36550	4.400000|4.400000	0.59709|0.59709	2.302000|2.302000	0.77476|0.77476	0.591000|0.591000	0.81541|0.81541	CCC|CCA		PASS	0.587	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		5	42	5	42	---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120329949	120329949	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:120329949G>T	ENST00000397843.2	+	26	2613	c.2447G>T	c.(2446-2448)cGa>cTa	p.R816L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R797L|AP000758.1_ENST00000595283.1_Silent_p.L33L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R713L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	816	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R816L(2)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCTATCAGCGAGTATCCAGA	0.378			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(2446-2448)CGA>CTA		Rho guanine nucleotide exchange factor (GEF) 12							130.0	125.0	127.0					11																	120329949		1842	4098	5940	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120329949G>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2447G>T	11.37:g.120329949G>T	ENSP00000380942:p.Arg816Leu					ARHGEF12_uc009zat.2_Missense_Mutation_p.R797L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R713L|ARHGEF12_uc009zau.1_Missense_Mutation_p.R713L	p.R816L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	26	2454	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	816			DH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.2447G>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567488	0.86439	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.63744	-0.06;-0.06;-0.06	5.62	5.62	0.85841	Dbl homology (DH) domain (5);	0.000000	0.38492	N	0.001666	T	0.78000	0.4215	M	0.65975	2.015	0.52099	D	0.999943	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.67900	0.954;0.92;0.952	T	0.77413	-0.2597	10	0.49607	T	0.09	-8.9831	19.6767	0.95936	0.0:0.0:1.0:0.0	.	713;797;816	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	816;797;713	ENSP00000380942:R816L;ENSP00000349056:R797L;ENSP00000432984:R713L	ENSP00000349056:R797L	R	+	2	0	ARHGEF12	119835159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.035000	0.57297	2.634000	0.89283	0.655000	0.94253	CGA		PASS	0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		7	140	7	140	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120996091	120996091	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:120996091C>T	ENST00000392793.1	+	8	1555	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	TECTA_ENST00000264037.2_Silent_p.A428A			O75443	TECTA_HUMAN	tectorin alpha	428	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A428A(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TATCTACTGCCGTGGAAACAG	0.473																																						uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(1282-1284)GCC>GCT		tectorin alpha precursor							211.0	220.0	217.0					11																	120996091		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996091C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1284C>T	11.37:g.120996091C>T							p.A428A	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1284	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	428			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.1284C>T	CCDS8434.1																																																																																				PASS	0.473	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		6	160	6	160	---	---	---	---
UBASH3B	84959	broad.mit.edu	37	11	122646964	122646964	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:122646964C>A	ENST00000284273.5	+	2	574	c.199C>A	c.(199-201)Cag>Aag	p.Q67K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	67	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.Q67K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AAGAAGTGTTCAGGCAGCATG	0.403																																						uc001pyi.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(199-201)CAG>AAG		ubiquitin associated and SH3 domain containing,							100.0	99.0	99.0					11																	122646964		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122646964C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.199C>A	11.37:g.122646964C>A	ENSP00000284273:p.Gln67Lys						p.Q67K	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	2	559	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	67			UBA.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.199C>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942461	0.92526	.	.	ENSG00000154127	ENST00000284273	T	0.23552	1.9	5.14	5.14	0.70334	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.92077	3.27	0.80722	D	1	D	0.56746	0.977	P	0.60068	0.868	T	0.71540	-0.4562	10	0.87932	D	0	-14.2116	18.6225	0.91326	0.0:1.0:0.0:0.0	.	67	Q8TF42	UBS3B_HUMAN	K	67	ENSP00000284273:Q67K	ENSP00000284273:Q67K	Q	+	1	0	UBASH3B	122152174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.298000	0.78815	2.402000	0.81655	0.655000	0.94253	CAG		PASS	0.403	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		6	62	6	62	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123887073	123887073	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:123887073G>T	ENST00000320891.4	+	1	792	c.792G>T	c.(790-792)atG>atT	p.M264I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M264I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAGGCTCCATGGATGCCATGG	0.517																																						uc010sac.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(790-792)ATG>ATT		olfactory receptor, family 10, subfamily G,							117.0	94.0	102.0					11																	123887073		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887073G>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.792G>T	11.37:g.123887073G>T	ENSP00000325076:p.Met264Ile						p.M264I	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	792	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	264			Extracellular (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.792G>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	-	0.955	-0.705297	0.03255	.	.	ENSG00000254737	ENST00000320891	T	0.34667	1.35	3.48	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.913972	0.09066	N	0.853589	T	0.18676	0.0448	N	0.03608	-0.345	0.09310	N	1	B	0.17852	0.024	B	0.28139	0.086	T	0.30208	-0.9986	10	0.62326	D	0.03	.	6.6055	0.22724	0.1925:0.1537:0.6538:0.0	.	264	Q8NGN3	O10G4_HUMAN	I	264	ENSP00000325076:M264I	ENSP00000325076:M264I	M	+	3	0	OR10G4	123392283	0.000000	0.05858	0.011000	0.14972	0.002000	0.02628	-0.933000	0.03959	0.816000	0.34421	-0.244000	0.11960	ATG		PASS	0.517	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		7	46	7	46	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900523	123900523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:123900523C>A	ENST00000431524.1	+	1	227	c.194C>A	c.(193-195)tCg>tAg	p.S65*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S65*(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)		ACCAACCTGTCGTTCATTGAC	0.532																																						uc001pzp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(193-195)TCG>TAG		olfactory receptor, family 10, subfamily G,							256.0	204.0	221.0					11																	123900523		2201	4299	6500	SO:0001587	stop_gained	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900523C>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.194C>A	11.37:g.123900523C>A	ENSP00000389072:p.Ser65*						p.S65*	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	194	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	65			Helical; Name=2; (Potential).		B2RNJ3|Q6IEV2	Nonsense_Mutation	SNP	ENST00000431524.1	37	c.194C>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113669	0.77210	.	.	ENSG00000234560	ENST00000431524	.	.	.	2.95	2.95	0.34219	.	0.000000	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0832	0.59125	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000389072:S65X	S	+	2	0	OR10G8	123405733	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	1.010000	0.29898	1.634000	0.50500	0.585000	0.79938	TCG		PASS	0.532	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		5	59	5	59	---	---	---	---
EI24	9538	broad.mit.edu	37	11	125450000	125450000	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr11:125450000G>T	ENST00000278903.6	+	8	815	c.573G>T	c.(571-573)gtG>gtT	p.V191V	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Silent_p.V191V	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	191					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V191V(1)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGTTTGTGAGTCTCTTTC	0.433																																						uc001qca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(571-573)GTG>GTT		etoposide induced 2.4 isoform 1							333.0	310.0	318.0					11																	125450000		1926	4129	6055	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125450000G>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.573G>T	11.37:g.125450000G>T						EI24_uc001qcb.2_Silent_p.V191V|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Silent_p.V191V|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Silent_p.V177V|EI24_uc010sbf.1_RNA	p.V191V	NM_004879	NP_004870	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	8	815	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	191			Helical; (Potential).		A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.573G>T																																																																																					PASS	0.433	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		8	177	8	177	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	991098	991098	+	Silent	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:991098A>C	ENST00000315939.6	+	14	3874	c.3231A>C	c.(3229-3231)tcA>tcC	p.S1077S	WNK1_ENST00000537687.1_Silent_p.S1337S|WNK1_ENST00000535572.1_Silent_p.S830S|WNK1_ENST00000530271.2_Silent_p.S1575S|WNK1_ENST00000340908.4_Silent_p.S670S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1077					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1337S(1)|p.S1077S(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATGTTGCTTCAGGTATGAGTG	0.393																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - coding silent(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3229-3231)TCA>TCC		WNK lysine deficient protein kinase 1							67.0	62.0	64.0					12																	991098		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:991098A>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3231A>C	12.37:g.991098A>C						WNK1_uc001qip.3_Silent_p.S830S|WNK1_uc001qir.3_Silent_p.S250S	p.S1077S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		14	3738	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1077					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.3231A>C	CCDS8506.1																																																																																				PASS	0.393	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		10	40	10	40	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994585	994585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:994585G>T	ENST00000315939.6	+	19	5258	c.4615G>T	c.(4615-4617)Gga>Tga	p.G1539*	WNK1_ENST00000537687.1_Nonsense_Mutation_p.G1799*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.G1292*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.G2037*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.G1132*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1539					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.G1539*(1)|p.G1799*(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGTACAACTGGATTGGCTTT	0.478																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Nonsense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4615-4617)GGA>TGA		WNK lysine deficient protein kinase 1							428.0	376.0	394.0					12																	994585		2203	4300	6503	SO:0001587	stop_gained	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994585G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4615G>T	12.37:g.994585G>T	ENSP00000313059:p.Gly1539*					WNK1_uc001qip.3_Nonsense_Mutation_p.G1292*|WNK1_uc001qir.3_Nonsense_Mutation_p.G712*	p.G1539*	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5122	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1539					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	37	c.4615G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	47	13.109512	0.99720	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	.	.	.	5.3	4.41	0.53225	.	0.088297	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.7149	14.2177	0.65805	0.0724:0.0:0.9276:0.0	.	.	.	.	X	1292;1539;1799;712;2037;1132	.	ENSP00000252477:G712X	G	+	1	0	WNK1	864846	1.000000	0.71417	0.561000	0.28357	0.566000	0.35808	4.916000	0.63362	1.366000	0.46076	0.655000	0.94253	GGA		PASS	0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		9	236	9	236	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1005356	1005356	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:1005356G>C	ENST00000315939.6	+	24	6346	c.5703G>C	c.(5701-5703)gaG>gaC	p.E1901D	WNK1_ENST00000537687.1_Missense_Mutation_p.E2161D|WNK1_ENST00000535572.1_Missense_Mutation_p.E1653D|WNK1_ENST00000530271.2_Missense_Mutation_p.E2399D|WNK1_ENST00000340908.4_Missense_Mutation_p.E1494D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1901					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.E1901D(1)|p.E2161D(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTAGTCCAGAGAGTACCTTGG	0.468																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(5701-5703)GAG>GAC		WNK lysine deficient protein kinase 1							87.0	85.0	86.0					12																	1005356		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005356G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5703G>C	12.37:g.1005356G>C	ENSP00000313059:p.Glu1901Asp					WNK1_uc001qip.3_Missense_Mutation_p.E1653D|WNK1_uc001qir.3_Missense_Mutation_p.E1074D	p.E1901D	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6210	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1901					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5703G>C	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918255	0.52546	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.77620	-1.11;-1.06;-1.04;-1.08;0.17	5.91	3.02	0.34903	.	0.000000	0.64402	D	0.000003	D	0.84469	0.5479	M	0.63843	1.955	0.46586	D	0.999117	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.83275	0.996;0.99;0.978	T	0.83235	-0.0061	10	0.62326	D	0.03	-17.28	10.8016	0.46491	0.2117:0.0:0.7883:0.0	.	1654;1653;1901	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	D	1653;1901;2161;1074;2399;1494	ENSP00000441972:E1653D;ENSP00000313059:E1901D;ENSP00000444465:E2161D;ENSP00000433548:E2399D;ENSP00000341292:E1494D	ENSP00000252477:E1074D	E	+	3	2	WNK1	875617	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.784000	0.38674	0.356000	0.24157	0.650000	0.86243	GAG		PASS	0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	53	7	53	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7550894	7550894	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:7550894A>C	ENST00000313599.3	-	7	1752	c.1695T>G	c.(1693-1695)tgT>tgG	p.C565W	CD163L1_ENST00000416109.2_Missense_Mutation_p.C575W|CD163L1_ENST00000396630.1_Missense_Mutation_p.C565W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	565	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.C565W(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCTGTGTACACAATTATGCT	0.403																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1693-1695)TGT>TGG		scavenger receptor cysteine-rich type 1							178.0	170.0	173.0					12																	7550894		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7550894A>C	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1695T>G	12.37:g.7550894A>C	ENSP00000315945:p.Cys565Trp					CD163L1_uc010sge.1_Missense_Mutation_p.C575W	p.C565W	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			7	1721	-			565			SRCR 5.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1695T>G	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613912	0.66672	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.52983	0.64;0.64;0.64	2.77	0.383	0.16239	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.241275	0.26616	U	0.023395	T	0.72653	0.3487	H	0.96720	3.87	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70680	-0.4805	10	0.87932	D	0	.	5.365	0.16109	0.704:0.0:0.296:0.0	.	575;565	E7EVK4;Q9NR16	.;C163B_HUMAN	W	565;575;565	ENSP00000315945:C565W;ENSP00000393474:C575W;ENSP00000379871:C565W	ENSP00000315945:C565W	C	-	3	2	CD163L1	7442161	0.000000	0.05858	0.400000	0.26346	0.795000	0.44927	-0.091000	0.11146	0.251000	0.21505	0.377000	0.23210	TGT		PASS	0.403	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		17	82	17	82	---	---	---	---
NECAP1	25977	broad.mit.edu	37	12	8242616	8242616	+	Silent	SNP	C	C	A	rs374460096		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:8242616C>A	ENST00000339754.5	+	2	258	c.180C>A	c.(178-180)ctC>ctA	p.L60L		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	60					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)		p.L60L(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		ATATCAAACTCGAGGATAAAG	0.428																																						uc001qtx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)CTC>CTA		NECAP endocytosis associated 1							97.0	102.0	100.0					12																	8242616		2203	4300	6503	SO:0001819	synonymous_variant	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8242616C>A	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.180C>A	12.37:g.8242616C>A						NECAP1_uc001qty.2_5'UTR	p.L60L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	2	258	+			60					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	c.180C>A	CCDS8589.1																																																																																				PASS	0.428	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		5	96	5	96	---	---	---	---
YBX3	8531	broad.mit.edu	37	12	10853928	10853928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:10853928C>A	ENST00000228251.4	-	9	1278	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Nonsense_Mutation_p.E291*	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	360					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E360*(1)									GCAGGGTTCTCAGTTGGTGCT	0.498																																						uc001qyt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|large_intestine(1)	4						c.(1078-1080)GAG>TAG		cold shock domain protein A isoform a							113.0	96.0	102.0					12																	10853928		2203	4300	6503	SO:0001587	stop_gained	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10853928C>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.1078G>T	12.37:g.10853928C>A	ENSP00000228251:p.Glu360*					CSDA_uc001qyu.2_Nonsense_Mutation_p.E291*	p.E360*	NM_003651	NP_003642	P16989	DBPA_HUMAN			9	1321	-	Glioma(1;0.155)		360					B2RBW6|Q14121|Q969N6|Q96B76	Nonsense_Mutation	SNP	ENST00000228251.4	37	c.1078G>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	C	37	6.506072	0.97620	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	.	.	.	5.42	5.42	0.78866	.	0.075250	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.7105	0.85384	0.0:1.0:0.0:0.0	.	.	.	.	X	291;360	.	ENSP00000228251:E360X	E	-	1	0	CSDA	10745195	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.797000	0.62503	2.529000	0.85273	0.655000	0.94253	GAG		PASS	0.498	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		6	69	6	69	---	---	---	---
TAS2R46	259292	broad.mit.edu	37	12	11214162	11214162	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:11214162G>T	ENST00000533467.1	-	1	731	c.732C>A	c.(730-732)tcC>tcA	p.S244S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	244					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S244S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		ACATGATTATGGACAGAAAGT	0.428																																						uc001qzp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(730-732)TCC>TCA		taste receptor, type 2, member 46							180.0	188.0	185.0					12																	11214162		2203	4300	6503	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214162G>T	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.732C>A	12.37:g.11214162G>T						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.S244S	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	732	-			244			Helical; Name=6; (Potential).		P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.732C>A	CCDS53748.1																																																																																				PASS	0.428	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		9	182	9	182	---	---	---	---
TAS2R42	353164	broad.mit.edu	37	12	11338923	11338923	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:11338923C>A	ENST00000334266.1	-	1	620	c.621G>T	c.(619-621)ttG>ttT	p.L207F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	207					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L207F(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TATGTCTCACCAAGGACAGAA	0.408																																					Melanoma(15;352 722 10077 19546 48810)	uc001qzr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)TTG>TTT		taste receptor, type 2, member 42							53.0	57.0	55.0					12																	11338923		2203	4298	6501	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338923C>A	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.621G>T	12.37:g.11338923C>A	ENSP00000334050:p.Leu207Phe					PRB4_uc001qzf.1_Intron	p.L207F	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	621	-			207			Helical; Name=5; (Potential).		A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.621G>T	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	C	9.786	1.176709	0.21704	.	.	ENSG00000186136	ENST00000334266	T	0.02280	4.36	3.46	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.110360	0.37095	N	0.002256	T	0.13200	0.0320	H	0.94847	3.59	0.22719	N	0.998812	D	0.89917	1.0	D	0.91635	0.999	T	0.06215	-1.0839	10	0.87932	D	0	.	3.6252	0.08111	0.2481:0.6187:0.0:0.1331	.	207	Q7RTR8	T2R42_HUMAN	F	207	ENSP00000334050:L207F	ENSP00000334050:L207F	L	-	3	2	TAS2R42	11230190	0.187000	0.23238	0.978000	0.43139	0.002000	0.02628	-0.054000	0.11826	0.805000	0.34159	-0.314000	0.08810	TTG		PASS	0.408	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		6	87	6	87	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14778782	14778782	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:14778782G>T	ENST00000261170.3	-	21	2453	c.2317C>A	c.(2317-2319)Cga>Aga	p.R773R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	773					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.R773R(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCCAGGTTTCGAGAATATAGC	0.408																																						uc001rcd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(2317-2319)CGA>AGA		guanylate cyclase 2C precursor							191.0	169.0	177.0					12																	14778782		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14778782G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2317C>A	12.37:g.14778782G>T							p.R773R	NM_004963	NP_004954	P25092	GUC2C_HUMAN			21	2454	-			773			Cytoplasmic (Potential).		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.2317C>A	CCDS8664.1																																																																																				PASS	0.408	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			7	136	7	136	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18656284	18656284	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:18656284C>A	ENST00000266497.5	+	21	3001	c.2963C>A	c.(2962-2964)cCa>cAa	p.P988Q	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P1029Q|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P988Q			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	988	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.P988Q(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGATAGGACCATTGAAAGAA	0.378																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2962-2964)CCA>CAA		phosphoinositide-3-kinase, class 2 gamma							83.0	78.0	80.0					12																	18656284		1846	4095	5941	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18656284C>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2963C>A	12.37:g.18656284C>A	ENSP00000266497:p.Pro988Gln					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.P1029Q|PIK3C2G_uc010sic.1_Missense_Mutation_p.P807Q	p.P988Q	NM_004570	NP_004561	O75747	P3C2G_HUMAN			22	3079	+		Hepatocellular(102;0.194)	988			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2963C>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081322	0.36758	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.80824	-1.42;-1.42;-1.42	3.88	3.88	0.44766	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.152990	0.43579	D	0.000552	T	0.81550	0.4846	N	0.19112	0.55	0.29161	N	0.87779	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.977;0.987	T	0.76984	-0.2756	10	0.59425	D	0.04	-11.4295	14.1655	0.65473	0.0:1.0:0.0:0.0	.	1028;1029;988	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Q	988;988;1029	ENSP00000404845:P988Q;ENSP00000266497:P988Q;ENSP00000445381:P1029Q	ENSP00000266497:P988Q	P	+	2	0	PIK3C2G	18547551	0.983000	0.35010	0.817000	0.32601	0.228000	0.25075	4.914000	0.63348	2.452000	0.82932	0.561000	0.74099	CCA		PASS	0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		6	46	6	46	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21693481	21693481	+	Missense_Mutation	SNP	G	G	A	rs148617918		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:21693481G>A	ENST00000261195.2	-	14	1926	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R558C(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTGGAGAACGGAACCGCCTG	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17644	0.0		0.0	False		,,,				2504	0.0				Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1672-1674)CGT>TGT		glycogen synthase 2		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	100.0	100.0		1672	-0.2	1.0	12	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GYS2	NM_021957.3	180	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	558/704	21693481	4,13002	2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693481G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1672C>T	12.37:g.21693481G>A	ENSP00000261195:p.Arg558Cys						p.R558C	NM_021957	NP_068776	P54840	GYS2_HUMAN			14	1927	-			558					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1672C>T	CCDS8690.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.21	2.467967	0.43839	2.27E-4	3.49E-4	ENSG00000111713	ENST00000261195	T	0.66099	-0.19	5.1	-0.152	0.13407	.	0.593520	0.18354	N	0.143787	T	0.55033	0.1895	L	0.56769	1.78	0.58432	D	0.999997	B	0.14438	0.01	B	0.12156	0.007	T	0.54330	-0.8310	10	0.66056	D	0.02	-1.7161	11.1024	0.48182	0.3597:0.0:0.6403:0.0	.	558	P54840	GYS2_HUMAN	C	558	ENSP00000261195:R558C	ENSP00000261195:R558C	R	-	1	0	GYS2	21584748	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	1.288000	0.33296	0.069000	0.16605	0.650000	0.86243	CGT		PASS	0.413	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		24	86	24	86	---	---	---	---
LDHB	3945	broad.mit.edu	37	12	21788614	21788614	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:21788614G>A	ENST00000396076.1	-	8	1199	c.867C>T	c.(865-867)ttC>ttT	p.F289F	LDHB_ENST00000350669.1_Silent_p.F289F	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	289					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.F289F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						GAAGGCTCAGGAAGACTTCAT	0.438																																						uc001rfc.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(865-867)TTC>TTT		L-lactate dehydrogenase B	NADH(DB00157)						105.0	88.0	94.0					12																	21788614		2203	4300	6503	SO:0001819	synonymous_variant	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21788614G>A		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.867C>T	12.37:g.21788614G>A						LDHB_uc001rfd.2_Silent_p.F289F|LDHB_uc001rfe.2_Silent_p.F289F	p.F289F	NM_002300	NP_002291	P07195	LDHB_HUMAN			7	885	-			289						Silent	SNP	ENST00000396076.1	37	c.867C>T	CCDS8691.1																																																																																				PASS	0.438	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		7	22	7	22	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39716583	39716583	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:39716583G>T	ENST00000361418.5	-	27	3573	c.3558C>A	c.(3556-3558)ctC>ctA	p.L1186L	KIF21A_ENST00000361961.3_Silent_p.L1173L|KIF21A_ENST00000541463.2_Silent_p.L1150L|KIF21A_ENST00000395670.3_Silent_p.L1186L|KIF21A_ENST00000544797.2_Silent_p.L1166L|KIF21A_ENST00000547745.1_5'Flank			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1186					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1173L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAACAGGTGTGAGAGGGCCAG	0.502																																						uc001rly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3556-3558)CTC>CTA		kinesin family member 21A							211.0	195.0	200.0					12																	39716583		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716583G>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3558C>A	12.37:g.39716583G>T						KIF21A_uc001rlv.2_Silent_p.L191L|KIF21A_uc001rlw.2_Silent_p.L503L|KIF21A_uc001rlx.2_Silent_p.L1173L|KIF21A_uc001rlz.2_Silent_p.L1150L|KIF21A_uc010skl.1_Silent_p.L1166L	p.L1186L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			27	3704	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1186					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3558C>A	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	5.082	0.200826	0.09652	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.37	-2.08	0.07254	.	.	.	.	.	.	.	.	.	.	.	0.38178	D	0.939529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0973	0.36647	0.3646:0.1286:0.5068:0.0	.	.	.	.	X	534	.	.	S	-	2	0	KIF21A	38002850	0.099000	0.21834	0.012000	0.15200	0.976000	0.68499	0.105000	0.15333	-0.661000	0.05345	-0.238000	0.12139	TCA		PASS	0.502	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	107	8	107	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39751147	39751147	+	Silent	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:39751147A>T	ENST00000361418.5	-	9	1323	c.1308T>A	c.(1306-1308)cgT>cgA	p.R436R	KIF21A_ENST00000361961.3_Silent_p.R436R|KIF21A_ENST00000541463.2_Silent_p.R436R|KIF21A_ENST00000395670.3_Silent_p.R436R|KIF21A_ENST00000544797.2_Silent_p.R436R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	436					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R436R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TAATTCTTACACGCAGGTTAT	0.408																																						uc001rly.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1306-1308)CGT>CGA		kinesin family member 21A							160.0	148.0	152.0					12																	39751147		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39751147A>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1308T>A	12.37:g.39751147A>T						KIF21A_uc001rlx.2_Silent_p.R436R|KIF21A_uc001rlz.2_Silent_p.R436R|KIF21A_uc010skl.1_Silent_p.R436R|KIF21A_uc001rma.1_Silent_p.R444R	p.R436R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			9	1454	-		Lung NSC(34;0.179)|all_lung(34;0.213)	436			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1308T>A	CCDS53776.1																																																																																				PASS	0.408	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	87	10	87	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41323798	41323798	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:41323798C>A	ENST00000551295.2	+	7	814	c.697C>A	c.(697-699)Cct>Act	p.P233T	CNTN1_ENST00000348761.2_Missense_Mutation_p.P222T|CNTN1_ENST00000347616.1_Missense_Mutation_p.P233T|CNTN1_ENST00000360099.3_Missense_Mutation_p.P233T|CNTN1_ENST00000547702.1_Missense_Mutation_p.P233T|CNTN1_ENST00000547849.1_Missense_Mutation_p.P233T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	233					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P233T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATTCCAATACCTGAACGTAA	0.368																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(697-699)CCT>ACT		contactin 1 isoform 1 precursor							148.0	141.0	143.0					12																	41323798		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323798C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.697C>A	12.37:g.41323798C>A	ENSP00000447006:p.Pro233Thr					CNTN1_uc009zjy.1_Missense_Mutation_p.P233T|CNTN1_uc001rmn.1_Missense_Mutation_p.P222T|CNTN1_uc001rmo.2_Missense_Mutation_p.P233T	p.P233T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			7	810	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	233					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.697C>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	0.728	-0.781139	0.02929	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67171	-0.25;0.14;-0.25;0.14;-0.25;0.12	5.39	4.27	0.50696	.	0.284426	0.39615	N	0.001304	T	0.32793	0.0841	N	0.03324	-0.35	0.25976	N	0.982432	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.14023	0.003;0.01;0.004	T	0.16188	-1.0411	10	0.12766	T	0.61	.	1.6572	0.02784	0.172:0.365:0.3067:0.1563	.	233;222;233	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	T	233;233;233;233;233;222	ENSP00000448004:P233T;ENSP00000447006:P233T;ENSP00000448653:P233T;ENSP00000325660:P233T;ENSP00000353213:P233T;ENSP00000261160:P222T	ENSP00000325660:P233T	P	+	1	0	CNTN1	39610065	0.156000	0.22821	0.992000	0.48379	0.995000	0.86356	0.463000	0.21972	2.699000	0.92147	0.655000	0.94253	CCT		PASS	0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		22	91	22	91	---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44238497	44238497	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:44238497C>A	ENST00000266534.3	+	2	170	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	TMEM117_ENST00000551577.1_Missense_Mutation_p.R15S|TMEM117_ENST00000536799.1_5'Flank	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	15						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R15S(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)		TCCCTGGTCTCGCATGATTGT	0.403																																						uc001rod.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)CGC>AGC		transmembrane protein 117							188.0	188.0	188.0					12																	44238497		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44238497C>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.43C>A	12.37:g.44238497C>A	ENSP00000266534:p.Arg15Ser					TMEM117_uc001roe.2_5'UTR|TMEM117_uc009zkc.2_Missense_Mutation_p.R15S	p.R15S	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	2	109	+	Lung SC(27;0.192)		15						Missense_Mutation	SNP	ENST00000266534.3	37	c.43C>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317512	0.95682	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.57107	0.42;0.42	5.72	5.72	0.89469	.	0.049096	0.85682	D	0.000000	T	0.61652	0.2364	L	0.61218	1.895	0.80722	D	1	P;P	0.52170	0.951;0.785	P;B	0.47744	0.556;0.261	T	0.65245	-0.6215	10	0.87932	D	0	-11.5548	20.2406	0.98372	0.0:1.0:0.0:0.0	.	15;15	F8VS00;Q9H0C3	.;TM117_HUMAN	S	15	ENSP00000448595:R15S;ENSP00000266534:R15S	ENSP00000266534:R15S	R	+	1	0	TMEM117	42524764	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.732000	0.84908	2.857000	0.98124	0.650000	0.86243	CGC		PASS	0.403	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		5	103	5	103	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46316732	46316732	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:46316732G>T	ENST00000369367.3	-	13	4345	c.4112C>A	c.(4111-4113)tCg>tAg	p.S1371*	SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Nonsense_Mutation_p.S1056*|SCAF11_ENST00000419565.2_Nonsense_Mutation_p.S1371*|SCAF11_ENST00000549162.1_Nonsense_Mutation_p.S1179*	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1371					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1371*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTCTGTCTTCGAGCTATCTGC	0.403																																						uc001rox.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(4111-4113)TCG>TAG		splicing factor, arginine/serine-rich 2,							182.0	175.0	177.0					12																	46316732		2203	4300	6503	SO:0001587	stop_gained	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316732G>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4112C>A	12.37:g.46316732G>T	ENSP00000358374:p.Ser1371*					SFRS2IP_uc001row.2_Nonsense_Mutation_p.S1056*	p.S1371*	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	13	4399	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	1371					A6NEU9|A6NLW5|Q8IW59	Nonsense_Mutation	SNP	ENST00000369367.3	37	c.4112C>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	50	17.138829	0.99880	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	.	.	.	6.03	6.03	0.97812	.	0.000000	0.36034	N	0.002829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0612	20.6398	0.99548	0.0:0.0:1.0:0.0	.	.	.	.	X	1056;1371;1179;1371	.	ENSP00000358374:S1371X	S	-	2	0	SCAF11	44602999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.774000	0.75012	2.881000	0.98747	0.650000	0.86243	TCG		PASS	0.403	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	168	8	168	---	---	---	---
SLC38A1	81539	broad.mit.edu	37	12	46601397	46601397	+	Missense_Mutation	SNP	C	C	A	rs35753977		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:46601397C>A	ENST00000398637.5	-	7	1090	c.396G>T	c.(394-396)atG>atT	p.M132I	SLC38A1_ENST00000546893.1_Missense_Mutation_p.M132I|SLC38A1_ENST00000552197.1_Missense_Mutation_p.M132I|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.M132I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.M132I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	132					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.M132I(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTCATACACCATGCAGCCTA	0.398																																						uc001rpa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(394-396)ATG>ATT		amino acid transporter system A1							99.0	97.0	98.0					12																	46601397		1830	4082	5912	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46601397C>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.396G>T	12.37:g.46601397C>A	ENSP00000381634:p.Met132Ile					SLC38A1_uc001rpb.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpc.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpd.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpe.2_Missense_Mutation_p.M132I|SLC38A1_uc010slh.1_Missense_Mutation_p.M105I|SLC38A1_uc009zkj.1_Missense_Mutation_p.M132I	p.M132I	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		7	654	-	Lung SC(27;0.137)|Renal(347;0.236)		132			Helical; (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.396G>T	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465812	0.84425	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.04588	0.0125	L	0.36672	1.1	0.53688	D	0.999974	B;P;P	0.42871	0.309;0.792;0.483	P;B;B	0.45232	0.474;0.283;0.127	T	0.51880	-0.8649	10	0.48119	T	0.1	-34.7998	19.6512	0.95812	0.0:1.0:0.0:0.0	.	132;132;132	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	I	132	ENSP00000449607:M132I;ENSP00000398142:M132I;ENSP00000381634:M132I;ENSP00000447853:M132I;ENSP00000449756:M132I	ENSP00000381634:M132I	M	-	3	0	SLC38A1	44887664	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.924000	0.56476	2.646000	0.89796	0.563000	0.77884	ATG		PASS	0.398	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			7	128	7	128	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48538878	48538878	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:48538878G>T	ENST00000312352.7	+	21	2096	c.2057G>T	c.(2056-2058)tGg>tTg	p.W686L	PFKM_ENST00000340802.6_Missense_Mutation_p.W757L|PFKM_ENST00000395233.2_Missense_Mutation_p.W655L|PFKM_ENST00000547587.1_Missense_Mutation_p.W686L|PFKM_ENST00000551804.1_Missense_Mutation_p.W655L|PFKM_ENST00000359794.5_Missense_Mutation_p.W686L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	686	C-terminal regulatory PFK domain 2.		W -> C (in GSD7; Japanese). {ECO:0000269|PubMed:8889589}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.W757L(1)|p.W686L(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCTATGAACTGGATGTCTGGG	0.493																																						uc001rrc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(2056-2058)TGG>TTG		phosphofructokinase, muscle							113.0	107.0	109.0					12																	48538878		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48538878G>T	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2057G>T	12.37:g.48538878G>T	ENSP00000309438:p.Trp686Leu					PFKM_uc001rra.1_Missense_Mutation_p.W371L|PFKM_uc001rrb.1_Missense_Mutation_p.W757L|PFKM_uc001rrd.2_Missense_Mutation_p.W371L|PFKM_uc001rre.1_Missense_Mutation_p.W686L|PFKM_uc001rrg.1_Missense_Mutation_p.W655L	p.W686L	NM_000289	NP_000280	P08237	K6PF_HUMAN			21	2227	+			686		W -> C (in GSD7; Japanese).			J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2057G>T	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231544	0.79688	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.05	5.05	0.67936	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	N	0.16201	0.385	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.504	D;D;B	0.97110	1.0;1.0;0.137	T	0.78298	-0.2258	10	0.30854	T	0.27	-10.9437	18.5901	0.91208	0.0:0.0:1.0:0.0	.	655;686;757	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	L	757;686;655;655;686;686	ENSP00000345771:W757L;ENSP00000352842:W686L;ENSP00000378656:W655L;ENSP00000448177:W655L;ENSP00000449426:W686L;ENSP00000309438:W686L	ENSP00000309438:W686L	W	+	2	0	PFKM	46825145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.793000	0.96121	0.655000	0.94253	TGG		PASS	0.493	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		6	77	6	77	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53009982	53009982	+	Missense_Mutation	SNP	G	G	T	rs116369374	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:53009982G>T	ENST00000305748.3	-	2	664	c.630C>A	c.(628-630)agC>agA	p.S210R	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	210	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S210R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCGCGCACGCTCCTCAGCT	0.622																																						uc001sas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(628-630)AGC>AGA		keratin 73							169.0	148.0	155.0					12																	53009982		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53009982G>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.630C>A	12.37:g.53009982G>T	ENSP00000307014:p.Ser210Arg						p.S210R	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	665	-			210			Coil 1B.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.630C>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773232	0.16051	.	.	ENSG00000186049	ENST00000305748	D	0.88818	-2.43	5.07	2.23	0.28157	Filament (1);	0.400775	0.23585	N	0.046619	T	0.81206	0.4774	L	0.37800	1.135	0.18873	N	0.999985	B	0.12630	0.006	B	0.22152	0.038	T	0.71217	-0.4658	10	0.72032	D	0.01	.	4.5492	0.12103	0.214:0.0:0.5192:0.2668	.	210	Q86Y46	K2C73_HUMAN	R	210	ENSP00000307014:S210R	ENSP00000307014:S210R	S	-	3	2	KRT73	51296249	0.000000	0.05858	0.496000	0.27539	0.195000	0.23768	0.156000	0.16382	0.377000	0.24735	-0.140000	0.14226	AGC		PASS	0.622	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		17	48	17	48	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759010	55759010	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:55759010G>T	ENST00000343399.3	+	1	116	c.116G>T	c.(115-117)gGg>gTg	p.G39V		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G39V(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGTGTGACTGGGAACCTGATC	0.423																																						uc010spk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(115-117)GGG>GTG		olfactory receptor, family 6, subfamily C,							158.0	155.0	156.0					12																	55759010		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759010G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.116G>T	12.37:g.55759010G>T	ENSP00000368987:p.Gly39Val						p.G39V	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	116	+			39			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.116G>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037393	0.54896	.	.	ENSG00000187857	ENST00000343399	T	0.04406	3.63	5.27	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	U	0.000581	T	0.26702	0.0653	H	0.95470	3.675	0.51233	D	0.999911	D	0.62365	0.991	P	0.59115	0.852	T	0.38564	-0.9655	10	0.87932	D	0	.	12.8805	0.58014	0.0792:0.0:0.9208:0.0	.	39	A6NL08	O6C75_HUMAN	V	39	ENSP00000368987:G39V	ENSP00000368987:G39V	G	+	2	0	OR6C75	54045277	0.993000	0.37304	0.984000	0.44739	0.754000	0.42855	2.545000	0.45769	1.454000	0.47793	0.651000	0.88453	GGG		PASS	0.423	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			8	132	8	132	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64410791	64410791	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:64410791C>A	ENST00000355086.3	+	4	1012	c.488C>A	c.(487-489)aCg>aAg	p.T163K	SRGAP1_ENST00000543397.1_Splice_Site_p.T123K|SRGAP1_ENST00000357825.3_Splice_Site_p.T163K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	163	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.T163K(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAGCTTTATACGGTAAGGACA	0.308																																						uc010ssp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(487-489)ACG>AAG		SLIT-ROBO Rho GTPase activating protein 1							120.0	122.0	121.0					12																	64410791		2202	4300	6502	SO:0001630	splice_region_variant	57522				axon guidance	cytosol		g.chr12:64410791C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.489+1C>A	12.37:g.64410791C>A						SRGAP1_uc001srt.2_Missense_Mutation_p.T163K|SRGAP1_uc001srv.2_Missense_Mutation_p.T123K	p.T163K	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	4	544	+			163					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.488C>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348920	0.82132	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.26957	1.7;1.7;3.22	5.58	5.58	0.84498	.	0.000000	0.35936	U	0.002892	T	0.48484	0.1502	M	0.75884	2.315	0.80722	D	1	P;P;D	0.54207	0.662;0.862;0.965	B;P;P	0.57502	0.115;0.77;0.822	T	0.36841	-0.9731	9	.	.	.	.	18.7364	0.91756	0.0:1.0:0.0:0.0	.	163;123;163	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	K	163;163;123	ENSP00000347198:T163K;ENSP00000350480:T163K;ENSP00000437948:T123K	.	T	+	2	0	SRGAP1	62697058	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.016000	0.70798	2.802000	0.96397	0.655000	0.94253	ACG		PASS	0.308	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		Missense_Mutation	6	91	6	91	---	---	---	---
GNS	2799	broad.mit.edu	37	12	65113900	65113900	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:65113900G>T	ENST00000258145.3	-	13	1652	c.1482C>A	c.(1480-1482)acC>acA	p.T494T	GNS_ENST00000418919.2_Silent_p.T438T|GNS_ENST00000542058.1_Silent_p.T474T|GNS_ENST00000543646.1_Silent_p.T526T	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	494					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.T494T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CTGGGTCTATGGTTTTAGCAA	0.448																																						uc001ssg.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1480-1482)ACC>ACA		glucosamine (N-acetyl)-6-sulfatase precursor							247.0	246.0	247.0					12																	65113900		2203	4300	6503	SO:0001819	synonymous_variant	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65113900G>T		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1482C>A	12.37:g.65113900G>T						GNS_uc001ssf.2_Silent_p.T438T|GNS_uc010ssq.1_Silent_p.T526T|GNS_uc010ssr.1_Silent_p.T474T	p.T494T	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	13	1652	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		494					B4DYH8|Q53F05	Silent	SNP	ENST00000258145.3	37	c.1482C>A	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755325	0.15846	.	.	ENSG00000135677	ENST00000540196	.	.	.	5.39	-6.12	0.02124	.	.	.	.	.	T	0.62048	0.2396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64702	-0.6345	4	.	.	.	-16.658	14.3382	0.66606	0.1839:0.0:0.6837:0.1324	.	.	.	.	N	280	.	.	H	-	1	0	GNS	63400167	1.000000	0.71417	0.514000	0.27761	0.801000	0.45260	0.613000	0.24299	-1.047000	0.03242	-0.459000	0.05422	CAT		PASS	0.448	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			8	170	8	170	---	---	---	---
RAP1B	5908	broad.mit.edu	37	12	69050930	69050930	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:69050930G>T	ENST00000250559.9	+	7	749	c.518G>T	c.(517-519)gGg>gTg	p.G173V	RAP1B_ENST00000378985.3_Missense_Mutation_p.G107V|RAP1B_ENST00000393436.5_Missense_Mutation_p.G173V|RAP1B_ENST00000543393.1_Missense_Mutation_p.G107V|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000540209.1_Missense_Mutation_p.G154V|RAP1B_ENST00000543697.1_Missense_Mutation_p.G125V|RAP1B_ENST00000539091.1_Missense_Mutation_p.G131V|RAP1B_ENST00000537460.1_Missense_Mutation_p.G173V|RAP1B_ENST00000341355.5_Missense_Mutation_p.G173V|RAP1B_ENST00000542145.1_Missense_Mutation_p.G126V|RAP1B_ENST00000450214.2_Missense_Mutation_p.G131V	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	173					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.G173V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CCAGTGCCTGGGAAGGCTCGC	0.383																																						uc001sub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)GGG>GTG		SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;							122.0	124.0	123.0					12																	69050930		2202	4297	6499	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050930G>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.518G>T	12.37:g.69050930G>T	ENSP00000250559:p.Gly173Val					RAP1B_uc010ste.1_Missense_Mutation_p.G107V|RAP1B_uc001suc.2_Missense_Mutation_p.G173V|RAP1B_uc010stf.1_Missense_Mutation_p.G154V|RAP1B_uc010stg.1_Missense_Mutation_p.G131V|RAP1B_uc010sth.1_Missense_Mutation_p.G131V|RAP1B_uc010sti.1_Missense_Mutation_p.G126V	p.G173V	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	7	681	+	Breast(13;1.24e-05)		173					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.518G>T	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296663	0.40594	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000539091;ENST00000542145;ENST00000543697	T;T;T;T;T;T;T;T;T;T;T	0.77358	-0.13;-0.13;-0.13;-0.13;-0.11;-0.45;-0.45;-0.18;-0.11;-1.09;-0.49	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	L	0.46947	1.48	0.80722	D	1	B;B;B;B	0.26845	0.012;0.161;0.037;0.021	B;B;B;B	0.35182	0.021;0.197;0.016;0.016	T	0.68610	-0.5363	9	.	.	.	.	15.5729	0.76354	0.0698:0.0:0.9302:0.0	.	126;131;154;173	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	V	173;173;173;173;131;107;107;154;131;126;125	ENSP00000250559:G173V;ENSP00000377085:G173V;ENSP00000441275:G173V;ENSP00000439966:G173V;ENSP00000399986:G131V;ENSP00000445090:G107V;ENSP00000368270:G107V;ENSP00000446318:G154V;ENSP00000444830:G131V;ENSP00000440014:G126V;ENSP00000440708:G125V	.	G	+	2	0	RAP1B	67337197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.872000	0.69636	2.817000	0.96982	0.644000	0.83932	GGG		PASS	0.383	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		8	182	8	182	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71286515	71286515	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:71286515C>A	ENST00000283228.2	-	2	753	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	101					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G101C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGATCTTGACCATCCATGGCC	0.448																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(301-303)GGT>TGT		protein tyrosine phosphatase, receptor type, R							199.0	188.0	191.0					12																	71286515		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286515C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.301G>T	12.37:g.71286515C>A	ENSP00000283228:p.Gly101Cys						p.G101C	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	717	-			101			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.301G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160140	0.57368	.	.	ENSG00000153233	ENST00000283228	T	0.03745	3.82	6.05	6.05	0.98169	.	0.132409	0.33610	U	0.004721	T	0.09158	0.0226	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.59487	0.858	T	0.12116	-1.0560	10	0.87932	D	0	-9.5813	19.5894	0.95501	0.0:1.0:0.0:0.0	.	101	Q15256	PTPRR_HUMAN	C	101	ENSP00000283228:G101C	ENSP00000283228:G101C	G	-	1	0	PTPRR	69572782	1.000000	0.71417	0.971000	0.41717	0.257000	0.26127	3.790000	0.55461	2.878000	0.98634	0.650000	0.86243	GGT		PASS	0.448	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		7	119	7	119	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71978100	71978100	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:71978100G>T	ENST00000266674.5	+	18	2621	c.2310G>T	c.(2308-2310)ctG>ctT	p.L770L	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Silent_p.L746L|LGR5_ENST00000536515.1_Silent_p.L698L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	770					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.L770L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACATTGCCCTGTTGCTCTTCA	0.423																																						uc001swl.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(2308-2310)CTG>CTT		leucine-rich repeat-containing G protein-coupled							150.0	146.0	147.0					12																	71978100		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978100G>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2310G>T	12.37:g.71978100G>T						LGR5_uc001swm.2_Silent_p.L746L|LGR5_uc001swn.1_Intron	p.L770L	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	2358	+			770			Helical; Name=6; (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.2310G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	6.125	0.391336	0.11581	.	.	ENSG00000139292	ENST00000451585	.	.	.	5.85	1.76	0.24704	.	.	.	.	.	T	0.58991	0.2161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57359	-0.7825	5	0.72032	D	0.01	.	4.6639	0.12655	0.1247:0.2239:0.5355:0.1158	.	.	.	.	F	750	.	ENSP00000414152:V750F	V	+	1	0	LGR5	70264367	0.945000	0.32115	0.768000	0.31515	0.991000	0.79684	1.283000	0.33237	0.358000	0.24211	0.655000	0.94253	GTT		PASS	0.423	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		6	99	6	99	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513071	78513071	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:78513071C>T	ENST00000397909.2	+	15	3268	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1032L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1032L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1032L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1032	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1032L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAAAAGGATCATCTCTACAA	0.438										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3094-3096)TCA>TTA		neuron navigator 3							118.0	113.0	115.0					12																	78513071		1862	4097	5959	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513071C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3095C>T	12.37:g.78513071C>T	ENSP00000381007:p.Ser1032Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1032L|NAV3_uc010sub.1_Missense_Mutation_p.S532L|NAV3_uc009zsf.2_Missense_Mutation_p.S40L	p.S1032L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3268	+			1032			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3095C>T		.	.	.	.	.	.	.	.	.	.	C	14.51	2.556272	0.45487	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	6.0	5.1	0.69264	.	0.481868	0.15070	U	0.282242	T	0.31136	0.0787	L	0.32530	0.975	0.42474	D	0.99283	B;P;B;B	0.43633	0.167;0.813;0.126;0.034	B;B;B;B	0.44224	0.097;0.444;0.034;0.036	T	0.09552	-1.0669	10	0.87932	D	0	-0.708	14.1459	0.65351	0.2734:0.7266:0.0:0.0	.	1032;1032;1032;1032	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1032	ENSP00000446132:S1032L;ENSP00000381007:S1032L;ENSP00000228327:S1032L;ENSP00000266692:S1032L	ENSP00000228327:S1032L	S	+	2	0	NAV3	77037202	0.039000	0.19947	0.112000	0.21494	0.982000	0.71751	2.952000	0.49097	1.499000	0.48617	0.655000	0.94253	TCA		PASS	0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		21	109	21	109	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78562613	78562613	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:78562613G>T	ENST00000397909.2	+	24	5121	c.4948G>T	c.(4948-4950)Gga>Tga	p.G1650*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.G1650*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.G1473*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.G1650*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1650						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G1650*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCTATTCAGGGAGCACTGAA	0.378										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4948-4950)GGA>TGA		neuron navigator 3							77.0	79.0	78.0					12																	78562613		1828	4071	5899	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562613G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4948G>T	12.37:g.78562613G>T	ENSP00000381007:p.Gly1650*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.G1650*|NAV3_uc010sub.1_Nonsense_Mutation_p.G1136*|NAV3_uc009zsf.2_Nonsense_Mutation_p.G481*	p.G1650*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			24	5121	+			1650			Potential.		Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.4948G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.476819|13.476819	0.99744|0.99744	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|0.000000	0.39274|0.39274	U|U	0.001414|0.001414	T|.	0.76392|.	0.3981|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75124|.	-0.3428|.	5|.	.|0.44086	.|T	.|0.13	-16.4137|-16.4137	19.559|19.559	0.95364|0.95364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	544|1650;1650;1650;1473;271;279	.|.	.|ENSP00000228327:G1650X	G|G	+|+	2|1	0|0	NAV3|NAV3	77086744|77086744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.813000|9.813000	0.99286|0.99286	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	GGG|GGA		PASS	0.378	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	121	7	121	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111130	81111130	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:81111130G>T	ENST00000228644.3	+	1	440	c.288G>T	c.(286-288)ctG>ctT	p.L96L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	96	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.L96L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGAGGCGCCTGAAGAAGGTCA	0.602																																						uc001szg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(286-288)CTG>CTT		myogenic factor 5							54.0	49.0	51.0					12																	81111130		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111130G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.288G>T	12.37:g.81111130G>T							p.L96L	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	423	+			96			Helix-loop-helix motif.		Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.288G>T	CCDS9020.1																																																																																				PASS	0.602	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		5	21	5	21	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83324281	83324281	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:83324281G>T	ENST00000321196.3	+	4	2262	c.1555G>T	c.(1555-1557)Gct>Tct	p.A519S	TMTC2_ENST00000548305.1_Missense_Mutation_p.A519S|TMTC2_ENST00000549919.1_Missense_Mutation_p.A513S	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	519					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A519S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTATAGAAATGCTTTGTACTA	0.423																																						uc001szt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1555-1557)GCT>TCT		transmembrane and tetratricopeptide repeat							151.0	133.0	139.0					12																	83324281		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83324281G>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1555G>T	12.37:g.83324281G>T	ENSP00000322300:p.Ala519Ser					TMTC2_uc001szr.1_Missense_Mutation_p.A519S|TMTC2_uc001szs.1_Missense_Mutation_p.A519S|TMTC2_uc010suk.1_Missense_Mutation_p.A274S	p.A519S	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			4	1987	+			519			TPR 2.		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1555G>T	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419105	0.83559	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.80824	-0.74;-1.42;-0.74	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096119	0.64402	D	0.000001	D	0.86435	0.5932	M	0.63843	1.955	0.80722	D	1	P;P;D	0.55605	0.775;0.763;0.972	P;P;P	0.54312	0.649;0.681;0.748	D	0.86729	0.1947	10	0.66056	D	0.02	-8.468	20.1766	0.98178	0.0:0.0:1.0:0.0	.	519;274;519	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	S	519;519;513;274	ENSP00000322300:A519S;ENSP00000448292:A519S;ENSP00000447609:A513S	ENSP00000322300:A519S	A	+	1	0	TMTC2	81848412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.318000	0.96334	2.772000	0.95346	0.655000	0.94253	GCT		PASS	0.423	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		5	45	5	45	---	---	---	---
POC1B	282809	broad.mit.edu	37	12	89818973	89818973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:89818973C>A	ENST00000313546.3	-	11	1425	c.1297G>T	c.(1297-1299)Gag>Tag	p.E433*	POC1B_ENST00000549035.1_Nonsense_Mutation_p.E391*|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000393179.4_Nonsense_Mutation_p.E303*|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000546740.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	433					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.E433*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATAATATGCTCTAAAGCATCA	0.428																																						uc001tbc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1297-1299)GAG>TAG		WD repeat domain 51B							227.0	178.0	195.0					12																	89818973		2203	4300	6503	SO:0001587	stop_gained	282809				cell projection organization	centriole|microtubule basal body		g.chr12:89818973C>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1297G>T	12.37:g.89818973C>A	ENSP00000323302:p.Glu433*					POC1B_uc001tba.2_Nonsense_Mutation_p.E391*|POC1B_uc001tbb.2_Nonsense_Mutation_p.E303*|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_RNA	p.E433*	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN			11	1402	-			433			Potential.		G3V1X0	Nonsense_Mutation	SNP	ENST00000313546.3	37	c.1297G>T	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	C	38	7.109534	0.98070	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	.	.	.	5.8	5.8	0.92144	.	0.117717	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.5467	0.76108	0.0:1.0:0.0:0.0	.	.	.	.	X	303;433;391	.	ENSP00000323302:E433X	E	-	1	0	POC1B	88343104	1.000000	0.71417	0.960000	0.40013	0.167000	0.22549	4.420000	0.59841	2.729000	0.93468	0.563000	0.77884	GAG		PASS	0.428	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		8	123	8	123	---	---	---	---
EEA1	8411	broad.mit.edu	37	12	93251254	93251254	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:93251254C>A	ENST00000322349.8	-	4	517	c.253G>T	c.(253-255)Gta>Tta	p.V85L	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	85					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.V85L(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGCAGTGTTACATCATCTCTA	0.308																																						uc001tck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(253-255)GTA>TTA		early endosome antigen 1, 162kD							102.0	113.0	109.0					12																	93251254		2203	4288	6491	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93251254C>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.253G>T	12.37:g.93251254C>A	ENSP00000317955:p.Val85Leu						p.V85L	NM_003566	NP_003557	Q15075	EEA1_HUMAN			4	518	-			85			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.253G>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	5.173	0.217528	0.09810	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.64260	-0.09	5.22	-1.76	0.08006	.	0.254426	0.26574	N	0.023605	T	0.34629	0.0904	L	0.28740	0.885	0.39830	D	0.972954	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	10	0.07325	T	0.83	.	2.0102	0.03486	0.142:0.4017:0.1435:0.3128	.	85	Q15075	EEA1_HUMAN	L	85;84	ENSP00000317955:V85L	ENSP00000317955:V85L	V	-	1	0	EEA1	91775385	0.242000	0.23868	0.946000	0.38457	0.612000	0.37316	0.058000	0.14301	-0.253000	0.09514	-1.224000	0.01588	GTA		PASS	0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		8	245	8	245	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99076989	99076989	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:99076989C>T	ENST00000551964.1	+	15	2851	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.C705C|APAF1_ENST00000549007.1_Silent_p.C705C|APAF1_ENST00000357310.1_Silent_p.C705C|APAF1_ENST00000547045.1_Silent_p.C705C|APAF1_ENST00000550527.1_Silent_p.C694C|APAF1_ENST00000359972.2_Silent_p.C694C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	705					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.C705C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCAATTGCTGCCATTTCACCA	0.373																																						uc001tfz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(2113-2115)TGC>TGT		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						178.0	152.0	161.0					12																	99076989		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99076989C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2115C>T	12.37:g.99076989C>T						APAF1_uc001tfy.2_Silent_p.C694C|APAF1_uc001tga.2_Silent_p.C694C|APAF1_uc001tgb.2_Silent_p.C705C|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.C114C	p.C705C	NM_181861	NP_863651	O14727	APAF_HUMAN			15	2692	+			705			WD 3.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.2115C>T	CCDS9069.1																																																																																				PASS	0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		11	72	11	72	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104097053	104097053	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:104097053G>T	ENST00000388887.2	+	35	4046	c.3842G>T	c.(3841-3843)cGa>cTa	p.R1281L		NM_017564.9	NP_060034.9			stabilin 2									p.R1281L(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						ACTATTATACGAGTAAGTTCT	0.368																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(3841-3843)CGA>CTA		stabilin 2 precursor							86.0	84.0	85.0					12																	104097053		2203	4300	6503	SO:0001630	splice_region_variant	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.chr12:104097053G>T	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.3843+1G>T	12.37:g.104097053G>T							p.R1281L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			35	4028	+			1281			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.3842G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583373	0.28268	.	.	ENSG00000136011	ENST00000388887	T	0.64438	-0.1	5.8	-1.55	0.08558	Growth factor, receptor (1);	1.010480	0.07939	N	0.978884	T	0.45276	0.1334	L	0.39566	1.225	0.09310	N	0.999994	B	0.11235	0.004	B	0.08055	0.003	T	0.21930	-1.0231	10	0.30078	T	0.28	.	1.9916	0.03448	0.3951:0.2111:0.2861:0.1077	.	1281	Q8WWQ8	STAB2_HUMAN	L	1281	ENSP00000373539:R1281L	ENSP00000373539:R1281L	R	+	2	0	STAB2	102621183	0.000000	0.05858	0.023000	0.16930	0.714000	0.41099	-1.512000	0.02258	-0.643000	0.05473	0.591000	0.81541	CGA		PASS	0.368	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Missense_Mutation	5	79	5	79	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105597489	105597489	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:105597489C>A	ENST00000258530.3	-	9	921	c.696G>T	c.(694-696)atG>atT	p.M232I	APPL2_ENST00000539978.2_Missense_Mutation_p.M189I|APPL2_ENST00000551662.1_Missense_Mutation_p.M238I|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.M232I(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCTTTGAACCATGTCTGCAA	0.448																																						uc001tlf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(694-696)ATG>ATT		adaptor protein, phosphotyrosine interaction, PH							169.0	170.0	170.0					12																	105597489		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105597489C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.696G>T	12.37:g.105597489C>A	ENSP00000258530:p.Met232Ile					APPL2_uc010swt.1_Missense_Mutation_p.M189I|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M238I|APPL2_uc009zuq.2_Missense_Mutation_p.M189I	p.M232I	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			9	914	-			232			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.696G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847119	0.91277	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.04083	3.71;3.71;3.71	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	M	0.67953	2.075	0.80722	D	1	P;P;P	0.51791	0.948;0.593;0.828	P;B;B	0.47430	0.547;0.154;0.254	T	0.00819	-1.1553	10	0.45353	T	0.12	-30.1684	17.7181	0.88343	0.0:1.0:0.0:0.0	.	238;189;232	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	232;189;238	ENSP00000258530:M232I;ENSP00000444472:M189I;ENSP00000446917:M238I	ENSP00000258530:M232I	M	-	3	0	APPL2	104121619	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.125000	0.77193	2.620000	0.88729	0.655000	0.94253	ATG		PASS	0.448	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		9	135	9	135	---	---	---	---
RIC8B	55188	broad.mit.edu	37	12	107236523	107236523	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:107236523C>A	ENST00000392839.2	+	5	1099	c.993C>A	c.(991-993)acC>acA	p.T331T	RIC8B_ENST00000355478.2_Silent_p.T291T|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Silent_p.T331T	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	331					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.T331T(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AAAACAATACCATGGTATACA	0.398																																						uc001tlx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(991-993)ACC>ACA		resistance to inhibitors of cholinesterase 8							111.0	110.0	110.0					12																	107236523		2203	4300	6503	SO:0001819	synonymous_variant	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107236523C>A	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.993C>A	12.37:g.107236523C>A						RIC8B_uc001tlw.2_Silent_p.T331T|RIC8B_uc001tly.2_Silent_p.T291T|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.T331T	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			5	1118	+			331					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	ENST00000392839.2	37	c.993C>A	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	C	6.527	0.465412	0.12402	.	.	ENSG00000111785	ENST00000548914	.	.	.	5.51	4.62	0.57501	.	.	.	.	.	T	0.60663	0.2286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58662	-0.7597	4	.	.	.	0.1885	10.0984	0.42488	0.0:0.9082:0.0:0.0918	.	.	.	.	Q	156	.	.	P	+	2	0	RIC8B	105760653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.583000	0.46094	1.337000	0.45525	0.655000	0.94253	CCA		PASS	0.398	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		6	54	6	54	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109637324	109637324	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:109637324C>T	ENST00000338432.7	+	18	2864	c.2745C>T	c.(2743-2745)caC>caT	p.H915H	ACACB_ENST00000377854.5_Silent_p.H915H|ACACB_ENST00000377848.3_Silent_p.H915H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	915	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.H915H(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATGGGGGCCACGTTGAGGCTG	0.572																																						uc001tob.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2743-2745)CAC>CAT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						95.0	94.0	94.0					12																	109637324		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109637324C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2745C>T	12.37:g.109637324C>T						ACACB_uc001toc.2_Silent_p.H915H	p.H915H	NM_001093	NP_001084	O00763	ACACB_HUMAN			18	2864	+			915			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2745C>T	CCDS31898.1																																																																																				PASS	0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		14	34	14	34	---	---	---	---
SDS	10993	broad.mit.edu	37	12	113830792	113830792	+	Missense_Mutation	SNP	C	C	G	rs371260220		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:113830792C>G	ENST00000257549.4	-	8	1063	c.941G>C	c.(940-942)cGg>cCg	p.R314P		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	314					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R314P(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CTTGAGCGCCCGCAGCTGGGC	0.622																																						uc001tvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(940-942)CGG>CCG		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						117.0	126.0	123.0					12																	113830792		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113830792C>G	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.941G>C	12.37:g.113830792C>G	ENSP00000257549:p.Arg314Pro						p.R314P	NM_006843	NP_006834	P20132	SDHL_HUMAN			8	1063	-			314					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.941G>C	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799269	0.31869	.	.	ENSG00000135094	ENST00000257549	.	.	.	4.49	-5.82	0.02333	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	1.676980	0.03369	N	0.198676	T	0.28333	0.0700	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29336	-1.0015	9	0.87932	D	0	-0.2977	4.0662	0.09861	0.1051:0.2286:0.1048:0.5614	.	314	P20132	SDHL_HUMAN	P	314	.	ENSP00000257549:R314P	R	-	2	0	SDS	112315175	0.000000	0.05858	0.014000	0.15608	0.805000	0.45488	-2.263000	0.01174	-1.123000	0.02940	0.561000	0.74099	CGG		PASS	0.622	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		4	86	4	86	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115118836	115118836	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:115118836G>T	ENST00000257566.3	-	2	894	c.505C>A	c.(505-507)Cgg>Agg	p.R169R	TBX3_ENST00000349155.2_Silent_p.R169R	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	169					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R169R(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACCATCCACCGAGAATTGTGA	0.453																																						uc001tvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(505-507)CGG>AGG		T-box 3 protein isoform 2							113.0	115.0	114.0					12																	115118836		2203	4300	6503	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115118836G>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.505C>A	12.37:g.115118836G>T						TBX3_uc001tvu.1_Silent_p.R169R|TBX3_uc010syw.1_Silent_p.R169R	p.R169R	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1469	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		169			T-box; first part.		Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.505C>A	CCDS9176.1																																																																																				PASS	0.453	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		5	102	5	102	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017127	121017127	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:121017127C>A	ENST00000357500.4	-	5	521	c.486G>T	c.(484-486)atG>atT	p.M162I	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_Missense_Mutation_p.M112I	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	162					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)	p.M162I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					AGGTTCACTCCATTGCTTCTG	0.532																																						uc001tys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)ATG>ATT		processing of precursor 5 isoform a							100.0	99.0	99.0					12																	121017127		2203	4300	6503	SO:0001583	missense	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017127C>A	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.486G>T	12.37:g.121017127C>A	ENSP00000350098:p.Met162Ile					POP5_uc001tyt.2_Missense_Mutation_p.M112I	p.M162I	NM_015918	NP_057002	Q969H6	POP5_HUMAN			5	518	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		162					A6NL80|Q53FS5|Q9Y2Q6	Missense_Mutation	SNP	ENST00000357500.4	37	c.486G>T	CCDS9202.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461668	0.43736	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	5.71	2.69	0.31865	.	0.259771	0.34338	N	0.004045	T	0.36468	0.0968	L	0.44542	1.39	0.26245	N	0.9788	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	9	0.87932	D	0	-16.4799	7.3247	0.26549	0.0:0.5865:0.326:0.0875	.	112;162	A6NL80;Q969H6	.;POP5_HUMAN	I	112;162	.	ENSP00000341791:M112I	M	-	3	0	POP5	119501510	0.319000	0.24607	0.968000	0.41197	0.689000	0.40095	0.102000	0.15272	0.742000	0.32697	-0.140000	0.14226	ATG		PASS	0.532	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		6	49	6	49	---	---	---	---
ANAPC5	51433	broad.mit.edu	37	12	121775156	121775156	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:121775156G>T	ENST00000261819.3	-	6	818	c.697C>A	c.(697-699)Cca>Aca	p.P233T	ANAPC5_ENST00000536366.1_Missense_Mutation_p.P112T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P134T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P134T|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P233T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.P233T(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGGAAGCTGGAGTGAGGGCC	0.358																																						uc001uag.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|kidney(1)	6						c.(697-699)CCA>ACA		anaphase-promoting complex subunit 5 isoform a							90.0	91.0	91.0					12																	121775156		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121775156G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.697C>A	12.37:g.121775156G>T	ENSP00000261819:p.Pro233Thr					ANAPC5_uc001uae.2_5'Flank|ANAPC5_uc010szv.1_5'Flank|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.P134T|ANAPC5_uc001uai.1_5'UTR	p.P233T	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN			6	819	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		233					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.697C>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779265	0.90195	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.80754	-0.1241	10	0.87932	D	0	.	20.0627	0.97684	0.0:0.0:1.0:0.0	.	134;233	E9PFB2;Q9UJX4	.;APC5_HUMAN	T	134;233;233;134;112;134	ENSP00000415061:P134T;ENSP00000439875:P233T;ENSP00000261819:P233T;ENSP00000343787:P134T;ENSP00000445310:P112T;ENSP00000440800:P134T	ENSP00000261819:P233T	P	-	1	0	ANAPC5	120259539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.078000	0.94023	2.816000	0.96949	0.563000	0.77884	CCA		PASS	0.358	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			8	122	8	122	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123780467	123780467	+	Missense_Mutation	SNP	C	C	A	rs367778431		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:123780467C>A	ENST00000602398.1	-	32	4297	c.4170G>T	c.(4168-4170)ttG>ttT	p.L1390F	SBNO1_ENST00000420886.2_Missense_Mutation_p.L1390F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L1389F|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1389F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1390					regulation of transcription, DNA-templated (GO:0006355)			p.L1389F(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATGCGTTGCTCAAGTTGGTGA	0.428																																						uc010tap.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4168-4170)TTG>TTT		sno, strawberry notch homolog 1							436.0	397.0	411.0					12																	123780467		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780467C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4170G>T	12.37:g.123780467C>A	ENSP00000473665:p.Leu1390Phe					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.L1389F|SBNO1_uc010taq.1_Missense_Mutation_p.L341F	p.L1390F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4170	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1390					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4170G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310256	0.23821	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.33438	1.41;1.41	5.89	5.0	0.66597	.	0.281397	0.30850	N	0.008751	T	0.16257	0.0391	N	0.03608	-0.345	0.28305	N	0.92296	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09509	-1.0671	10	0.36615	T	0.2	-5.4402	15.4844	0.75555	0.0:0.5814:0.4186:0.0	.	1390;1389	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	1390;1389	ENSP00000387361:L1390F;ENSP00000267176:L1389F	ENSP00000267176:L1389F	L	-	3	2	SBNO1	122346420	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	0.461000	0.21940	1.484000	0.48361	0.561000	0.74099	TTG		PASS	0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		11	241	11	241	---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133198319	133198319	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:133198319G>T	ENST00000389110.3	+	11	1214	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Missense_Mutation_p.V369L|P2RX2_ENST00000343948.4_Missense_Mutation_p.V419L|P2RX2_ENST00000352418.4_Missense_Mutation_p.V321L|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000351222.4_Missense_Mutation_p.V301L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	393					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.V419L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TAGCTGGCCTGTGACCCTTGC	0.592																																						uc001ukj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)GTG>TTG		purinergic receptor P2X2 isoform A							66.0	64.0	65.0					12																	133198319		2202	4300	6502	SO:0001583	missense	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133198319G>T	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1177G>T	12.37:g.133198319G>T	ENSP00000373762:p.Val393Leu					P2RX2_uc001uki.1_Intron|P2RX2_uc001ukk.1_Missense_Mutation_p.V419L|P2RX2_uc001ukl.1_Missense_Mutation_p.V369L|P2RX2_uc001ukm.1_Missense_Mutation_p.V321L|P2RX2_uc001ukn.1_Missense_Mutation_p.V301L|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron	p.V393L	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	11	1177	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	393			Cytoplasmic (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.1177G>T	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	G	7.119	0.577556	0.13686	.	.	ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222	T;T;T;T;T	0.06528	3.63;3.29;3.37;3.5;3.38	4.1	2.21	0.28008	.	0.747973	0.12134	N	0.496461	T	0.03564	0.0102	N	0.17082	0.46	0.80722	D	1	B;B;B;B;B	0.11235	0.0;0.001;0.002;0.004;0.001	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.006;0.002	T	0.31888	-0.9927	10	0.06365	T	0.9	-18.663	8.1003	0.30852	0.0:0.1742:0.6451:0.1806	.	301;321;369;419;393	Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9	.;.;.;.;P2RX2_HUMAN	L	393;419;321;369;301	ENSP00000373762:V393L;ENSP00000343339:V419L;ENSP00000341419:V321L;ENSP00000343904:V369L;ENSP00000344502:V301L	ENSP00000343339:V419L	V	+	1	0	P2RX2	131708392	0.567000	0.26626	0.980000	0.43619	0.253000	0.25986	0.560000	0.23500	0.474000	0.27392	-0.467000	0.05162	GTG		PASS	0.592	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			4	21	4	21	---	---	---	---
SGCG	6445	broad.mit.edu	37	13	23853520	23853520	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:23853520G>C	ENST00000218867.3	+	5	532	c.408G>C	c.(406-408)caG>caC	p.Q136H	SGCG_ENST00000537476.1_Missense_Mutation_p.Q136H|SGCG_ENST00000545013.1_Missense_Mutation_p.Q136H	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	136					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.Q136H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TAGAAGTCCAGAATCAACAGT	0.388																																						uc001uom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CAG>CAC		gamma sarcoglycan							107.0	100.0	103.0					13																	23853520		2203	4300	6503	SO:0001583	missense	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23853520G>C	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.408G>C	13.37:g.23853520G>C	ENSP00000218867:p.Gln136His					SGCG_uc009zzv.2_Missense_Mutation_p.Q136H|SGCG_uc009zzw.2_Missense_Mutation_p.Q136H	p.Q136H	NM_000231	NP_000222	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	5	563	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	136			Extracellular (Potential).		Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	c.408G>C	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	G	5.542	0.284894	0.10513	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94576	-3.46;-3.46;-3.46	5.28	2.43	0.29744	.	0.254659	0.45361	N	0.000364	D	0.84556	0.5498	N	0.19112	0.55	0.31886	N	0.61784	B	0.02656	0.0	B	0.04013	0.001	T	0.72523	-0.4267	10	0.13470	T	0.59	.	2.3984	0.04395	0.0932:0.2151:0.3313:0.3603	.	136	Q13326	SGCG_HUMAN	H	136	ENSP00000218867:Q136H;ENSP00000444100:Q136H;ENSP00000442232:Q136H	ENSP00000218867:Q136H	Q	+	3	2	SGCG	22751520	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	0.565000	0.23578	0.593000	0.29745	0.586000	0.80456	CAG		PASS	0.388	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		5	23	5	23	---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24443477	24443477	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:24443477G>T	ENST00000382172.3	-	7	995	c.897C>A	c.(895-897)tcC>tcA	p.S299S		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	299					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S299S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GAGAAAACGTGGAATACCCCA	0.388																																						uc001uox.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(895-897)TCC>TCA		mitochondrial intermediate peptidase precursor							107.0	109.0	108.0					13																	24443477		2203	4300	6503	SO:0001819	synonymous_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24443477G>T		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.897C>A	13.37:g.24443477G>T							p.S299S	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	7	997	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	299					Q5JV15|Q5T9Q9|Q96G65	Silent	SNP	ENST00000382172.3	37	c.897C>A	CCDS9303.1																																																																																				PASS	0.388	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			7	92	7	92	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25027743	25027743	+	Missense_Mutation	SNP	C	C	A	rs386769073		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:25027743C>A	ENST00000381989.3	-	23	2913	c.2808G>T	c.(2806-2808)atG>atT	p.M936I	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	936	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.			M -> A (in Ref. 2; AAC62491 and 3; BAA11494). {ECO:0000305}.|M -> T (in Ref. 1; AAD47250). {ECO:0000305}.	cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M936I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACTCTGCTGCCATGGTATTGC	0.478																																						uc001upl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2806-2808)ATG>ATT		poly (ADP-ribose) polymerase family, member 4							270.0	212.0	231.0					13																	25027743		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25027743C>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2808G>T	13.37:g.25027743C>A	ENSP00000371419:p.Met936Ile					PARP4_uc010tdc.1_Missense_Mutation_p.M936I	p.M936I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	23	2914	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	936	M -> A (in Ref. 2; AAC62491 and 3; BAA11494).|M -> T (in Ref. 1; AAD47250).		VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2808G>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	4.797	0.148105	0.09134	.	.	ENSG00000102699	ENST00000381989	T	0.07021	3.23	4.29	-0.432	0.12291	von Willebrand factor, type A (3);	1.850880	0.02221	N	0.063999	T	0.07548	0.0190	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.36744	-0.9735	10	0.28530	T	0.3	0.2561	7.0386	0.25006	0.0:0.4494:0.0:0.5506	.	936	Q9UKK3	PARP4_HUMAN	I	936	ENSP00000371419:M936I	ENSP00000371419:M936I	M	-	3	0	PARP4	23925743	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.505000	0.02273	-0.024000	0.13941	-0.291000	0.09656	ATG		PASS	0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		4	57	4	57	---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333755	27333755	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:27333755G>A	ENST00000381436.2	-	1	672	c.210C>T	c.(208-210)ttC>ttT	p.F70F	GPR12_ENST00000405846.3_Silent_p.F70F			P47775	GPR12_HUMAN	G protein-coupled receptor 12	70					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.F70F(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGGGTTGTGGAAGATGATAA	0.532																																						uc010aal.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)TTC>TTT		G protein-coupled receptor 12							100.0	99.0	99.0					13																	27333755		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333755G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.210C>T	13.37:g.27333755G>A						GPR12_uc010tdl.1_Intron	p.F70F	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	432	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	70			Cytoplasmic (Potential).		Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.210C>T	CCDS9319.1																																																																																				PASS	0.532	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			13	33	13	33	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28599066	28599066	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:28599066C>A	ENST00000241453.7	-	18	2303	c.2222G>T	c.(2221-2223)aGa>aTa	p.R741I	FLT3_ENST00000537084.1_Missense_Mutation_p.R741I|FLT3_ENST00000380982.4_Missense_Mutation_p.R741I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R741I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAACTTCTCTTGAACCAGG	0.303			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2221-2223)AGA>ATA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						110.0	118.0	115.0					13																	28599066		2202	4300	6502	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28599066C>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2222G>T	13.37:g.28599066C>A	ENSP00000241453:p.Arg741Ile					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R741I	p.R741I	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	18	2304	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	741			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2222G>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.787006	0.31593	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78364	-1.11;-1.17;-0.91	5.67	3.94	0.45596	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.331850	0.30464	N	0.009570	T	0.65770	0.2723	N	0.25890	0.77	0.46609	D	0.999128	B;B	0.33477	0.205;0.413	B;B	0.37989	0.116;0.262	T	0.64032	-0.6502	10	0.42905	T	0.14	.	7.7817	0.29068	0.0:0.8169:0.0:0.1831	.	741;741	P36888-2;P36888	.;FLT3_HUMAN	I	741	ENSP00000241453:R741I;ENSP00000370369:R741I;ENSP00000438139:R741I	ENSP00000241453:R741I	R	-	2	0	FLT3	27497066	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	1.374000	0.34283	1.403000	0.46800	0.555000	0.69702	AGA		PASS	0.303	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			9	155	9	155	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28624272	28624272	+	Silent	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:28624272T>C	ENST00000241453.7	-	6	783	c.702A>G	c.(700-702)agA>agG	p.R234R	FLT3_ENST00000537084.1_Silent_p.R234R|FLT3_ENST00000380982.4_Silent_p.R234R	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	234					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R234R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGTTCATTTCTGGCACAGC	0.413			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(700-702)AGA>AGG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						169.0	144.0	152.0					13																	28624272		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28624272T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.702A>G	13.37:g.28624272T>C						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R234R	p.R234R	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	6	784	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	234			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.702A>G	CCDS31953.1																																																																																				PASS	0.413	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			16	68	16	68	---	---	---	---
EPSTI1	94240	broad.mit.edu	37	13	43528111	43528111	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:43528111C>A	ENST00000398762.3	-	6	535	c.536G>T	c.(535-537)aGa>aTa	p.R179I	EPSTI1_ENST00000313640.7_Missense_Mutation_p.R179I|EPSTI1_ENST00000313624.7_Missense_Mutation_p.R179I|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	179								p.R179I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AAATGCTTCTCTTCTAAGGTT	0.333																																						uc001uyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)AGA>ATA		epithelial stromal interaction 1 isoform 1							188.0	164.0	172.0					13																	43528111		2203	4298	6501	SO:0001583	missense	94240							g.chr13:43528111C>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.536G>T	13.37:g.43528111C>A	ENSP00000381746:p.Arg179Ile					EPSTI1_uc001uyx.1_Missense_Mutation_p.R179I	p.R179I	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	6	612	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	179			Potential.		Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.536G>T	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282105	0.59867	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.22336	1.96	4.85	4.0	0.46444	.	0.061488	0.64402	D	0.000008	T	0.41026	0.1141	M	0.65975	2.015	0.43114	D	0.994823	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.08827	-1.0703	10	0.39692	T	0.17	-14.1201	11.9027	0.52692	0.0:0.9131:0.0:0.0869	.	179;179	Q96J88-2;Q96J88-3	.;.	I	179;179;179;52	ENSP00000318982:R179I	ENSP00000318643:R179I	R	-	2	0	EPSTI1	42426111	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	1.173000	0.31920	2.677000	0.91161	0.650000	0.86243	AGA		PASS	0.333	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		6	49	6	49	---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50306786	50306786	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:50306786G>T	ENST00000261667.3	-	5	656	c.242C>A	c.(241-243)aCa>aAa	p.T81K		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	81					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.T81K(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTTATCACTTGTGGCATTCTG	0.338																																						uc001vdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)ACA>AAA		karyopherin alpha 3							92.0	99.0	97.0					13																	50306786		2203	4300	6503	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50306786G>T	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.242C>A	13.37:g.50306786G>T	ENSP00000261667:p.Thr81Lys						p.T81K	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	5	657	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	81			ARM 1; truncated.		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.242C>A	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	7.754	0.704016	0.15172	.	.	ENSG00000102753	ENST00000261667	T	0.42131	0.98	5.88	5.04	0.67666	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.03662	-1.1015	10	0.29301	T	0.29	-16.3877	15.1354	0.72562	0.0677:0.0:0.9323:0.0	.	81	O00505	IMA3_HUMAN	K	81	ENSP00000261667:T81K	ENSP00000261667:T81K	T	-	2	0	KPNA3	49204787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	1.491000	0.48482	0.650000	0.86243	ACA		PASS	0.338	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		6	128	6	128	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986230	61986230	+	Missense_Mutation	SNP	C	C	A	rs201623253	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:61986230C>A	ENST00000409186.1	-	5	4107	c.2002G>T	c.(2002-2004)Gct>Tct	p.A668S	PCDH20_ENST00000409204.4_Missense_Mutation_p.A668S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	668	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A641S(1)|p.A668S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTCGTCCAGCGTCAGCATCT	0.448																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2002-2004)GCT>TCT		protocadherin 20							93.0	91.0	92.0					13																	61986230		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986230C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2002G>T	13.37:g.61986230C>A	ENSP00000386653:p.Ala668Ser					PCDH20_uc010thj.1_Missense_Mutation_p.A668S	p.A668S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2366	-		Breast(118;0.195)|Prostate(109;0.229)	641			Cadherin 5.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2002G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	1.653	-0.513426	0.04200	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01192	5.2;5.2	5.94	4.12	0.48240	.	0.312780	0.27311	N	0.019950	T	0.00468	0.0015	N	0.01424	-0.875	0.46149	D	0.998893	B	0.13145	0.007	B	0.11329	0.006	T	0.42189	-0.9466	10	0.02654	T	1	.	5.9837	0.19421	0.2614:0.5976:0.0:0.141	.	668	A8K1K9	.	S	668;668;414	ENSP00000387250:A668S;ENSP00000386653:A668S	ENSP00000351500:A414S	A	-	1	0	PCDH20	60884231	1.000000	0.71417	0.985000	0.45067	0.771000	0.43674	1.492000	0.35594	1.523000	0.49018	0.557000	0.71058	GCT		PASS	0.448	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		6	50	6	50	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75923357	75923357	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:75923357A>T	ENST00000377636.3	-	5	1703	c.1357T>A	c.(1357-1359)Tgt>Agt	p.C453S	TBC1D4_ENST00000377625.2_Missense_Mutation_p.C453S|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C453S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	453	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.C453S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CAGGCCTCACACAGTTTAATC	0.473																																						uc001vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1357-1359)TGT>AGT		TBC1 domain family, member 4							64.0	65.0	65.0					13																	75923357		1935	4129	6064	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75923357A>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1357T>A	13.37:g.75923357A>T	ENSP00000366863:p.Cys453Ser					TBC1D4_uc010aer.2_Missense_Mutation_p.C453S|TBC1D4_uc010aes.2_Missense_Mutation_p.C453S	p.C453S	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	5	1704	-		Prostate(6;0.014)|Breast(118;0.0982)	453			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1357T>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890394	0.91889	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.53423	0.72;0.62;0.79	6.04	6.04	0.98038	.	0.146642	0.48767	D	0.000170	T	0.70675	0.3251	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	T	0.74365	-0.3689	10	0.87932	D	0	-19.094	16.5817	0.84717	1.0:0.0:0.0:0.0	.	453;453;453	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	S	453	ENSP00000366863:C453S;ENSP00000395986:C453S;ENSP00000366852:C453S	ENSP00000366852:C453S	C	-	1	0	TBC1D4	74821358	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	8.821000	0.92009	2.308000	0.77769	0.523000	0.50628	TGT		PASS	0.473	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		6	39	6	39	---	---	---	---
CLN5	1203	broad.mit.edu	37	13	77570146	77570146	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:77570146G>T	ENST00000377453.3	+	3	1888	c.596G>T	c.(595-597)cGa>cTa	p.R199L	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	150					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)	p.R199L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CCCCATCTCCGACCTGAAATG	0.428																																						uc001vkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(595-597)CGA>CTA		ceroid-lipofuscinosis, neuronal 5							185.0	166.0	173.0					13																	77570146		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570146G>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.596G>T	13.37:g.77570146G>T	ENSP00000366673:p.Arg199Leu						p.R199L	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	624	+		Acute lymphoblastic leukemia(28;0.205)	150					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.596G>T	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873567	0.72180	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.91068	-2.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.93969	0.8069	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90626	0.4563	10	0.10636	T	0.68	-12.7402	19.4882	0.95039	0.0:0.0:1.0:0.0	.	150	O75503	CLN5_HUMAN	L	199;150;65	ENSP00000366673:R199L	ENSP00000366673:R199L	R	+	2	0	CLN5	76468147	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.618000	0.88619	0.563000	0.77884	CGA		PASS	0.428	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		5	89	5	89	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77724879	77724879	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:77724879G>T	ENST00000544440.2	-	47	7024	c.7007C>A	c.(7006-7008)aCa>aAa	p.T2336K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T2336K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.T2374K					MYC binding protein 2, E3 ubiquitin protein ligase									p.T2336K(2)|p.T2374K(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)		CTTCATCATTGTTATGGCAAT	0.323																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7006-7008)ACA>AAA		MYC binding protein 2							140.0	133.0	135.0					13																	77724879		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77724879G>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.7007C>A	13.37:g.77724879G>T	ENSP00000444596:p.Thr2336Lys					MYCBP2_uc010aev.2_Missense_Mutation_p.T1740K	p.T2336K	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	48	7098	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2336			Filamin.			Missense_Mutation	SNP	ENST00000544440.2	37	c.7007C>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187443	0.78789	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34667	1.35;1.35;1.35	5.45	5.45	0.79879	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.64170	1.965	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.61671	-0.7015	10	0.87932	D	0	.	19.2961	0.94122	0.0:0.0:1.0:0.0	.	2336	O75592	MYCB2_HUMAN	K	2336;2374;2336	ENSP00000349892:T2336K;ENSP00000384288:T2374K;ENSP00000444596:T2336K	ENSP00000349892:T2336K	T	-	2	0	MYCBP2	76622880	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.397000	0.97276	2.546000	0.85860	0.650000	0.86243	ACA		PASS	0.323	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		6	69	6	69	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102105224	102105224	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:102105224T>C	ENST00000376180.3	+	1	259	c.40T>C	c.(40-42)Tcc>Ccc	p.S14P	ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	14					cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.S14P(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGCTGGCGTCCTCCCTTCT	0.567																																						uc001vpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)TCC>CCC		integrin, beta-like 1 (with EGF-like repeat							204.0	170.0	182.0					13																	102105224		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102105224T>C	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.40T>C	13.37:g.102105224T>C	ENSP00000365351:p.Ser14Pro					ITGBL1_uc010agb.2_Missense_Mutation_p.S14P|ITGBL1_uc001vpc.3_5'UTR	p.S14P	NM_004791	NP_004782	O95965	ITGBL_HUMAN			1	259	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		14					A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.40T>C	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660940	0.29515	.	.	ENSG00000198542	ENST00000376180	T	0.80480	-1.38	5.53	3.05	0.35203	.	0.426796	0.26776	N	0.022542	T	0.73194	0.3556	L	0.57536	1.79	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.61594	-0.7031	10	0.40728	T	0.16	.	6.7063	0.23252	0.0:0.1386:0.1292:0.7322	.	14	O95965	ITGBL_HUMAN	P	14	ENSP00000365351:S14P	ENSP00000365351:S14P	S	+	1	0	ITGBL1	100903225	0.006000	0.16342	0.001000	0.08648	0.689000	0.40095	1.453000	0.35167	0.376000	0.24707	0.460000	0.39030	TCC		PASS	0.567	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		3	60	3	60	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107165088	107165088	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:107165088C>A	ENST00000245323.4	-	2	344	c.195G>T	c.(193-195)gtG>gtT	p.V65V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	65	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)	p.V65V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTTTAGAGTCCACTTTGGGGC	0.368																																						uc001vqi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)GTG>GTT		ephrin B2 precursor							120.0	125.0	124.0					13																	107165088		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107165088C>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.195G>T	13.37:g.107165088C>A							p.V65V	NM_004093	NP_004084	P52799	EFNB2_HUMAN			2	220	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		65			Extracellular (Potential).		Q5JV56	Silent	SNP	ENST00000245323.4	37	c.195G>T	CCDS9507.1																																																																																				PASS	0.368	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		7	117	7	117	---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111340110	111340110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr13:111340110C>A	ENST00000257347.4	-	5	592	c.529G>T	c.(529-531)Gaa>Taa	p.E177*	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	177					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)	p.E177*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ATGATTCCTTCAATGAAAGAA	0.403																																						uc001vrd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(529-531)GAA>TAA		cysteinyl-tRNA synthetase 2, mitochondrial	L-Cysteine(DB00151)						183.0	195.0	191.0					13																	111340110		2203	4300	6503	SO:0001587	stop_gained	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340110C>A	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.529G>T	13.37:g.111340110C>A	ENSP00000257347:p.Glu177*					CARS2_uc010tjm.1_RNA	p.E177*	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	569	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		177					Q8NI84|Q96IV4	Nonsense_Mutation	SNP	ENST00000257347.4	37	c.529G>T	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368766	0.24771	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	.	.	.	4.71	0.671	0.17929	.	0.385993	0.26003	N	0.026930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4627	10.7633	0.46277	0.0:0.4234:0.4994:0.0772	.	.	.	.	X	177;168	.	ENSP00000257347:E177X	E	-	1	0	CARS2	110138111	0.837000	0.29446	0.000000	0.03702	0.015000	0.08874	1.404000	0.34623	-0.140000	0.11394	0.557000	0.71058	GAA		PASS	0.403	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		11	230	11	230	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389679	20389679	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:20389679A>C	ENST00000315915.4	+	1	939	c.914A>C	c.(913-915)tAc>tCc	p.Y305S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y305S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGAACCATTACCTGAGGCCA	0.388																																						uc010tkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(913-915)TAC>TCC		olfactory receptor, family 4, subfamily K,							95.0	107.0	103.0					14																	20389679		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389679A>C	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.914A>C	14.37:g.20389679A>C	ENSP00000319511:p.Tyr305Ser						p.Y305S	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	914	+	all_cancers(95;0.00108)		305			Cytoplasmic (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.914A>C	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	3.778	-0.046202	0.07407	.	.	ENSG00000176281	ENST00000315915	T	0.35973	1.28	3.99	3.99	0.46301	.	0.437819	0.17573	N	0.169400	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.19391	0.025	T	0.08973	-1.0696	10	0.41790	T	0.15	.	5.9226	0.19091	0.8814:0.0:0.1186:0.0	.	305	Q8NGD3	OR4K5_HUMAN	S	305	ENSP00000319511:Y305S	ENSP00000319511:Y305S	Y	+	2	0	OR4K5	19459519	0.106000	0.21978	0.012000	0.15200	0.077000	0.17291	3.612000	0.54142	1.656000	0.50722	0.528000	0.53228	TAC		PASS	0.388	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		42	67	42	67	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21834657	21834657	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:21834657G>T	ENST00000216297.2	-	8	1325	c.987C>A	c.(985-987)gtC>gtA	p.V329V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	329					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V329V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCACGTCCATGACAGCGTTAT	0.348																																						uc001wao.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(985-987)GTC>GTA		chromatin-specific transcription elongation							229.0	209.0	216.0					14																	21834657		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21834657G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.987C>A	14.37:g.21834657G>T							p.V329V	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	8	1326	-	all_cancers(95;0.00115)		329					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.987C>A	CCDS9569.1																																																																																				PASS	0.348	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			9	220	9	220	---	---	---	---
RAB2B	84932	broad.mit.edu	37	14	21931912	21931912	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:21931912C>A	ENST00000397762.1	-	6	477	c.377G>T	c.(376-378)cGc>cTc	p.R126L	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	126					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R126L(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CACATCCCTGCGGGACTCTAG	0.408																																					Melanoma(131;1007 1750 28652 34486 42672)	uc010tlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)CGC>CTC		RAB2B protein isoform 1							100.0	92.0	95.0					14																	21931912		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21931912C>A	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.377G>T	14.37:g.21931912C>A	ENSP00000380869:p.Arg126Leu					RAB2B_uc010tls.1_Missense_Mutation_p.R80L|RAB2B_uc001wax.2_Missense_Mutation_p.R61L|RAB2B_uc010ain.2_Missense_Mutation_p.R17L	p.R126L	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	6	478	-	all_cancers(95;0.000858)		126					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.377G>T	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993267	0.74703	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.76968	-1.06	5.86	4.89	0.63831	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	T	0.49949	0.1587	N	0.00991	-1.07	0.42316	D	0.992236	B;B;B	0.24092	0.005;0.097;0.008	B;B;B	0.28709	0.011;0.093;0.03	T	0.49409	-0.8943	10	0.25751	T	0.34	.	10.6189	0.45467	0.0:0.8333:0.0:0.1667	.	126;80;61	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	L	126	ENSP00000380869:R126L	ENSP00000302005:R126L	R	-	2	0	RAB2B	21001752	1.000000	0.71417	0.871000	0.34182	0.950000	0.60333	4.373000	0.59537	1.318000	0.45170	0.655000	0.94253	CGC		PASS	0.408	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			49	66	49	66	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746063	23746063	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:23746063C>A	ENST00000357460.5	-	2	538	c.374G>T	c.(373-375)cGa>cTa	p.R125L	HOMEZ_ENST00000431326.2_Missense_Mutation_p.R127L|HOMEZ_ENST00000561013.1_Missense_Mutation_p.R127L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R125L(1)|p.R101L(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTAGACTACTCGGGCTCGAGT	0.532																																						uc001wja.2																			2	Substitution - Missense(2)		lung(2)		0						c.(373-375)CGA>CTA		homeodomain leucine zipper protein							134.0	134.0	134.0					14																	23746063		1894	4098	5992	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746063C>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.374G>T	14.37:g.23746063C>A	ENSP00000350049:p.Arg125Leu					HOMEZ_uc001wjb.2_Missense_Mutation_p.R127L	p.R125L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	522	-	all_cancers(95;5.54e-06)		125					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.374G>T	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842643	0.71488	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.27557	1.66;1.66	6.17	6.17	0.99709	.	0.064498	0.64402	D	0.000015	T	0.53142	0.1778	L	0.50333	1.59	0.37819	D	0.928303	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.52518	-0.8565	10	0.72032	D	0.01	-8.0241	19.6509	0.95805	0.0:1.0:0.0:0.0	.	127;125	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	L	125;127	ENSP00000350049:R125L;ENSP00000406579:R127L	ENSP00000350049:R125L	R	-	2	0	HOMEZ	22815903	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.138000	0.42140	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.532	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		6	98	6	98	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237481	29237481	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:29237481G>A	ENST00000313071.4	+	1	1195	c.996G>A	c.(994-996)tcG>tcA	p.S332S	RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Silent_p.S332S|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	332					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCACCACGTCGGCCTACCCCA	0.652																																						uc001wqe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(994-996)TCG>TCA		forkhead box G1							107.0	106.0	106.0					14																	29237481		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237481G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.996G>A	14.37:g.29237481G>A							p.S332S	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1195	+			332					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.996G>A	CCDS9636.1																																																																																				PASS	0.652	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			15	38	15	38	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31085736	31085736	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:31085736A>G	ENST00000206595.6	+	15	2271	c.2117A>G	c.(2116-2118)cAt>cGt	p.H706R	G2E3_ENST00000553504.1_Missense_Mutation_p.H736R|G2E3_ENST00000438909.2_Missense_Mutation_p.H660R	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	706					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H706R(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATTGGACATTAAAATGTT	0.313																																						uc001wqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2116-2118)CAT>CGT		G2/M-phase specific E3 ubiquitin ligase							37.0	38.0	38.0					14																	31085736		2196	4292	6488	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31085736A>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.2117A>G	14.37:g.31085736A>G	ENSP00000206595:p.His706Arg					G2E3_uc010tpf.1_Missense_Mutation_p.H660R|G2E3_uc001wql.1_Missense_Mutation_p.H218R	p.H706R	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			15	2271	+			706					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.2117A>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	9.707	1.156122	0.21454	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.80304	-1.36;0.96;-0.8	5.39	1.68	0.24146	.	1.223500	0.05645	N	0.584175	T	0.58779	0.2146	N	0.03608	-0.345	0.22142	N	0.999337	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.51585	-0.8687	10	0.72032	D	0.01	-2.334	2.0073	0.03480	0.5624:0.1659:0.1498:0.1219	.	218;706	Q49AD9;Q7L622	.;G2E3_HUMAN	R	706;660;736	ENSP00000206595:H706R;ENSP00000391068:H660R;ENSP00000451653:H736R	ENSP00000206595:H706R	H	+	2	0	G2E3	30155487	0.190000	0.23276	0.904000	0.35570	0.275000	0.26752	-0.060000	0.11712	0.385000	0.24970	0.482000	0.46254	CAT		PASS	0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		31	59	31	59	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31578712	31578712	+	Missense_Mutation	SNP	C	C	A	rs376151633		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:31578712C>A	ENST00000399332.1	-	36	6859	c.6371G>T	c.(6370-6372)cGa>cTa	p.R2124L	HECTD1_ENST00000553700.1_Missense_Mutation_p.R2124L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2124					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R2124L(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACGACCAACTCGAAACTCTCC	0.473																																						uc001wrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(6370-6372)CGA>CTA		HECT domain containing 1							109.0	110.0	110.0					14																	31578712		2056	4206	6262	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31578712C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6371G>T	14.37:g.31578712C>A	ENSP00000382269:p.Arg2124Leu					HECTD1_uc001wra.1_Missense_Mutation_p.R250L|HECTD1_uc001wrb.1_Missense_Mutation_p.R250L	p.R2124L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	36	6860	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2124					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6371G>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.725775|5.725775	0.96847|0.96847	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.11063	.|2.81;2.81	5.73|5.73	5.73|5.73	0.89815|0.89815	.|HECT (1);	.|0.000000	.|0.64402	.|U	.|0.000001	.|T	.|0.38852	.|0.1056	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D	.|0.60160	.|0.987	.|D	.|0.65010	.|0.931	.|T	.|0.19549	.|-1.0302	.|10	.|0.56958	.|D	.|0.05	-8.9816|-8.9816	19.8893|19.8893	0.96923|0.96923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2124	.|Q9ULT8	.|HECD1_HUMAN	X|L	490|2124;2126;2124	.|ENSP00000450697:R2124L;ENSP00000382269:R2124L	.|ENSP00000261312:R2126L	E|R	-|-	1|2	0|0	HECTD1|HECTD1	30648463|30648463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.252000|7.252000	0.78309|0.78309	2.704000|2.704000	0.92352|0.92352	0.585000|0.585000	0.79938|0.79938	GAG|CGA		PASS	0.473	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			5	57	5	57	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32560744	32560744	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:32560744G>T	ENST00000345122.3	+	2	1184	c.869G>T	c.(868-870)tGg>tTg	p.W290L	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.W290L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.W290L|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.W290L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	290	FF 1.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.W290L(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CATGCAACTTGGAAAACTGTT	0.328																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(868-870)TGG>TTG		Rho GTPase activating protein 5 isoform b							90.0	103.0	99.0					14																	32560744		2200	4293	6493	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560744G>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.869G>T	14.37:g.32560744G>T	ENSP00000371897:p.Trp290Leu					ARHGAP5_uc001wrm.2_Missense_Mutation_p.W290L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.W290L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.W290L	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1108	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		290			FF 1.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.869G>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352856	0.61293	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.64	5.64	0.86602	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.40794	-0.9544	10	0.87932	D	0	.	19.7009	0.96052	0.0:0.0:1.0:0.0	.	290;290	Q13017-2;Q13017	.;RHG05_HUMAN	L	290	ENSP00000452222:W290L;ENSP00000441692:W290L;ENSP00000371897:W290L;ENSP00000393307:W290L	ENSP00000371897:W290L	W	+	2	0	ARHGAP5	31630495	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.062000	0.89475	2.646000	0.89796	0.563000	0.77884	TGG		PASS	0.328	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		10	218	10	218	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33015639	33015639	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:33015639C>A	ENST00000280979.4	+	4	1950	c.1780C>A	c.(1780-1782)Ccg>Acg	p.P594T	AKAP6_ENST00000557272.1_Missense_Mutation_p.P594T|AKAP6_ENST00000557354.1_Missense_Mutation_p.P594T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	594					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.P594T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATCATGTCTCCGGTGCCACT	0.468																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1780-1782)CCG>ACG		A-kinase anchor protein 6							98.0	103.0	101.0					14																	33015639		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015639C>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1780C>A	14.37:g.33015639C>A	ENSP00000280979:p.Pro594Thr					AKAP6_uc010aml.2_Missense_Mutation_p.P591T	p.P594T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1950	+	Breast(36;0.0388)|Prostate(35;0.15)		594					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.1780C>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602003	0.28534	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.27557	3.29;2.03;2.03;1.66	6.11	6.11	0.99139	.	0.162754	0.44688	D	0.000429	T	0.29061	0.0722	L	0.54323	1.7	0.31138	N	0.706983	B;B	0.28713	0.22;0.22	B;B	0.26770	0.073;0.073	T	0.36986	-0.9725	10	0.87932	D	0	-2.3841	9.5328	0.39205	0.0:0.8841:0.0:0.1159	.	594;594	A7E242;Q13023	.;AKAP6_HUMAN	T	594;594;594;352	ENSP00000280979:P594T;ENSP00000450531:P594T;ENSP00000451247:P594T;ENSP00000451239:P352T	ENSP00000280979:P594T	P	+	1	0	AKAP6	32085390	0.962000	0.33011	0.901000	0.35422	0.571000	0.35966	1.625000	0.37029	2.906000	0.99361	0.655000	0.94253	CCG		PASS	0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	90	6	90	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39818059	39818059	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:39818059G>T	ENST00000280083.3	+	23	2440	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R680I|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R1244I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R680I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R709I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R714I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R697I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R629I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R680I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R634I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R666I			O15320	CTGE5_HUMAN	CTAGE family, member 5	709	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.R709I(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTGGATGCAAGAGGCCCATTC	0.527																																						uc001wvg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2125-2127)AGA>ATA		CTAGE family, member 5 isoform 1							150.0	155.0	153.0					14																	39818059		2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39818059G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2126G>T	14.37:g.39818059G>T	ENSP00000280083:p.Arg709Ile					CTAGE5_uc001wuz.3_Missense_Mutation_p.R697I|CTAGE5_uc001wuy.3_Missense_Mutation_p.R629I|CTAGE5_uc001wvb.3_Missense_Mutation_p.R637I|CTAGE5_uc001wvc.3_Missense_Mutation_p.R611I|CTAGE5_uc001wva.3_Missense_Mutation_p.R680I|CTAGE5_uc001wvh.3_Missense_Mutation_p.R666I|CTAGE5_uc001wvf.3_Missense_Mutation_p.R634I|CTAGE5_uc001wvi.3_Missense_Mutation_p.R714I|CTAGE5_uc010amz.2_Missense_Mutation_p.R325I|CTAGE5_uc001wvj.3_Missense_Mutation_p.R680I	p.R709I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	23	2462	+	Hepatocellular(127;0.213)		709			Pro-rich.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2126G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737754	0.49045	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.15603	2.53;2.43;2.41;2.45;2.63;2.72;2.72;2.41;3.18;2.45	4.87	4.87	0.63330	.	0.000000	0.35677	N	0.003053	T	0.43055	0.1230	M	0.83852	2.665	0.47905	D	0.99954	D;D;D;D;D	0.65815	0.995;0.993;0.995;0.988;0.99	D;P;D;P;P	0.63381	0.914;0.885;0.914;0.839;0.879	T	0.44711	-0.9310	9	.	.	.	.	15.7717	0.78173	0.0:0.0:1.0:0.0	.	714;666;709;637;697	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	I	1244;697;629;680;709;714;709;634;666;680	ENSP00000452252:R1244I;ENSP00000343897:R697I;ENSP00000450869:R629I;ENSP00000379468:R680I;ENSP00000339286:R709I;ENSP00000379462:R714I;ENSP00000280083:R709I;ENSP00000452562:R634I;ENSP00000343912:R666I;ENSP00000450449:R680I	.	R	+	2	0	CTAGE5;RP11-407N17.3	38887810	1.000000	0.71417	0.085000	0.20634	0.006000	0.05464	5.434000	0.66526	2.246000	0.74042	0.655000	0.94253	AGA		PASS	0.527	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		10	186	10	186	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645264	45645264	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:45645264C>A	ENST00000267430.5	+	14	3392	c.3307C>A	c.(3307-3309)Cac>Aac	p.H1103N	FANCM_ENST00000542564.2_Missense_Mutation_p.H1077N	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1103					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.H1103N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGTTCAAATACACAGAAGCCC	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(3307-3309)CAC>AAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							57.0	57.0	57.0					14																	45645264		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645264C>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3307C>A	14.37:g.45645264C>A	ENSP00000267430:p.His1103Asn					FANCM_uc010anf.2_Missense_Mutation_p.H1077N|FANCM_uc001wwe.3_Missense_Mutation_p.H639N|FANCM_uc010ang.2_Missense_Mutation_p.H317N	p.H1103N	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	3406	+			1103					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3307C>A	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.078953|-3.078953	0.00035|0.00035	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.15718|.	3.0;2.99;2.4|.	5.41|5.41	0.934|0.934	0.19477|0.19477	.|.	1.419410|.	0.03638|.	N|.	0.238953|.	T|T	0.06280|0.06280	0.0162|0.0162	N|N	0.00246|0.00246	-1.78|-1.78	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.38351|0.38351	-0.9665|-0.9665	10|5	0.02654|.	T|.	1|.	.|.	5.1217|5.1217	0.14863|0.14863	0.278:0.4026:0.0:0.3194|0.278:0.4026:0.0:0.3194	.|.	1077;1103|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	N|K	1103;1077;619|35	ENSP00000267430:H1103N;ENSP00000442493:H1077N;ENSP00000452033:H619N|.	ENSP00000267430:H1103N|.	H|T	+|+	1|2	0|0	FANCM|FANCM	44715014|44715014	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.245000|0.245000	0.18142|0.18142	-0.005000|-0.005000	0.14395|0.14395	-0.218000|-0.218000	0.12543|0.12543	CAC|ACA		PASS	0.358	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		5	58	5	58	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47566206	47566206	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:47566206G>C	ENST00000399232.2	-	6	1203	c.839C>G	c.(838-840)tCc>tGc	p.S280C	MDGA2_ENST00000426342.1_Missense_Mutation_p.S51C|MDGA2_ENST00000439988.3_Missense_Mutation_p.S349C|MDGA2_ENST00000357362.3_Missense_Mutation_p.S51C	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	280	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S51C(2)|p.S349C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGTCCCAAAGGACCTGACCCA	0.468																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(838-840)TCC>TGC		MAM domain containing 1 isoform 1							128.0	124.0	125.0					14																	47566206		1916	4123	6039	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47566206G>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.839C>G	14.37:g.47566206G>C	ENSP00000382178:p.Ser280Cys					MDGA2_uc001wwi.3_Missense_Mutation_p.S51C|MDGA2_uc010ani.2_5'UTR	p.S280C	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			6	1035	-			280			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.839C>G		.	.	.	.	.	.	.	.	.	.	G	18.20	3.570419	0.65765	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123192	0.35436	U	0.003213	T	0.37732	0.1014	L	0.52905	1.665	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.01541	-1.1329	10	0.56958	D	0.05	.	18.6475	0.91416	0.0:0.0:1.0:0.0	.	280	Q7Z553	MDGA2_HUMAN	C	280;51;349;51	ENSP00000400011:S280C;ENSP00000405456:S51C;ENSP00000382178:S349C;ENSP00000349925:S51C	ENSP00000349925:S51C	S	-	2	0	MDGA2	46635956	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.459000	0.60102	2.821000	0.97095	0.650000	0.86243	TCC		PASS	0.468	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		23	89	23	89	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51224024	51224024	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:51224024G>T	ENST00000382041.3	-	18	3914	c.3724C>A	c.(3724-3726)Cct>Act	p.P1242T	NIN_ENST00000530997.2_Missense_Mutation_p.P1242T|NIN_ENST00000453196.1_Missense_Mutation_p.P1242T|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.P1242T|NIN_ENST00000324330.9_Missense_Mutation_p.P1242T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1242					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.P1242T(2)|p.P1248T(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GAAGCCTCAGGGATTCTCTCA	0.428			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(3724-3726)CCT>ACT		ninein isoform 5							126.0	130.0	129.0					14																	51224024		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224024G>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3724C>A	14.37:g.51224024G>T	ENSP00000371472:p.Pro1242Thr					NIN_uc001wyi.2_Missense_Mutation_p.P1242T|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.P1248T|NIN_uc001wyo.2_Missense_Mutation_p.P1242T	p.P1242T	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			18	3915	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1242			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3724C>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.304693|2.304693	0.40795|0.40795	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T	.|0.07688	.|3.44;3.17;3.17;3.17	6.06|6.06	3.22|3.22	0.36961|0.36961	.|.	0.212673|0.212673	0.40640|0.40640	N|N	0.001058|0.001058	T|T	0.11281|0.11281	0.0275|0.0275	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.49559	.|0.804;0.804;0.873;0.925	.|B;B;B;P	.|0.47075	.|0.225;0.225;0.23;0.536	T|T	0.12811|0.12811	-1.0533|-1.0533	6|10	.|0.15952	.|T	.|0.53	-2.4387|-2.4387	6.8357|6.8357	0.23935|0.23935	0.1488:0.2694:0.5818:0.0|0.1488:0.2694:0.5818:0.0	.|.	.|1248;1242;1242;1242	.|Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.|.;.;NIN_HUMAN;.	H|T	732|1242;1225;1248;1242;1242;1242	.|ENSP00000245441:P1242T;ENSP00000371472:P1242T;ENSP00000324210:P1242T;ENSP00000412391:P1242T	.|ENSP00000245441:P1242T	P|P	-|-	2|1	0|0	NIN|NIN	50293774|50293774	0.939000|0.939000	0.31865|0.31865	0.491000|0.491000	0.27477|0.27477	0.969000|0.969000	0.65631|0.65631	1.048000|1.048000	0.30379|0.30379	0.883000|0.883000	0.36040|0.36040	0.655000|0.655000	0.94253|0.94253	CCC|CCT		PASS	0.428	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		8	211	8	211	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52936765	52936765	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:52936765G>T	ENST00000281741.4	-	16	1979	c.1608C>A	c.(1606-1608)acC>acA	p.T536T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	536					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.T536T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTGTTTTCATGGTTGGACTAA	0.308																																						uc001wzs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1606-1608)ACC>ACA		thioredoxin domain containing 16 isoform 1							86.0	89.0	88.0					14																	52936765		2203	4298	6501	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52936765G>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1608C>A	14.37:g.52936765G>T						TXNDC16_uc010tqu.1_Silent_p.T531T|TXNDC16_uc010aoe.2_RNA	p.T536T	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			16	2057	-	Breast(41;0.0716)		536					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.1608C>A	CCDS32083.1																																																																																				PASS	0.308	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		8	172	8	172	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52981641	52981641	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:52981641G>T	ENST00000281741.4	-	8	933	c.562C>A	c.(562-564)Caa>Aaa	p.Q188K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	188					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.Q188K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAGACAAATTGGTATGTAGTC	0.358																																						uc001wzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)CAA>AAA		thioredoxin domain containing 16 isoform 1							148.0	154.0	152.0					14																	52981641		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52981641G>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.562C>A	14.37:g.52981641G>T	ENSP00000281741:p.Gln188Lys					TXNDC16_uc010tqu.1_Missense_Mutation_p.Q183K|TXNDC16_uc010aoe.2_RNA	p.Q188K	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			8	1011	-	Breast(41;0.0716)		188					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.562C>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972940	0.53614	.	.	ENSG00000087301	ENST00000281741	T	0.19669	2.13	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.56769	1.78	0.49389	D	0.999781	P;P	0.48503	0.911;0.533	B;B	0.39840	0.311;0.094	T	0.02736	-1.1117	10	0.23302	T	0.38	-33.1888	17.2216	0.86959	0.0:0.0:1.0:0.0	.	183;188	B7ZME4;Q9P2K2	.;TXD16_HUMAN	K	188	ENSP00000281741:Q188K	ENSP00000281741:Q188K	Q	-	1	0	TXNDC16	52051391	1.000000	0.71417	0.827000	0.32855	0.759000	0.43091	4.772000	0.62324	2.681000	0.91329	0.563000	0.77884	CAA		PASS	0.358	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		8	184	8	184	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52985907	52985907	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:52985907C>A	ENST00000281741.4	-	7	868	c.497G>T	c.(496-498)aGa>aTa	p.R166I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	166					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.R166I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TCCAATGGCTCTTACATATGA	0.308																																						uc001wzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)AGA>ATA		thioredoxin domain containing 16 isoform 1							84.0	89.0	87.0					14																	52985907		2203	4288	6491	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52985907C>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.497G>T	14.37:g.52985907C>A	ENSP00000281741:p.Arg166Ile					TXNDC16_uc010tqu.1_Missense_Mutation_p.R161I|TXNDC16_uc010aoe.2_RNA	p.R166I	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			7	946	-	Breast(41;0.0716)		166					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.497G>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876499	0.33162	.	.	ENSG00000087301	ENST00000281741	T	0.18016	2.24	5.38	2.53	0.30540	.	0.699979	0.15149	N	0.277811	T	0.14917	0.0360	L	0.44542	1.39	0.35010	D	0.756848	B;B	0.19200	0.026;0.034	B;B	0.22386	0.013;0.039	T	0.08973	-1.0696	10	0.59425	D	0.04	-16.5709	7.4428	0.27194	0.0:0.6409:0.0:0.3591	.	161;166	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	166	ENSP00000281741:R166I	ENSP00000281741:R166I	R	-	2	0	TXNDC16	52055657	0.850000	0.29656	0.979000	0.43373	0.837000	0.47467	-0.111000	0.10807	0.637000	0.30526	-0.137000	0.14449	AGA		PASS	0.308	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		8	160	8	160	---	---	---	---
FERMT2	10979	broad.mit.edu	37	14	53417131	53417131	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:53417131G>T	ENST00000395631.2	-	2	372	c.156C>A	c.(154-156)ctC>ctA	p.L52L	FERMT2_ENST00000341590.3_Splice_Site_p.L52L|FERMT2_ENST00000343279.4_Splice_Site_p.L52L|FERMT2_ENST00000553373.1_Splice_Site_p.L52L|FERMT2_ENST00000399304.3_Splice_Site_p.L52L			Q96AC1	FERM2_HUMAN	fermitin family member 2	52	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.L52L(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GCTACTCACCGAGTTTCTCCA	0.562																																						uc001xad.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)CTC>CTA		fermitin family homolog 2 isoform 1							164.0	148.0	153.0					14																	53417131		2203	4300	6503	SO:0001630	splice_region_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53417131G>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.157+1C>A	14.37:g.53417131G>T						FERMT2_uc001xac.2_Silent_p.L52L|FERMT2_uc001xae.2_Silent_p.L52L|FERMT2_uc001xaf.2_Silent_p.L52L	p.L52L	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			2	211	-	Breast(41;0.0342)		52					B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	c.156C>A	CCDS9713.1																																																																																				PASS	0.562	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	Silent	7	92	7	92	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55458024	55458024	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:55458024G>T	ENST00000360586.3	-	12	1313	c.1248C>A	c.(1246-1248)tcC>tcA	p.S416S	WDHD1_ENST00000421192.1_Silent_p.S293S|WDHD1_ENST00000359167.4_5'UTR|WDHD1_ENST00000420358.2_Silent_p.S293S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	416					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.S416S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGGCCTTTGGGATGTTACAA	0.438																																						uc001xbm.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1246-1248)TCC>TCA		WD repeat and HMG-box DNA binding protein 1							216.0	196.0	203.0					14																	55458024		2203	4300	6503	SO:0001819	synonymous_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55458024G>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1248C>A	14.37:g.55458024G>T						WDHD1_uc010aom.1_5'UTR|WDHD1_uc001xbn.1_Silent_p.S293S	p.S416S	NM_007086	NP_009017	O75717	WDHD1_HUMAN			12	1326	-			416					C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	c.1248C>A	CCDS9721.1																																																																																				PASS	0.438	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		6	84	6	84	---	---	---	---
TMEM260	54916	broad.mit.edu	37	14	57072380	57072380	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:57072380C>A	ENST00000261556.6	+	5	737	c.615C>A	c.(613-615)ctC>ctA	p.L205L	TMEM260_ENST00000538838.1_Silent_p.L205L|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	205						integral component of membrane (GO:0016021)		p.L205L(1)									CTTGGATTCTCTTTCAACTTT	0.289																																						uc001xcm.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(613-615)CTC>CTA		hypothetical protein LOC54916							113.0	123.0	119.0					14																	57072380		2202	4298	6500	SO:0001819	synonymous_variant	54916					integral to membrane		g.chr14:57072380C>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.615C>A	14.37:g.57072380C>A						C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Silent_p.L205L|C14orf101_uc010aot.1_Silent_p.L205L|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	p.L205L	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	5	737	+			205			Helical; (Potential).		A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	c.615C>A	CCDS9727.2																																																																																				PASS	0.289	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		9	223	9	223	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57686090	57686090	+	Silent	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:57686090A>T	ENST00000413566.2	-	14	1835	c.1476T>A	c.(1474-1476)atT>atA	p.I492I	EXOC5_ENST00000340918.7_Silent_p.I427I	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	492					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.I494I(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AAAGATGAAAAATAGTATTGG	0.313																																						uc001xct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1474-1476)ATT>ATA		SEC10 protein							50.0	45.0	46.0					14																	57686090		1829	4060	5889	SO:0001819	synonymous_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57686090A>T	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1476T>A	14.37:g.57686090A>T						EXOC5_uc001xcs.2_Silent_p.I171I|EXOC5_uc010trg.1_Silent_p.I437I|EXOC5_uc010trh.1_Silent_p.I427I	p.I492I	NM_006544	NP_006535	O00471	EXOC5_HUMAN			14	1727	-			492					B2R6C5	Silent	SNP	ENST00000413566.2	37	c.1476T>A	CCDS45111.1																																																																																				PASS	0.313	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		11	18	11	18	---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57698409	57698409	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:57698409C>A	ENST00000413566.2	-	11	1322	c.963G>T	c.(961-963)ctG>ctT	p.L321L	EXOC5_ENST00000340918.7_Silent_p.L256L	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	321					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L323L(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TAAACTCCATCAGCTTGCTGG	0.313																																						uc001xct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(961-963)CTG>CTT		SEC10 protein							64.0	62.0	62.0					14																	57698409		1816	4074	5890	SO:0001819	synonymous_variant	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57698409C>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.963G>T	14.37:g.57698409C>A						EXOC5_uc001xcs.2_5'UTR|EXOC5_uc010trg.1_Silent_p.L266L|EXOC5_uc010trh.1_Silent_p.L256L	p.L321L	NM_006544	NP_006535	O00471	EXOC5_HUMAN			11	1214	-			321					B2R6C5	Silent	SNP	ENST00000413566.2	37	c.963G>T	CCDS45111.1																																																																																				PASS	0.313	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		7	133	7	133	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63175127	63175127	+	Missense_Mutation	SNP	C	C	A	rs533454331		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:63175127C>A	ENST00000322893.7	-	11	2334	c.2066G>T	c.(2065-2067)cGc>cTc	p.R689L	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	689					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R689L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGCCGGAGGCGCTCCTCCTC	0.498																																						uc001xfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2065-2067)CGC>CTC		potassium voltage-gated channel, subfamily H,							86.0	91.0	89.0					14																	63175127		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175127C>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2066G>T	14.37:g.63175127C>A	ENSP00000321427:p.Arg689Leu					KCNH5_uc001xfy.2_3'UTR	p.R689L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2117	-			689			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2066G>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597295	0.46318	.	.	ENSG00000140015	ENST00000322893	T	0.16597	2.33	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	L	0.58101	1.795	0.80722	D	1	B	0.27910	0.193	B	0.26614	0.071	T	0.02574	-1.1139	10	0.25106	T	0.35	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	689	Q8NCM2	KCNH5_HUMAN	L	689	ENSP00000321427:R689L	ENSP00000321427:R689L	R	-	2	0	KCNH5	62244880	0.998000	0.40836	0.771000	0.31576	0.981000	0.71138	3.823000	0.55715	2.717000	0.92951	0.655000	0.94253	CGC		PASS	0.498	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		5	122	5	122	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63483580	63483580	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:63483580C>A	ENST00000322893.7	-	2	434	c.166G>T	c.(166-168)Gct>Tct	p.A56S	KCNH5_ENST00000394968.1_5'UTR|KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000420622.2_Missense_Mutation_p.A56S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	56	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A56S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATGACGTCAGCTCGATGATAT	0.363																																						uc001xfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(166-168)GCT>TCT		potassium voltage-gated channel, subfamily H,							98.0	90.0	93.0					14																	63483580		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63483580C>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.166G>T	14.37:g.63483580C>A	ENSP00000321427:p.Ala56Ser					KCNH5_uc001xfy.2_Missense_Mutation_p.A56S|KCNH5_uc001xfz.1_5'UTR|KCNH5_uc001xga.2_5'UTR	p.A56S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	2	217	-			56			Cytoplasmic (Potential).|PAS.		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.166G>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167074	0.94768	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	T;T	0.76578	-1.03;-1.03	5.43	5.43	0.79202	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.62209	1.925	0.80722	D	1	P;D	0.89917	0.851;1.0	P;D	0.83275	0.55;0.996	D	0.87273	0.2287	10	0.56958	D	0.05	.	19.2407	0.93881	0.0:1.0:0.0:0.0	.	56;56	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	S	56	ENSP00000321427:A56S;ENSP00000395439:A56S	ENSP00000321427:A56S	A	-	1	0	KCNH5	62553333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.569000	0.86673	0.591000	0.81541	GCT		PASS	0.363	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		9	97	9	97	---	---	---	---
SGPP1	81537	broad.mit.edu	37	14	64165361	64165361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:64165361C>A	ENST00000247225.6	-	2	794	c.700G>T	c.(700-702)Gga>Tga	p.G234*		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	234					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.G234*(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGAATCAGTCCATATATAAGA	0.299																																						uc001xgj.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(700-702)GGA>TGA		sphingosine-1-phosphate phosphatase 1							61.0	61.0	61.0					14																	64165361		2203	4294	6497	SO:0001587	stop_gained	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64165361C>A	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.700G>T	14.37:g.64165361C>A	ENSP00000247225:p.Gly234*						p.G234*	NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	2	794	-			234			Helical; (Potential).		B2RAH0|Q9H189	Nonsense_Mutation	SNP	ENST00000247225.6	37	c.700G>T	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	37	6.358001	0.97502	.	.	ENSG00000126821	ENST00000247225	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.1847	19.5805	0.95465	0.0:1.0:0.0:0.0	.	.	.	.	X	234	.	ENSP00000247225:G234X	G	-	1	0	SGPP1	63235114	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.071000	0.71229	2.806000	0.96561	0.655000	0.94253	GGA		PASS	0.299	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		7	107	7	107	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64688335	64688335	+	Silent	SNP	G	G	T	rs75079588	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:64688335G>T	ENST00000344113.4	+	111	20246	c.20034G>T	c.(20032-20034)gcG>gcT	p.A6678A	SYNE2_ENST00000458046.2_Silent_p.A349A|SYNE2_ENST00000555022.1_Silent_p.A556A|SYNE2_ENST00000554805.1_Silent_p.A461A|SYNE2_ENST00000441438.2_Silent_p.A223A|SYNE2_ENST00000394768.2_Silent_p.A3063A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Silent_p.A3063A|SYNE2_ENST00000358025.3_Silent_p.A6701A|SYNE2_ENST00000554584.1_Silent_p.A6594A|SYNE2_ENST00000555002.1_Silent_p.A3335A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6678					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.A6701A(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGGTTAGCGAGTGCCAAGA	0.547																																						uc001xgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20032-20034)GCG>GCT		spectrin repeat containing, nuclear envelope 2							179.0	174.0	175.0					14																	64688335		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64688335G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20034G>T	14.37:g.64688335G>T						SYNE2_uc001xgl.2_Silent_p.A6701A|SYNE2_uc010apy.2_Silent_p.A3063A|SYNE2_uc001xgn.2_Silent_p.A1640A|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Silent_p.A648A|SYNE2_uc001xgq.2_Silent_p.A1057A|SYNE2_uc001xgr.2_Silent_p.A461A|SYNE2_uc010tsi.1_Silent_p.A335A|SYNE2_uc001xgs.2_Silent_p.A349A|SYNE2_uc001xgt.2_Silent_p.A223A	p.A6678A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	111	20264	+			6678			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.20034G>T	CCDS41963.1																																																																																				PASS	0.547	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	121	7	121	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65246547	65246547	+	Nonsense_Mutation	SNP	C	C	A	rs371440362		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:65246547C>A	ENST00000389721.5	-	20	4401	c.4369G>T	c.(4369-4371)Gag>Tag	p.E1457*	SPTB_ENST00000389722.3_Nonsense_Mutation_p.E1457*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.E1457*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.E1457*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.E1457*	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1457					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E1457*(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AACCGCTTCTCGATGCTCAAG	0.562																																						uc001xht.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4369-4371)GAG>TAG		spectrin beta isoform b							158.0	146.0	150.0					14																	65246547		2203	4300	6503	SO:0001587	stop_gained	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246547C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4369G>T	14.37:g.65246547C>A	ENSP00000374371:p.Glu1457*					SPTB_uc001xhr.2_Nonsense_Mutation_p.E1457*|SPTB_uc001xhs.2_Nonsense_Mutation_p.E1457*|SPTB_uc001xhu.2_Nonsense_Mutation_p.E1457*|SPTB_uc010aqi.2_Nonsense_Mutation_p.E118*	p.E1457*	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4423	-		all_lung(585;4.15e-09)	1457			Spectrin 12.		Q15510|Q15519	Nonsense_Mutation	SNP	ENST00000389721.5	37	c.4369G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	44	10.892336	0.99484	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	5.42	5.42	0.78866	.	0.055759	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.9797	0.89137	0.0:1.0:0.0:0.0	.	.	.	.	X	1461;1457;241;122;1457;1457;1457;1457	.	ENSP00000334218:E241X	E	-	1	0	SPTB	64316300	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	4.635000	0.61332	2.543000	0.85770	0.561000	0.74099	GAG		PASS	0.562	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	110	5	110	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67787968	67787968	+	Missense_Mutation	SNP	C	C	A	rs201876355		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:67787968C>A	ENST00000261681.4	+	13	2393	c.1732C>A	c.(1732-1734)Cgt>Agt	p.R578S	MPP5_ENST00000555925.1_Missense_Mutation_p.R544S|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	578	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.R578S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTTAAGTCTTCGTACACAGGT	0.368																																						uc001xjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1732-1734)CGT>AGT		membrane protein, palmitoylated 5							135.0	134.0	135.0					14																	67787968		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67787968C>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1732C>A	14.37:g.67787968C>A	ENSP00000261681:p.Arg578Ser					MPP5_uc001xjd.2_Missense_Mutation_p.R544S|ATP6V1D_uc001xje.2_Intron	p.R578S	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	13	2198	+			578			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.1732C>A	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348992	0.61183	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.38722	1.12;1.12	5.14	4.22	0.49857	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.052254	0.85682	D	0.000000	T	0.17365	0.0417	N	0.00788	-1.185	0.80722	D	1	B	0.06786	0.001	B	0.17433	0.018	T	0.09335	-1.0679	10	0.40728	T	0.16	.	15.0292	0.71694	0.1426:0.8574:0.0:0.0	.	578	Q8N3R9	MPP5_HUMAN	S	578;544	ENSP00000261681:R578S;ENSP00000451488:R544S	ENSP00000261681:R578S	R	+	1	0	MPP5	66857721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.688000	0.84153	2.364000	0.80123	0.563000	0.77884	CGT		PASS	0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		8	148	8	148	---	---	---	---
ATP6V1D	51382	broad.mit.edu	37	14	67805349	67805349	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:67805349G>T	ENST00000216442.7	-	9	1283	c.733C>A	c.(733-735)Cta>Ata	p.L245I	ATP6V1D_ENST00000553974.1_5'Flank|ATP6V1D_ENST00000554236.1_3'UTR|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.L146I|Y_RNA_ENST00000362885.1_RNA|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.L190I	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	245					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L245I(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TATTCAAATAGAAGATCCTCG	0.408																																						uc001xjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(733-735)CTA>ATA		H(+)-transporting two-sector ATPase							159.0	167.0	164.0					14																	67805349		2203	4300	6503	SO:0001583	missense	51382				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr14:67805349G>T	AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"""ATPases / V-type"""	13527	protein-coding gene	gene with protein product		609398	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"""	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.733C>A	14.37:g.67805349G>T	ENSP00000216442:p.Leu245Ile					ATP6V1D_uc001xje.2_RNA	p.L245I	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN		all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)	9	909	-			245					B2RE33|Q9Y688	Missense_Mutation	SNP	ENST00000216442.7	37	c.733C>A	CCDS9780.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101726	0.20632	.	.	ENSG00000100554	ENST00000555474;ENST00000216442;ENST00000555431	.	.	.	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.24115	0.695	0.80722	D	1	B	0.31859	0.343	B	0.32022	0.139	T	0.29701	-1.0003	9	0.05833	T	0.94	-29.086	14.9015	0.70684	0.0685:0.0:0.9315:0.0	.	245	Q9Y5K8	VATD_HUMAN	I	146;245;190	.	ENSP00000216442:L245I	L	-	1	2	ATP6V1D	66875102	1.000000	0.71417	0.998000	0.56505	0.560000	0.35617	5.884000	0.69729	1.473000	0.48159	0.655000	0.94253	CTA		PASS	0.408	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412511.1	NM_015994		9	205	9	205	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69585939	69585939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:69585939C>A	ENST00000341516.5	-	3	514	c.367G>T	c.(367-369)Gag>Tag	p.E123*	DCAF5_ENST00000557386.1_Nonsense_Mutation_p.E123*|DCAF5_ENST00000556847.1_Nonsense_Mutation_p.E41*|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000554215.1_Nonsense_Mutation_p.E41*|DCAF5_ENST00000389997.6_Nonsense_Mutation_p.E123*	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	123					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.E123*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATAACTTGCTCATCATTGCCT	0.358																																						uc001xkp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(367-369)GAG>TAG		WD repeat domain 22							164.0	138.0	147.0					14																	69585939		2203	4300	6503	SO:0001587	stop_gained	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69585939C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.367G>T	14.37:g.69585939C>A	ENSP00000341351:p.Glu123*					DCAF5_uc001xkq.2_Nonsense_Mutation_p.E123*|DCAF5_uc001xkr.3_Nonsense_Mutation_p.E123*|DCAF5_uc001xks.2_Nonsense_Mutation_p.E123*	p.E123*	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			3	586	-			123			WD 2.		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Nonsense_Mutation	SNP	ENST00000341516.5	37	c.367G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547300	0.96488	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.9951	18.8045	0.92030	0.0:1.0:0.0:0.0	.	.	.	.	X	123;41;41;123;123;41	.	ENSP00000341351:E123X	E	-	1	0	DCAF5	68655692	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.397000	0.73239	2.762000	0.94881	0.591000	0.81541	GAG		PASS	0.358	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		7	88	7	88	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71063403	71063403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:71063403C>A	ENST00000256379.5	-	3	228	c.199G>T	c.(199-201)Gag>Tag	p.E67*	MED6_ENST00000440435.2_Nonsense_Mutation_p.E67*|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000430055.2_Nonsense_Mutation_p.E67*|MED6_ENST00000554963.1_Nonsense_Mutation_p.E67*|MED6_ENST00000556044.1_5'UTR	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	67					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E67*(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGGATGTACTCGATTCCAACC	0.373																																						uc001xmf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(199-201)GAG>TAG		mediator of RNA polymerase II transcription,							69.0	70.0	70.0					14																	71063403		2203	4300	6503	SO:0001587	stop_gained	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71063403C>A	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.199G>T	14.37:g.71063403C>A	ENSP00000256379:p.Glu67*					MED6_uc010tth.1_Nonsense_Mutation_p.E67*|MED6_uc010tti.1_Nonsense_Mutation_p.E67*|MED6_uc001xmg.1_Nonsense_Mutation_p.E67*|MED6_uc010ttj.1_Nonsense_Mutation_p.E67*	p.E67*	NM_005466	NP_005457	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	3	229	-			67					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Nonsense_Mutation	SNP	ENST00000256379.5	37	c.199G>T	CCDS9805.1	.	.	.	.	.	.	.	.	.	.	C	36	5.751802	0.96890	.	.	ENSG00000133997	ENST00000554963;ENST00000256379;ENST00000430055;ENST00000440435	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.7537	19.4714	0.94965	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	ENSP00000256379:E67X	E	-	1	0	MED6	70133156	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.277000	0.78572	2.837000	0.97791	0.591000	0.81541	GAG		PASS	0.373	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		5	103	5	103	---	---	---	---
DCAF4	26094	broad.mit.edu	37	14	73412709	73412709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:73412709G>T	ENST00000358377.2	+	7	872	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	DCAF4_ENST00000553457.1_Nonsense_Mutation_p.E118*|DCAF4_ENST00000509153.1_Nonsense_Mutation_p.E157*|DCAF4_ENST00000394234.2_Nonsense_Mutation_p.E118*|DCAF4_ENST00000555042.1_Nonsense_Mutation_p.E218*|DCAF4_ENST00000353777.3_Nonsense_Mutation_p.E157*	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	218					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.E218*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GTTCATGCACGAAAACCTCTA	0.517																																						uc001xng.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(652-654)GAA>TAA		DDB1 and CUL4 associated factor 4 isoform 1							175.0	158.0	164.0					14																	73412709		2203	4300	6503	SO:0001587	stop_gained	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73412709G>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.652G>T	14.37:g.73412709G>T	ENSP00000351147:p.Glu218*					DCAF4_uc001xnj.2_Nonsense_Mutation_p.E218*|DCAF4_uc010ttr.1_Nonsense_Mutation_p.E196*|DCAF4_uc001xnh.2_Nonsense_Mutation_p.E118*|DCAF4_uc010tts.1_Nonsense_Mutation_p.E157*|DCAF4_uc010ttt.1_Nonsense_Mutation_p.E3*|DCAF4_uc001xni.2_Nonsense_Mutation_p.E157*|DCAF4_uc001xnk.2_Nonsense_Mutation_p.E218*	p.E218*	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			7	872	+			218					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Nonsense_Mutation	SNP	ENST00000358377.2	37	c.652G>T	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	G	36	5.808237	0.96967	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	.	.	.	6.04	4.23	0.50019	.	0.082928	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.5209	0.56058	0.1331:0.0:0.8669:0.0	.	.	.	.	X	218;157;118;157;218;118	.	ENSP00000345176:E157X	E	+	1	0	DCAF4	72482462	1.000000	0.71417	0.691000	0.30163	0.812000	0.45895	7.535000	0.82014	0.903000	0.36546	0.561000	0.74099	GAA		PASS	0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		5	91	5	91	---	---	---	---
ZNF410	57862	broad.mit.edu	37	14	74364926	74364926	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:74364926C>A	ENST00000555044.1	+	5	735	c.541C>A	c.(541-543)Cgt>Agt	p.R181S	ZNF410_ENST00000556797.1_Missense_Mutation_p.R128S|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.R128S|ZNF410_ENST00000442160.3_Missense_Mutation_p.R198S|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.R181S|ZNF410_ENST00000540593.1_Missense_Mutation_p.R108S	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R181S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGCTGCTACTCGTGCACAACT	0.488																																						uc001xoz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(541-543)CGT>AGT		zinc finger protein 410							113.0	95.0	101.0					14																	74364926		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74364926C>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.541C>A	14.37:g.74364926C>A	ENSP00000451763:p.Arg181Ser					ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.R108S|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.R198S|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Missense_Mutation_p.R181S|ZNF410_uc001xpc.1_Missense_Mutation_p.R128S|ZNF410_uc010tuj.1_5'UTR	p.R181S	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	5	723	+			181					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.541C>A	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418806	0.83559	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557363;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T;T	0.09630	3.05;3.05;3.02;3.04;2.96	5.05	2.14	0.27477	.	0.000000	0.39834	N	0.001250	T	0.17577	0.0422	L	0.32530	0.975	0.58432	D	0.999999	D;D;B;B	0.71674	0.998;0.996;0.159;0.099	D;D;B;B	0.78314	0.991;0.979;0.067;0.03	T	0.01909	-1.1249	10	0.33141	T	0.24	.	8.715	0.34405	0.0:0.7379:0.124:0.1381	.	108;198;181;181	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	S	108;181;128;170;198;181;128;128	ENSP00000442228:R108S;ENSP00000323293:R181S;ENSP00000407130:R198S;ENSP00000451763:R181S;ENSP00000334170:R128S	ENSP00000323293:R181S	R	+	1	0	ZNF410	73434679	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.479000	0.53165	0.707000	0.31934	0.655000	0.94253	CGT		PASS	0.488	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		5	41	5	41	---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75614415	75614415	+	Silent	SNP	G	G	T	rs199528319		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:75614415G>T	ENST00000303575.4	-	3	414	c.363C>A	c.(361-363)ctC>ctA	p.L121L	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	121	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)	p.L121L(1)		endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTAGGATCACGAGTTGGTCAG	0.493																																						uc001xrm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)CTC>CTA		transmembrane emp24 domain-containing protein 10							235.0	212.0	220.0					14																	75614415		2203	4300	6503	SO:0001819	synonymous_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75614415G>T	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.363C>A	14.37:g.75614415G>T						TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR	p.L121L	NM_006827	NP_006818	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	3	430	-			121			Lumenal (Potential).|GOLD.		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Silent	SNP	ENST00000303575.4	37	c.363C>A	CCDS9840.1																																																																																				PASS	0.493	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		9	202	9	202	---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76219245	76219245	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:76219245C>A	ENST00000298832.9	+	18	1702	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000556893.1_Silent_p.L37L|TTLL5_ENST00000557636.1_Silent_p.L513L|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	499					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.L499L(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTCCTACCTCGAGCATAAGA	0.368																																						uc001xrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1495-1497)CTC>CTA		tubulin tyrosine ligase-like family, member 5							114.0	106.0	109.0					14																	76219245		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76219245C>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1497C>A	14.37:g.76219245C>A						TTLL5_uc010ask.1_Silent_p.L513L|TTLL5_uc001xrz.2_Silent_p.L61L|TTLL5_uc001xry.1_RNA	p.L499L	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	18	1702	+			499					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.1497C>A	CCDS32124.1																																																																																				PASS	0.368	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		10	203	10	203	---	---	---	---
CIPC	85457	broad.mit.edu	37	14	77572095	77572095	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:77572095C>A	ENST00000361786.2	+	2	361	c.44C>A	c.(43-45)tCt>tAt	p.S15Y	KIAA1737_ENST00000555611.1_Missense_Mutation_p.S15Y|KIAA1737_ENST00000555437.1_Missense_Mutation_p.S15Y|RP11-463C8.4_ENST00000557752.1_Missense_Mutation_p.S15Y	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		15					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S15Y(1)		endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGAAGACTCTCTGCCAAAGTA	0.488																																						uc001xtd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)TCT>TAT		KIAA1737 protein							128.0	127.0	127.0					14																	77572095		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77572095C>A																												ENST00000361786.2:c.44C>A	14.37:g.77572095C>A	ENSP00000355319:p.Ser15Tyr					KIAA1737_uc001xtc.1_Translation_Start_Site	p.S15Y	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	2	223	+			15					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.44C>A	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968451	0.53614	.	.	ENSG00000198894	ENST00000361786;ENST00000555437;ENST00000555611;ENST00000554658;ENST00000557115;ENST00000554447;ENST00000555200	T;T;T;T;T;T;T	0.54866	1.42;0.55;0.82;0.83;0.83;0.82;0.82	5.63	3.51	0.40186	.	0.793366	0.11978	N	0.511090	T	0.43456	0.1248	N	0.24115	0.695	0.22639	N	0.9989	P	0.36249	0.545	P	0.45138	0.471	T	0.37150	-0.9718	10	0.56958	D	0.05	-12.6493	4.5376	0.12042	0.0:0.6292:0.2323:0.1385	.	15	Q9C0C6	K1737_HUMAN	Y	15	ENSP00000355319:S15Y;ENSP00000451997:S15Y;ENSP00000450972:S15Y;ENSP00000451522:S15Y;ENSP00000452589:S15Y;ENSP00000452380:S15Y;ENSP00000451493:S15Y	ENSP00000355319:S15Y	S	+	2	0	KIAA1737	76641848	0.522000	0.26266	0.830000	0.32933	0.689000	0.40095	1.122000	0.31295	1.339000	0.45563	0.637000	0.83480	TCT		PASS	0.488	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			8	116	8	116	---	---	---	---
VIPAS39	63894	broad.mit.edu	37	14	77909006	77909006	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:77909006C>A	ENST00000553888.1	-	10	1142		c.e10-1		VIPAS39_ENST00000557658.1_Splice_Site|VIPAS39_ENST00000448935.2_Splice_Site|VIPAS39_ENST00000556412.1_Splice_Site|VIPAS39_ENST00000327028.4_Splice_Site|VIPAS39_ENST00000343765.2_Splice_Site	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog						cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.?(1)									AAGAGGATCTCTGTCAGACAG	0.413																																						uc001xtt.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e11-1		hypothetical protein LOC63894							96.0	99.0	98.0					14																	77909006		2203	4300	6503	SO:0001630	splice_region_variant	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77909006C>A	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.632-1G>T	14.37:g.77909006C>A						VIPAR_uc001xtu.1_Splice_Site_p.E211_splice|VIPAR_uc010tvj.1_Splice_Site_p.E162_splice|VIPAR_uc001xtv.1_Splice_Site_p.E211_splice	p.E211_splice	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			11	970	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Splice_Site	SNP	ENST00000553888.1	37	c.632_splice	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619740	0.66787	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2495	0.87038	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VIPAR	76978759	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	6.963000	0.76055	2.146000	0.66826	0.655000	0.94253	.		PASS	0.413	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067	Intron	7	100	7	100	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81528491	81528491	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:81528491G>T	ENST00000541158.2	+	3	492		c.e3-1		TSHR_ENST00000298171.2_Splice_Site|TSHR_ENST00000554435.1_Splice_Site|TSHR_ENST00000554263.1_Splice_Site|TSHR_ENST00000342443.6_Splice_Site			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.?(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TATTTTCACAGGAAGCTTATT	0.274			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		2	Unknown(2)		lung(2)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.e2-1		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						62.0	66.0	65.0					14																	81528491		2203	4287	6490	SO:0001630	splice_region_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81528491G>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.171-1G>T	14.37:g.81528491G>T						TSHR_uc001xvb.1_Splice_Site_p.L57_splice|TSHR_uc001xvc.2_Splice_Site_p.L57_splice|TSHR_uc010tvs.1_Splice_Site_p.L57_splice	p.L57_splice	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	327	+								A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Splice_Site	SNP	ENST00000541158.2	37	c.171_splice	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132236	0.37630	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.609	0.84838	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSHR	80598244	1.000000	0.71417	0.996000	0.52242	0.296000	0.27459	5.943000	0.70211	2.723000	0.93209	0.655000	0.94253	.		PASS	0.274	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	Intron	8	177	8	177	---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88897553	88897553	+	Missense_Mutation	SNP	C	C	A	rs369170423		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:88897553C>A	ENST00000393545.4	+	9	1355	c.1066C>A	c.(1066-1068)Cgt>Agt	p.R356S	SPATA7_ENST00000356583.5_Missense_Mutation_p.R324S|SPATA7_ENST00000045347.7_Missense_Mutation_p.R356S|SPATA7_ENST00000556553.1_Missense_Mutation_p.R324S	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	356					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.R356S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCCTTCAACTCGTAAAATCTA	0.358																																						uc001xwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1066-1068)CGT>AGT		spermatogenesis-associated protein 7 isoform a							206.0	196.0	199.0					14																	88897553		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88897553C>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1066C>A	14.37:g.88897553C>A	ENSP00000377176:p.Arg356Ser					SPATA7_uc001xwr.2_Missense_Mutation_p.R324S|SPATA7_uc001xws.2_Missense_Mutation_p.R292S|SPATA7_uc001xwt.2_Missense_Mutation_p.R250S|SPATA7_uc001xwu.2_Missense_Mutation_p.R12S	p.R356S	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			9	1217	+			356					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.1066C>A	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	0.096	-1.159156	0.01686	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.95	3.8	0.43715	.	0.552004	0.18961	N	0.126405	T	0.11067	0.0270	L	0.28192	0.835	0.23168	N	0.998187	B;B;B;B	0.12630	0.006;0.001;0.0;0.001	B;B;B;B	0.12837	0.004;0.008;0.006;0.008	T	0.32375	-0.9909	10	0.18276	T	0.48	-3.1141	9.1785	0.37127	0.8158:0.1842:0.0:0.0	.	356;324;324;356	Q9P0W8-3;A8K3L6;Q9P0W8-2;Q9P0W8	.;.;.;SPAT7_HUMAN	S	324;356;324;356	ENSP00000451128:R324S;ENSP00000377176:R356S;ENSP00000348991:R324S;ENSP00000045347:R356S	ENSP00000045347:R356S	R	+	1	0	SPATA7	87967306	0.806000	0.28996	0.542000	0.28115	0.008000	0.06430	1.807000	0.38902	0.835000	0.34877	-0.560000	0.04181	CGT		PASS	0.358	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			8	226	8	226	---	---	---	---
ZC3H14	79882	broad.mit.edu	37	14	89037427	89037427	+	Splice_Site	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:89037427G>C	ENST00000251038.5	+	4	419		c.e4-1		ZC3H14_ENST00000393514.5_Splice_Site|ZC3H14_ENST00000555755.1_Splice_Site|ZC3H14_ENST00000359301.3_Splice_Site|ZC3H14_ENST00000556945.1_Splice_Site|ZC3H14_ENST00000557607.1_Splice_Site|ZC3H14_ENST00000302216.8_Splice_Site|ZC3H14_ENST00000336693.4_Splice_Site	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTTTTCCTCAGGCTTCATGGT	0.274																																						uc001xww.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e4-1		zinc finger CCCH-type containing 14 isoform 1							80.0	82.0	82.0					14																	89037427		2202	4293	6495	SO:0001630	splice_region_variant	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89037427G>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.195-1G>C	14.37:g.89037427G>C						ZC3H14_uc010twd.1_Splice_Site_p.W65_splice|ZC3H14_uc010twe.1_Splice_Site_p.W65_splice|ZC3H14_uc001xwx.2_Splice_Site_p.W65_splice|ZC3H14_uc010twf.1_Splice_Site|ZC3H14_uc001xwy.2_Splice_Site_p.W31_splice|ZC3H14_uc010twg.1_5'Flank	p.W65_splice	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			4	420	+								A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Splice_Site	SNP	ENST00000251038.5	37	c.195_splice	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858904	0.71834	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.479	0.90804	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H14	88107180	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.921000	0.87530	2.793000	0.96121	0.655000	0.94253	.		PASS	0.274	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	Intron	15	139	15	139	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92530748	92530748	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:92530748C>A	ENST00000393287.5	-	11	1059	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	ATXN3_ENST00000340660.6_Missense_Mutation_p.M279I|ATXN3_ENST00000502250.1_Missense_Mutation_p.M155I|ATXN3_ENST00000545170.1_Missense_Mutation_p.M343I|ATXN3_ENST00000429774.2_Missense_Mutation_p.M327I|ATXN3_ENST00000503767.1_Missense_Mutation_p.M319I			P54252	ATX3_HUMAN	ataxin 3	334					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.M334I(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CTTCTTCACTCATAGCATCAC	0.318																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)ATG>ATT		ataxin 3 reference isoform							79.0	84.0	82.0					14																	92530748		2203	4300	6503	SO:0001583	missense	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92530748C>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000393287.5:c.1002G>T	14.37:g.92530748C>A	ENSP00000376965:p.Met334Ile					ATXN3_uc010aug.2_Missense_Mutation_p.M319I|ATXN3_uc001yad.3_Missense_Mutation_p.M279I|ATXN3_uc010auh.2_Missense_Mutation_p.M268I|ATXN3_uc001yae.3_Missense_Mutation_p.M236I	p.M334I	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	11	1071	-		all_cancers(154;0.0768)	334			UIM 3.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000393287.5	37	c.1002G>T	CCDS9900.1	.	.	.	.	.	.	.	.	.	.	C	8.815	0.936285	0.18206	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660	T;T;T;T;T;T	0.24151	2.31;2.27;2.24;1.92;2.26;1.87	5.67	5.67	0.87782	.	0.242021	0.43110	D	0.000606	T	0.15565	0.0375	N	0.08118	0	0.27993	N	0.935595	B;B;B;B	0.28055	0.097;0.019;0.199;0.009	B;B;B;B	0.30029	0.11;0.067;0.045;0.006	T	0.13282	-1.0515	10	0.20519	T	0.43	.	16.7548	0.85496	0.0:1.0:0.0:0.0	.	319;345;279;334	E9PB63;F5H096;P54252-3;P54252-2	.;.;.;.	I	350;347;345;343;343;342;339;327;348;334;155;319;279	ENSP00000445618:M343I;ENSP00000389376:M327I;ENSP00000376965:M334I;ENSP00000425322:M155I;ENSP00000426697:M319I;ENSP00000339110:M279I	ENSP00000339110:M279I	M	-	3	0	ATXN3	91600501	1.000000	0.71417	0.967000	0.41034	0.041000	0.13682	2.841000	0.48223	2.695000	0.91970	0.460000	0.39030	ATG		PASS	0.318	ATXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367922.3	NM_004993		10	253	10	253	---	---	---	---
ITPK1	3705	broad.mit.edu	37	14	93412760	93412760	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:93412760G>T	ENST00000267615.6	-	10	990	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	ITPK1_ENST00000556603.2_Missense_Mutation_p.L273M|ITPK1_ENST00000555495.1_Missense_Mutation_p.L154M|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.L273M			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	273	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.L273M(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GACACGCCCAGTGCCTGCCGC	0.617																																						uc001ybg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(817-819)CTG>ATG		inositol 1,3,4-triphosphate 5/6 kinase isoform							99.0	89.0	92.0					14																	93412760		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412760G>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.817C>A	14.37:g.93412760G>T	ENSP00000267615:p.Leu273Met					ITPK1_uc001ybe.2_Missense_Mutation_p.L273M|ITPK1_uc001ybf.2_Missense_Mutation_p.L154M|ITPK1_uc001ybh.2_Missense_Mutation_p.L273M	p.L273M	NM_014216	NP_055031	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	1106	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	273			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.817C>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671928	0.88348	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	T	0.12672	2.66	5.25	4.36	0.52297	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.071794	0.56097	D	0.000023	T	0.36138	0.0956	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08411	-1.0723	10	0.56958	D	0.05	-20.4105	13.2485	0.60036	0.0765:0.0:0.9235:0.0	.	273;273	Q13572;Q13572-2	ITPK1_HUMAN;.	M	273;303;273;154;273;273	ENSP00000346272:L273M	ENSP00000267615:L273M	L	-	1	2	ITPK1	92482513	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.627000	0.67784	2.456000	0.83038	0.561000	0.74099	CTG		PASS	0.617	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		5	54	5	54	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95029960	95029960	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:95029960C>A	ENST00000557004.1	+	2	562	c.141C>A	c.(139-141)ccC>ccA	p.P47P	SERPINA4_ENST00000555095.1_Silent_p.P47P|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.P47P			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	47					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P47P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AGGGCTCCCCCAGCCTCAAGA	0.562																																						uc001ydk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(139-141)CCC>CCA		serine (or cysteine) proteinase inhibitor, clade							77.0	71.0	73.0					14																	95029960		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95029960C>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.141C>A	14.37:g.95029960C>A						SERPINA4_uc010avd.2_Silent_p.P84P|SERPINA4_uc001ydl.2_Silent_p.P47P	p.P47P	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	207	+			47					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.141C>A	CCDS9927.1																																																																																				PASS	0.562	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		30	42	30	42	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95570029	95570029	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:95570029C>A	ENST00000526495.1	-	23	3995	c.3704G>T	c.(3703-3705)tGt>tTt	p.C1235F	DICER1_ENST00000541352.1_Missense_Mutation_p.C1235F|DICER1_ENST00000527414.1_Missense_Mutation_p.C1235F|DICER1_ENST00000393063.1_Missense_Mutation_p.C1235F|DICER1_ENST00000343455.3_Missense_Mutation_p.C1235F|DICER1_ENST00000556045.1_Missense_Mutation_p.C133F			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1235					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.C1235F(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGAGAGTACATTCATCGCT	0.428			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3703-3705)TGT>TTT		dicer1							136.0	131.0	133.0					14																	95570029		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95570029C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3704G>T	14.37:g.95570029C>A	ENSP00000437256:p.Cys1235Phe					DICER1_uc010avh.1_Missense_Mutation_p.C133F|DICER1_uc001ydv.2_Missense_Mutation_p.C1225F|DICER1_uc001ydx.2_Missense_Mutation_p.C1235F|DICER1_uc001ydy.1_Missense_Mutation_p.C87F	p.C1235F	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3886	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1235					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3704G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950019	0.53186	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.89270	0.3;0.3;0.3;0.3;-2.49;0.6	5.42	5.42	0.78866	.	0.250321	0.47852	D	0.000214	D	0.90328	0.6974	L	0.29908	0.895	0.58432	D	0.999996	D;P;P	0.71674	0.998;0.557;0.497	D;B;B	0.78314	0.991;0.163;0.092	D	0.86011	0.1501	10	0.10111	T	0.7	-14.6596	19.2116	0.93757	0.0:1.0:0.0:0.0	.	133;1235;1235	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	F	1235;1235;1235;1235;133;1235	ENSP00000343745:C1235F;ENSP00000437256:C1235F;ENSP00000376783:C1235F;ENSP00000435681:C1235F;ENSP00000451041:C133F;ENSP00000444719:C1235F	ENSP00000343745:C1235F	C	-	2	0	DICER1	94639782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.542000	0.85734	0.561000	0.74099	TGT		PASS	0.428	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	99	6	99	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95582907	95582907	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:95582907G>T	ENST00000526495.1	-	12	1926	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	DICER1_ENST00000541352.1_Silent_p.S545S|DICER1_ENST00000527414.1_Silent_p.S545S|DICER1_ENST00000393063.1_Silent_p.S545S|DICER1_ENST00000343455.3_Silent_p.S545S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	545	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.S545S(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTGAACATAGGATCGATATT	0.368			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1633-1635)TCC>TCA		dicer1							147.0	155.0	152.0					14																	95582907		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95582907G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1635C>A	14.37:g.95582907G>T						DICER1_uc001ydv.2_Silent_p.S535S|DICER1_uc001ydx.2_Silent_p.S545S	p.S545S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	11	1817	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	545			Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.1635C>A	CCDS9931.1																																																																																				PASS	0.368	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			8	160	8	160	---	---	---	---
BDKRB1	623	broad.mit.edu	37	14	96730991	96730991	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:96730991G>T	ENST00000216629.6	+	3	1578	c.972G>T	c.(970-972)tgG>tgT	p.W324C	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	324					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.W324C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCAAGGTCTGGGAACTTTATA	0.443																																						uc001yfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(970-972)TGG>TGT		bradykinin receptor B1							139.0	151.0	147.0					14																	96730991		2203	4300	6503	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730991G>T	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.972G>T	14.37:g.96730991G>T	ENSP00000216629:p.Trp324Cys					BDKRB1_uc010avn.2_Intron	p.W324C	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1180	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	324			Cytoplasmic (Potential).		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.972G>T	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781381	0.16120	.	.	ENSG00000100739	ENST00000216629	T	0.37058	1.22	4.45	3.52	0.40303	.	0.710683	0.13576	U	0.377715	T	0.17450	0.0419	N	0.08118	0	0.80722	D	1	B	0.22080	0.064	B	0.22601	0.04	T	0.10730	-1.0617	10	0.35671	T	0.21	-2.5088	5.2471	0.15502	0.1129:0.0:0.6836:0.2035	.	324	P46663	BKRB1_HUMAN	C	324	ENSP00000216629:W324C	ENSP00000216629:W324C	W	+	3	0	BDKRB1	95800744	0.995000	0.38212	0.997000	0.53966	0.979000	0.70002	1.049000	0.30392	2.013000	0.59113	0.561000	0.74099	TGG		PASS	0.443	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			8	254	8	254	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102442115	102442115	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:102442115A>C	ENST00000360184.4	+	2	487	c.323A>C	c.(322-324)cAt>cCt	p.H108P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	108	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.H108P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAGACATTCATTATGGGGTT	0.279																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(322-324)CAT>CCT		cytoplasmic dynein 1 heavy chain 1							68.0	74.0	72.0					14																	102442115		2203	4299	6502	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102442115A>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.323A>C	14.37:g.102442115A>C	ENSP00000348965:p.His108Pro						p.H108P	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			2	487	+			108			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.323A>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944428	0.53079	.	.	ENSG00000197102	ENST00000360184	T	0.28069	1.63	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.72894	2.215	0.80722	D	1	P	0.44006	0.824	B	0.36719	0.231	T	0.18398	-1.0338	10	0.32370	T	0.25	.	15.5105	0.75776	1.0:0.0:0.0:0.0	.	108	Q14204	DYHC1_HUMAN	P	108	ENSP00000348965:H108P	ENSP00000348965:H108P	H	+	2	0	DYNC1H1	101511868	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.716000	0.74702	2.054000	0.61138	0.383000	0.25322	CAT		PASS	0.279	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		22	135	22	135	---	---	---	---
RCOR1	23186	broad.mit.edu	37	14	103177273	103177273	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:103177273G>T	ENST00000570597.1	+	7	772	c.772G>T	c.(772-774)Gag>Tag	p.E258*	RCOR1_ENST00000262241.6_Splice_Site_p.E261*			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	258					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.E258*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GTCTTCCAGCGAGGATGAACT	0.333																																						uc001ymb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(772-774)GAG>TAG		REST corepressor 1							95.0	97.0	97.0					14																	103177273		2203	4300	6503	SO:0001630	splice_region_variant	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103177273G>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.771-1G>T	14.37:g.103177273G>T							p.E258*	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			7	772	+			258			Potential.		Q15044|Q6P2I9|Q86VG5	Nonsense_Mutation	SNP	ENST00000570597.1	37	c.772G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.062383	0.98036	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.58	4.69	0.59074	.	0.105665	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-27.5603	14.6354	0.68686	0.0703:0.0:0.9297:0.0	.	.	.	.	X	258	.	ENSP00000262241:E258X	E	+	1	0	RCOR1	102247026	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	8.921000	0.92784	1.359000	0.45940	0.491000	0.48974	GAG		PASS	0.333	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	Nonsense_Mutation	6	146	6	146	---	---	---	---
RCOR1	23186	broad.mit.edu	37	14	103188542	103188542	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:103188542G>T	ENST00000570597.1	+	11	1199	c.1199G>T	c.(1198-1200)cGa>cTa	p.R400L	RCOR1_ENST00000262241.6_Missense_Mutation_p.R403L			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	400	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.R400L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAATATGGCCGAGATTTTCAG	0.348																																						uc001ymb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1198-1200)CGA>CTA		REST corepressor 1							55.0	56.0	56.0					14																	103188542		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103188542G>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1199G>T	14.37:g.103188542G>T	ENSP00000459789:p.Arg400Leu						p.R400L	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			11	1199	+			400			SANT 2.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.1199G>T		.	.	.	.	.	.	.	.	.	.	G	23.6	4.432911	0.83776	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.74	4.85	0.62838	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.66939	2.045	0.80722	D	1	D	0.60160	0.987	P	0.49853	0.624	T	0.70648	-0.4814	9	0.87932	D	0	-10.93	14.9567	0.71120	0.0686:0.0:0.9314:0.0	.	400	Q9UKL0	RCOR1_HUMAN	L	400	.	ENSP00000262241:R400L	R	+	2	0	RCOR1	102258295	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.804000	0.62554	1.433000	0.47394	0.655000	0.94253	CGA		PASS	0.348	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		7	116	7	116	---	---	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103574790	103574790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:103574790G>T	ENST00000380069.3	+	10	1988	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	638					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.E638*(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GATCCTGGGCGAGACCTACAA	0.607																																						uc001ymk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1912-1914)GAG>TAG		hypothetical protein LOC91828							197.0	172.0	181.0					14																	103574790		2203	4300	6503	SO:0001587	stop_gained	91828							g.chr14:103574790G>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1912G>T	14.37:g.103574790G>T	ENSP00000369409:p.Glu638*						p.E638*	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		10	1988	+		Melanoma(154;0.155)	638					Q14CR2	Nonsense_Mutation	SNP	ENST00000380069.3	37	c.1912G>T	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	G	38	6.736873	0.97801	.	.	ENSG00000205436	ENST00000380069	.	.	.	4.14	4.14	0.48551	.	0.322809	0.28119	N	0.016538	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-30.4169	11.8054	0.52152	0.0:0.0:1.0:0.0	.	.	.	.	X	638	.	ENSP00000369409:E638X	E	+	1	0	EXOC3L4	102644543	0.994000	0.37717	0.948000	0.38648	0.588000	0.36517	2.802000	0.47916	2.133000	0.65898	0.462000	0.41574	GAG		PASS	0.607	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		5	95	5	95	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105418747	105418747	+	Missense_Mutation	SNP	C	C	A	rs75352715	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:105418747C>A	ENST00000333244.5	-	7	3160	c.3041G>T	c.(3040-3042)gGg>gTg	p.G1014V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1014						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.G1014V(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)			GATGGACTTCCCTGGGGCCGA	0.602																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3040-3042)GGG>GTG		AHNAK nucleoprotein 2							209.0	225.0	220.0					14																	105418747		1971	4175	6146	SO:0001583	missense	113146					nucleus		g.chr14:105418747C>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.3041G>T	14.37:g.105418747C>A	ENSP00000353114:p.Gly1014Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.G914V	p.G1014V	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	3161	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1014					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3041G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.16	1.855970	0.32791	.	.	ENSG00000185567	ENST00000333244	T	0.02579	4.24	3.68	2.78	0.32641	.	.	.	.	.	T	0.06188	0.0160	M	0.86343	2.81	0.09310	N	1	P	0.41450	0.75	B	0.40009	0.316	T	0.24764	-1.0151	9	0.33940	T	0.23	.	5.6883	0.17815	0.0:0.6528:0.0:0.3472	.	1014	Q8IVF2	AHNK2_HUMAN	V	1014	ENSP00000353114:G1014V	ENSP00000353114:G1014V	G	-	2	0	AHNAK2	104489792	0.048000	0.20356	0.024000	0.17045	0.025000	0.11179	0.000000	0.12993	0.518000	0.28383	0.491000	0.48974	GGG		PASS	0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	178	11	178	---	---	---	---
IGHV5-51	28388	broad.mit.edu	37	14	107034915	107034915	+	RNA	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr14:107034915C>A	ENST00000390626.2	-	0	223									immunoglobulin heavy variable 5-51																		TCTGGCGCACCCAGCCGATCC	0.567																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							25.0	31.0	29.0					14																	107034915		1960	4158	6118			8755							g.chr14:107034915C>A	M99686		14q32.33	2012-02-08			ENSG00000211966	ENSG00000211966		"""Immunoglobulins / IGH locus"""	5659	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151960		14.37:g.107034915C>A						uc001ysz.2_Missense_Mutation_p.W55C								154		-									RNA	SNP	ENST00000390626.2	37	c.7318G>T																																																																																					PASS	0.567	IGHV5-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324606.1	NG_001019		5	9	5	9	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25599709	25599709	+	Missense_Mutation	SNP	G	G	T	rs587781218		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:25599709G>T	ENST00000397954.2	-	8	2254	c.2255C>A	c.(2254-2256)cCa>cAa	p.P752Q	UBE3A_ENST00000232165.3_Missense_Mutation_p.P749Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.P729Q|UBE3A_ENST00000438097.1_Missense_Mutation_p.P729Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.P729Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	752					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.P752Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AATTTCTTCTGGTCTGAATAA	0.353																																						uc001zaq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2254-2256)CCA>CAA		ubiquitin protein ligase E3A isoform 2							127.0	133.0	131.0					15																	25599709		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25599709G>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2255C>A	15.37:g.25599709G>T	ENSP00000381045:p.Pro752Gln					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P729Q|UBE3A_uc001zas.2_Missense_Mutation_p.P749Q|UBE3A_uc001zat.2_Missense_Mutation_p.P729Q	p.P752Q	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	8	2255	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	752					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2255C>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890333	0.91889	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.65	5.65	0.86999	HECT (4);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93396	0.6756	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	749;752	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	749;749;752;729;729	ENSP00000232165:P749Q;ENSP00000381045:P752Q;ENSP00000411258:P729Q;ENSP00000401265:P729Q	ENSP00000232165:P749Q	P	-	2	0	UBE3A	23150802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CCA		PASS	0.353	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		8	142	8	142	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25925402	25925402	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:25925402C>A	ENST00000356865.6	-	20	3843	c.3732G>T	c.(3730-3732)gtG>gtT	p.V1244V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1244					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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.V1244V(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAATCAAAGCCACGGTGAAAA	0.468																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3730-3732)GTG>GTT		ATPase, class V, type 10A							141.0	126.0	131.0					15																	25925402		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925402C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3732G>T	15.37:g.25925402C>A							p.V1244V	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	3838	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1244			Helical; (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3732G>T	CCDS32178.1																																																																																				PASS	0.468	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		8	49	8	49	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27572070	27572070	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:27572070C>A	ENST00000333743.6	+	4	639	c.385C>A	c.(385-387)Cca>Aca	p.P129T	GABRG3_ENST00000555083.1_Missense_Mutation_p.P129T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	129					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P129T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATCTGGATCCCAGACACCAT	0.463																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)CCA>ACA		gamma-aminobutyric acid (GABA) A receptor, gamma							122.0	122.0	122.0					15																	27572070		1989	4199	6188	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572070C>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.385C>A	15.37:g.27572070C>A	ENSP00000331912:p.Pro129Thr					GABRG3_uc001zbf.2_Missense_Mutation_p.P129T	p.P129T	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	551	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	129			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.385C>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200822	0.79015	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	D;D;D	0.98550	-4.99;-4.99;-4.99	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98472	1.0601	10	0.87932	D	0	.	19.016	0.92894	0.0:1.0:0.0:0.0	.	129;129	Q99928;G3V594	GBRG3_HUMAN;.	T	129;129;71	ENSP00000331912:P129T;ENSP00000452244:P129T;ENSP00000451862:P71T	ENSP00000331912:P129T	P	+	1	0	GABRG3	25154816	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	7.558000	0.82253	2.718000	0.92993	0.650000	0.86243	CCA		PASS	0.463	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			7	85	7	85	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28386674	28386674	+	Silent	SNP	G	G	C	rs191221988		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:28386674G>C	ENST00000261609.7	-	78	12027	c.11919C>G	c.(11917-11919)gtC>gtG	p.V3973V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V3973V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGGAACTTTGACTTTTGCGC	0.542																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(11917-11919)GTC>GTG		hect domain and RLD 2							94.0	91.0	92.0					15																	28386674		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386674G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11919C>G	15.37:g.28386674G>C							p.V3973V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	12025	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3973			RCC1 13.			Silent	SNP	ENST00000261609.7	37	c.11919C>G	CCDS10021.1																																																																																				PASS	0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	58	5	58	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31354782	31354782	+	Splice_Site	SNP	G	G	T	rs202130526		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:31354782G>T	ENST00000256552.6	-	9	1236	c.1089C>A	c.(1087-1089)ctC>ctA	p.L363L	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Splice_Site_p.L341L|TRPM1_ENST00000542188.1_Splice_Site_p.L380L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.L341L(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)		AGACACTTACGAGTTCTTTCT	0.348																																						uc001zfm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1021-1023)CTC>CTA		transient receptor potential cation channel,							135.0	123.0	127.0					15																	31354782		1845	4096	5941	SO:0001630	splice_region_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31354782G>T	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.1089+1C>A	15.37:g.31354782G>T						TRPM1_uc010azy.2_Silent_p.L248L|TRPM1_uc001zfl.2_RNA	p.L341L	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)	8	1151	-		all_lung(180;1.92e-11)	341			Extracellular (Potential).			Silent	SNP	ENST00000256552.6	37	c.1023C>A	CCDS58346.1																																																																																				PASS	0.348	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Silent	5	89	5	89	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34147053	34147053	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:34147053C>T	ENST00000389232.4	+	98	14017	c.13947C>T	c.(13945-13947)atC>atT	p.I4649I	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Silent_p.I4644I|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4649					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.I4648I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATTGGACATCGCAATGGGCT	0.453																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13945-13947)ATC>ATT		ryanodine receptor 3							199.0	185.0	189.0					15																	34147053		1992	4196	6188	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34147053C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13947C>T	15.37:g.34147053C>T						RYR3_uc010bar.2_Silent_p.I4644I	p.I4649I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	98	14017	+		all_lung(180;7.18e-09)	4649					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.13947C>T	CCDS45210.1																																																																																				PASS	0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	88	19	88	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40246108	40246108	+	Missense_Mutation	SNP	C	C	A	rs181799121		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:40246108C>A	ENST00000263791.5	+	5	560	c.517C>A	c.(517-519)Cgt>Agt	p.R173S	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R173S|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R173S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	173					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.R173S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATTTCAGCAACGTGAAATCCT	0.328																																						uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(517-519)CGT>AGT		eukaryotic translation initiation factor 2 alpha							95.0	85.0	88.0					15																	40246108		1817	4079	5896	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40246108C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.517C>A	15.37:g.40246108C>A	ENSP00000263791:p.Arg173Ser					EIF2AK4_uc001zkl.2_Missense_Mutation_p.R173S|EIF2AK4_uc010bbj.1_5'Flank	p.R173S	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	5	567	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	173					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.517C>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528276	0.64860	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.16743	2.32;2.32	5.76	5.76	0.90799	.	0.062103	0.64402	D	0.000004	T	0.22936	0.0554	M	0.72894	2.215	0.48288	D	0.999627	B;B	0.33448	0.129;0.412	B;B	0.31946	0.06;0.138	T	0.02301	-1.1180	10	0.23302	T	0.38	-13.4675	17.8096	0.88611	0.0:1.0:0.0:0.0	.	173;173	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	S	173	ENSP00000263791:R173S;ENSP00000372174:R173S	ENSP00000263791:R173S	R	+	1	0	EIF2AK4	38033400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.389000	0.52516	2.742000	0.94016	0.558000	0.71614	CGT		PASS	0.328	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			6	101	6	101	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40247944	40247944	+	Silent	SNP	C	C	A	rs370491259		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:40247944C>A	ENST00000263791.5	+	6	761	c.718C>A	c.(718-720)Cgg>Agg	p.R240R	EIF2AK4_ENST00000559624.1_Silent_p.R240R|EIF2AK4_ENST00000382727.2_Silent_p.R240R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	240					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.R240R(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGGTAAACATCGGGCAAACTC	0.453																																						uc001zkm.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(718-720)CGG>AGG		eukaryotic translation initiation factor 2 alpha							103.0	98.0	100.0					15																	40247944		1871	4102	5973	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40247944C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.718C>A	15.37:g.40247944C>A						EIF2AK4_uc001zkl.2_Silent_p.R240R|EIF2AK4_uc010bbj.1_5'UTR	p.R240R	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	6	768	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	240					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.718C>A	CCDS42016.1																																																																																				PASS	0.453	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			5	92	5	92	---	---	---	---
NUSAP1	51203	broad.mit.edu	37	15	41668024	41668024	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:41668024A>C	ENST00000559596.1	+	9	1208	c.1121A>C	c.(1120-1122)aAa>aCa	p.K374T	NUSAP1_ENST00000450318.1_Intron|NUSAP1_ENST00000560177.1_Missense_Mutation_p.K373T|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.K372T|NUSAP1_ENST00000260359.6_Missense_Mutation_p.K359T|NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000414849.2_Missense_Mutation_p.K373T			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	374	Interaction with microtubules. {ECO:0000250}.				establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K374T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GAACCACACAAAGGTATGTGG	0.443																																						uc001zns.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)AAA>ACA		nucleolar and spindle associated protein 1							96.0	90.0	92.0					15																	41668024		2171	4286	6457	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41668024A>C	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.1121A>C	15.37:g.41668024A>C	ENSP00000453403:p.Lys374Thr					NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Missense_Mutation_p.K373T|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Missense_Mutation_p.K359T|NUSAP1_uc001znv.3_Missense_Mutation_p.K372T|NUSAP1_uc001znu.3_Missense_Mutation_p.K373T|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Missense_Mutation_p.K178T	p.K374T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	9	1351	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	374			Interaction with microtubules (By similarity).		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.1121A>C	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.335491	0.60853	.	.	ENSG00000137804	ENST00000260359;ENST00000414849	T	0.46063	0.88	5.03	5.03	0.67393	.	0.259510	0.45126	D	0.000390	T	0.45856	0.1363	L	0.56396	1.775	0.80722	D	1	B;B;B;B;D	0.56746	0.383;0.112;0.383;0.383;0.977	B;B;B;B;P	0.47075	0.151;0.079;0.151;0.151;0.536	T	0.51498	-0.8698	10	0.87932	D	0	.	12.5281	0.56098	1.0:0.0:0.0:0.0	.	372;373;374;374;373	Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;NUSAP_HUMAN;.	T	374;373	ENSP00000400746:K373T	ENSP00000260359:K374T	K	+	2	0	NUSAP1	39455316	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	0.892000	0.28322	2.246000	0.74042	0.443000	0.29094	AAA		PASS	0.443	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		8	47	8	47	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41819710	41819710	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:41819710C>T	ENST00000304330.4	-	12	1638	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E508K|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	508						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E508K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCATTCTTCATCCTCGTCC	0.547																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1522-1524)GAA>AAA		RNA polymerase II associated protein 1							87.0	84.0	85.0					15																	41819710		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819710C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1522G>A	15.37:g.41819710C>T	ENSP00000306123:p.Glu508Lys						p.E508K	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	12	1646	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	508					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1522G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729942	0.69074	.	.	ENSG00000103932	ENST00000304330	T	0.13657	2.57	5.19	4.26	0.50523	.	0.335033	0.31949	N	0.006807	T	0.21145	0.0509	M	0.65498	2.005	0.47547	D	0.99945	P	0.37015	0.578	B	0.40199	0.322	T	0.03354	-1.1045	10	0.54805	T	0.06	-1.9593	15.5561	0.76196	0.0:0.861:0.139:0.0	.	508	Q9BWH6	RPAP1_HUMAN	K	508	ENSP00000306123:E508K	ENSP00000306123:E508K	E	-	1	0	RPAP1	39607002	0.190000	0.23276	0.997000	0.53966	0.792000	0.44763	1.315000	0.33608	1.482000	0.48325	0.655000	0.94253	GAA		PASS	0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		12	37	12	37	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42003149	42003149	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:42003149C>A	ENST00000570161.1	+	7	2686	c.2686C>A	c.(2686-2688)Cga>Aga	p.R896R	MGA_ENST00000566586.1_Silent_p.R896R|MGA_ENST00000389936.4_Silent_p.R896R|MGA_ENST00000219905.7_Silent_p.R896R|MGA_ENST00000545763.1_Silent_p.R896R			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R896R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTGTCTCTCGAAAGGCAAA	0.388																																						uc001zog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2686-2688)CGA>AGA		MAX-interacting protein isoform 2							140.0	137.0	138.0					15																	42003149		1844	4086	5930	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003149C>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2686C>A	15.37:g.42003149C>A						MGA_uc010ucy.1_Silent_p.R896R|MGA_uc010ucz.1_Silent_p.R896R	p.R896R	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2777	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	896					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.2686C>A	CCDS55959.1																																																																																				PASS	0.388	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		7	183	7	183	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42302381	42302381	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:42302381C>A	ENST00000413860.2	-	1	64	c.65G>T	c.(64-66)aGc>aTc	p.S22I	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	32					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.S22I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CTCCGGTACGCTGGGAGCCTG	0.592																																						uc001zow.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)AGC>ATC		phospholipase A2, group 4E							76.0	85.0	82.0					15																	42302381		1877	4098	5975	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42302381C>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.65G>T	15.37:g.42302381C>A	ENSP00000413897:p.Ser22Ile						p.S22I	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	1	65	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	Error:Variant_position_missing_in_Q3MJ16_after_alignment					Q6ZSC0	Missense_Mutation	SNP	ENST00000413860.2	37	c.65G>T		.	.	.	.	.	.	.	.	.	.	C	10.09	1.255211	0.22965	.	.	ENSG00000188089	ENST00000413860	T	0.01560	4.77	3.51	-5.41	0.02648	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44772	-0.9306	8	0.42905	T	0.14	.	5.6982	0.17867	0.0976:0.1344:0.5742:0.1938	.	22	C9JK77	.	I	22	ENSP00000413897:S22I	ENSP00000413897:S22I	S	-	2	0	PLA2G4E	40089673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.442000	0.02407	-1.255000	0.02481	-0.258000	0.10820	AGC		PASS	0.592	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding		NM_198442		5	28	5	28	---	---	---	---
TMEM62	80021	broad.mit.edu	37	15	43441294	43441294	+	Missense_Mutation	SNP	C	C	A	rs372947734		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:43441294C>A	ENST00000260403.2	+	7	1090	c.811C>A	c.(811-813)Cgt>Agt	p.R271S		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	271						integral component of membrane (GO:0016021)		p.R271S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTGCACACTCGTCACTTCCA	0.408																																						uc001zqr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(811-813)CGT>AGT		transmembrane protein 62							138.0	131.0	133.0					15																	43441294		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43441294C>A	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.811C>A	15.37:g.43441294C>A	ENSP00000260403:p.Arg271Ser					TMEM62_uc010bda.2_Missense_Mutation_p.R141S	p.R271S	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	7	1090	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	271					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.811C>A	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525907	0.96431	.	.	ENSG00000137842	ENST00000260403	T	0.40476	1.03	5.09	5.09	0.68999	.	0.126923	0.64402	D	0.000019	T	0.53578	0.1805	L	0.50333	1.59	0.58432	D	0.999999	D	0.59357	0.985	P	0.57244	0.816	T	0.41610	-0.9499	10	0.21540	T	0.41	-8.1695	18.8435	0.92194	0.0:1.0:0.0:0.0	.	271	Q0P6H9	TMM62_HUMAN	S	271	ENSP00000260403:R271S	ENSP00000260403:R271S	R	+	1	0	TMEM62	41228586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.535000	0.67173	2.524000	0.85096	0.563000	0.77884	CGT		PASS	0.408	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		5	99	5	99	---	---	---	---
CCNDBP1	23582	broad.mit.edu	37	15	43483668	43483668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:43483668G>T	ENST00000300213.4	+	8	897	c.655G>T	c.(655-657)Gag>Tag	p.E219*	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Nonsense_Mutation_p.E58*	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	219	Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E219*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CCACAATCATGAGGATGATGT	0.468																																						uc001zqv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(655-657)GAG>TAG		cyclin D-type binding-protein 1 isoform 1							106.0	95.0	99.0					15																	43483668		2203	4299	6502	SO:0001587	stop_gained	23582				cell cycle	cytoplasm|nucleus	protein binding	g.chr15:43483668G>T	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.655G>T	15.37:g.43483668G>T	ENSP00000300213:p.Glu219*					CCNDBP1_uc001zqu.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010bdc.2_Nonsense_Mutation_p.E219*|CCNDBP1_uc010bdb.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010udl.1_Nonsense_Mutation_p.E58*|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010bdd.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc001zqy.2_Nonsense_Mutation_p.E91*	p.E219*	NM_012142	NP_036274	O95273	CCDB1_HUMAN		GBM - Glioblastoma multiforme(94;8.42e-07)	8	886	+		all_cancers(109;3.31e-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;0.215)	219			Interaction with TCF3.		A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Nonsense_Mutation	SNP	ENST00000300213.4	37	c.655G>T	CCDS10092.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052437	0.93793	.	.	ENSG00000166946	ENST00000300213;ENST00000356633;ENST00000444658	.	.	.	5.12	5.12	0.69794	.	0.751861	0.10945	N	0.616828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-8.8739	16.1007	0.81169	0.0:0.0:1.0:0.0	.	.	.	.	X	219;58;91	.	ENSP00000300213:E219X	E	+	1	0	CCNDBP1	41270960	1.000000	0.71417	0.113000	0.21522	0.539000	0.34962	6.336000	0.72954	2.656000	0.90262	0.650000	0.86243	GAG		PASS	0.468	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		7	90	7	90	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43712600	43712600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:43712600G>T	ENST00000263801.3	-	21	4821	c.4569C>A	c.(4567-4569)taC>taA	p.Y1523*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Y1528*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Y1528*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Y1478*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1523	Interaction with dimethylated histone H4.|Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.Y1523*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CATCACATTCGTACCCATCAT	0.478								Other conserved DNA damage response genes																														uc001zrs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(4567-4569)TAC>TAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							268.0	253.0	258.0					15																	43712600		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43712600G>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4569C>A	15.37:g.43712600G>T	ENSP00000263801:p.Tyr1523*					TP53BP1_uc010udp.1_Nonsense_Mutation_p.Y1523*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Y1528*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Y1528*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Y1528*	p.Y1523*	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	21	4717	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1523	Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.|Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'.		Interaction with dimethylated histone H4.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.4569C>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	44	11.044384	0.99507	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.56	-0.796	0.10912	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-8.1588	11.5853	0.50914	0.5718:0.0:0.4282:0.0	.	.	.	.	X	1523;1528;1478;1528	.	ENSP00000263801:Y1523X	Y	-	3	2	TP53BP1	41499892	0.765000	0.28485	0.989000	0.46669	0.996000	0.88848	-0.087000	0.11215	-0.324000	0.08589	0.591000	0.81541	TAC		PASS	0.478	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			8	202	8	202	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44951474	44951474	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:44951474A>G	ENST00000261866.7	-	3	486	c.470T>C	c.(469-471)cTg>cCg	p.L157P	SPG11_ENST00000559193.1_Missense_Mutation_p.L157P|SPG11_ENST00000535302.2_Missense_Mutation_p.L157P|SPG11_ENST00000427534.2_Missense_Mutation_p.L157P|SPG11_ENST00000558319.1_Missense_Mutation_p.L157P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	157					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.L157P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGAAATGACAGGATTCTCAA	0.308																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(469-471)CTG>CCG		spatacsin isoform 1							82.0	81.0	81.0					15																	44951474		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44951474A>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.470T>C	15.37:g.44951474A>G	ENSP00000261866:p.Leu157Pro					SPG11_uc010ueh.1_Missense_Mutation_p.L157P|SPG11_uc010uei.1_Missense_Mutation_p.L157P|SPG11_uc001zua.1_Missense_Mutation_p.L157P	p.L157P	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	3	501	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	157			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.470T>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027789	0.75390	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;D;D	0.88046	-2.33;-2.08;-2.07	5.99	5.99	0.97316	.	0.093945	0.44483	D	0.000445	D	0.92509	0.7621	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.91635	0.906;0.983;0.971;0.999	D	0.93134	0.6535	10	0.87932	D	0	.	14.7717	0.69684	1.0:0.0:0.0:0.0	.	157;157;157;157	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	P	157	ENSP00000261866:L157P;ENSP00000445278:L157P;ENSP00000396110:L157P	ENSP00000261866:L157P	L	-	2	0	SPG11	42738766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.626000	0.67777	2.304000	0.77564	0.529000	0.55759	CTG		PASS	0.308	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	59	6	59	---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45556214	45556214	+	Missense_Mutation	SNP	C	C	A	rs562313082		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:45556214C>A	ENST00000347644.3	+	6	647	c.582C>A	c.(580-582)caC>caA	p.H194Q	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	194					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.H194Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CCAAACACCACAGCGCAGTGA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20234	0.0		0.0	False		,,,				2504	0.001				NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(580-582)CAC>CAA		solute carrier family 28 (sodium-coupled							148.0	123.0	131.0					15																	45556214		2198	4298	6496	SO:0001583	missense	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45556214C>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.582C>A	15.37:g.45556214C>A	ENSP00000315006:p.His194Gln						p.H194Q	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	6	647	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	194					A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	c.582C>A	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931831	0.52866	.	.	ENSG00000137860	ENST00000347644	T	0.13307	2.6	5.77	2.46	0.29980	Na dependent nucleoside transporter (1);	0.143803	0.64402	D	0.000007	T	0.32526	0.0832	M	0.85099	2.735	0.21579	N	0.999636	D	0.59357	0.985	P	0.61477	0.889	T	0.13124	-1.0521	10	0.25751	T	0.34	-11.8435	10.2768	0.43515	0.0:0.7436:0.0:0.2564	.	194	O43868	S28A2_HUMAN	Q	194	ENSP00000315006:H194Q	ENSP00000315006:H194Q	H	+	3	2	SLC28A2	43343506	0.002000	0.14202	0.993000	0.49108	0.871000	0.50021	-0.052000	0.11865	0.801000	0.34066	0.563000	0.77884	CAC		PASS	0.483	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		6	95	6	95	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50769081	50769081	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:50769081G>T	ENST00000396444.3	+	9	1223	c.885G>T	c.(883-885)ttG>ttT	p.L295F	USP8_ENST00000425032.3_Missense_Mutation_p.L218F|USP8_ENST00000307179.4_Missense_Mutation_p.L295F|USP8_ENST00000433963.1_Missense_Mutation_p.L295F	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	295	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.L295F(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGAGCCTTTGGTTTTAGAGG	0.413																																						uc001zym.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(883-885)TTG>TTT		ubiquitin specific peptidase 8							114.0	106.0	109.0					15																	50769081		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769081G>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.885G>T	15.37:g.50769081G>T	ENSP00000379721:p.Leu295Phe					USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.L295F|USP8_uc001zyn.3_Missense_Mutation_p.L295F|USP8_uc010ufh.1_Missense_Mutation_p.L218F|USP8_uc010bev.1_Intron	p.L295F	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	10	1385	+			295			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.885G>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228477	0.58777	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.95	1.48	0.22813	Rhodanese-like (5);	0.000000	0.64402	D	0.000001	T	0.44829	0.1312	M	0.75447	2.3	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.29243	-1.0018	10	0.40728	T	0.16	-7.3178	8.8414	0.35144	0.4349:0.0:0.5651:0.0	.	218;295	B4DKA8;P40818	.;UBP8_HUMAN	F	295;295;295;218	ENSP00000379721:L295F;ENSP00000405537:L295F;ENSP00000302239:L295F;ENSP00000412682:L218F	ENSP00000302239:L295F	L	+	3	2	USP8	48556373	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.361000	0.20267	0.594000	0.29761	0.460000	0.39030	TTG		PASS	0.413	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		7	89	7	89	---	---	---	---
CYP19A1	1588	broad.mit.edu	37	15	51535107	51535107	+	Start_Codon_SNP	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:51535107C>A	ENST00000396402.1	-	2	156	c.3G>T	c.(1-3)atG>atT	p.M1I	CYP19A1_ENST00000559878.1_Start_Codon_SNP_p.M1I|CYP19A1_ENST00000396404.4_Start_Codon_SNP_p.M1I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000405913.3_Start_Codon_SNP_p.M1I|CYP19A1_ENST00000557858.1_Start_Codon_SNP_p.M1I|MIR4713_ENST00000582691.1_RNA|CYP19A1_ENST00000260433.2_Start_Codon_SNP_p.M1I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	1					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.M1I(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TTTCCAAAACCATCTTGTGTT	0.473																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1-3)ATG>ATT		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						220.0	196.0	204.0					15																	51535107		2196	4293	6489	SO:0001582	initiator_codon_variant	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51535107C>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.3G>T	15.37:g.51535107C>A	ENSP00000379683:p.Met1Ile					CYP19A1_uc001zza.3_Missense_Mutation_p.M1I|CYP19A1_uc001zzb.2_Missense_Mutation_p.M1I|CYP19A1_uc001zzd.2_Missense_Mutation_p.M1I|CYP19A1_uc010bey.1_Missense_Mutation_p.M1I|CYP19A1_uc001zze.1_RNA	p.M1I	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	3	254	-			1					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.3G>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019989	0.54576	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.78003	-0.45;-0.45;-0.45;1.95;-0.59;-0.56;-1.14	5.01	5.01	0.66863	.	0.303247	0.37530	N	0.002042	D	0.87853	0.6282	.	.	.	0.41626	D	0.988998	D;P	0.56287	0.975;0.518	D;B	0.66196	0.942;0.104	D	0.88748	0.3248	9	0.56958	D	0.05	-29.5604	18.5115	0.90918	0.0:1.0:0.0:0.0	.	1;1	Q8IYJ7;P11511	.;CP19A_HUMAN	I	1	ENSP00000379683:M1I;ENSP00000260433:M1I;ENSP00000379685:M1I;ENSP00000390614:M1I;ENSP00000383930:M1I;ENSP00000391139:M1I;ENSP00000384389:M1I	ENSP00000260433:M1I	M	-	3	0	CYP19A1	49322399	1.000000	0.71417	0.638000	0.29380	0.721000	0.41392	3.883000	0.56168	2.592000	0.87571	0.563000	0.77884	ATG		PASS	0.473	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		Missense_Mutation	7	128	7	128	---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55516101	55516101	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:55516101G>T	ENST00000396307.2	-	5	704	c.453C>A	c.(451-453)ctC>ctA	p.L151L	RAB27A_ENST00000569493.1_Silent_p.L151L|RAB27A_ENST00000336787.1_Silent_p.L151L|RAB27A_ENST00000564609.1_Silent_p.L151L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	151					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L151L(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ATTTCTCTGCGAGTGCTATGG	0.388																																						uc002aco.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(451-453)CTC>CTA		Ras-related protein Rab-27A							178.0	182.0	181.0					15																	55516101		2193	4292	6485	SO:0001819	synonymous_variant	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55516101G>T	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.453C>A	15.37:g.55516101G>T						RAB27A_uc002acr.2_Silent_p.L151L|RAB27A_uc002acp.2_Silent_p.L151L|RAB27A_uc002acq.2_Silent_p.L151L	p.L151L	NM_183234	NP_899057	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	686	-			151					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Silent	SNP	ENST00000396307.2	37	c.453C>A	CCDS10153.1																																																																																				PASS	0.388	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		9	204	9	204	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57458628	57458628	+	Silent	SNP	C	C	A	rs147522860		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:57458628C>A	ENST00000267811.5	+	6	658	c.354C>A	c.(352-354)tcC>tcA	p.S118S	TCF12_ENST00000438423.2_Silent_p.S118S|TCF12_ENST00000557843.1_Silent_p.S118S|TCF12_ENST00000333725.5_Silent_p.S118S|TCF12_ENST00000452095.2_Silent_p.S114S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	118					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.S118S(4)|p.S114S(2)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTCATTTTCCCTGTACAGCA	0.308			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		6	Substitution - coding silent(6)		lung(3)|kidney(3)	central_nervous_system(5)|ovary(2)|lung(1)	8						c.(352-354)TCC>TCA		transcription factor 12 isoform b							91.0	103.0	99.0					15																	57458628		2192	4286	6478	SO:0001819	synonymous_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57458628C>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.354C>A	15.37:g.57458628C>A						TCF12_uc010ugm.1_Silent_p.S170S|TCF12_uc010ugn.1_Silent_p.S114S|TCF12_uc002aea.2_Silent_p.S118S|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Silent_p.S118S|TCF12_uc002aed.2_Silent_p.S118S	p.S118S	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	6	638	+		Colorectal(260;0.0907)	118					Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	c.354C>A	CCDS10159.1																																																																																				PASS	0.308	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		9	238	9	238	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57730260	57730260	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:57730260C>A	ENST00000281282.5	+	2	141	c.63C>A	c.(61-63)ctC>ctA	p.L21L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	21	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.L21L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATCTGAGACTCGCAAGTGATG	0.493																																						uc002aeg.2																			1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(4)|central_nervous_system(1)	11						c.(61-63)CTC>CTA		cingulin-like 1							174.0	183.0	180.0					15																	57730260		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57730260C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.63C>A	15.37:g.57730260C>A						CGNL1_uc010bfw.2_Silent_p.L21L	p.L21L	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	139	+			21			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.63C>A	CCDS10161.1																																																																																				PASS	0.493	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		6	112	6	112	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62241690	62241690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:62241690C>A	ENST00000261517.5	-	42	4784	c.4711G>T	c.(4711-4713)Gag>Tag	p.E1571*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E1528*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E1528*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E1571*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E1571*(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGTTTCAGCTCGGATTCCTTC	0.368																																						uc002agz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(4711-4713)GAG>TAG		vacuolar protein sorting 13C protein isoform 2A							75.0	79.0	78.0					15																	62241690		2203	4300	6503	SO:0001587	stop_gained	54832				protein localization			g.chr15:62241690C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4711G>T	15.37:g.62241690C>A	ENSP00000261517:p.Glu1571*					VPS13C_uc002aha.2_Nonsense_Mutation_p.E1528*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E1571*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E1528*	p.E1571*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			42	4785	-			1571						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.4711G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	42	9.495818	0.99187	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.77	4.85	0.62838	.	0.395733	0.28453	N	0.015294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	11.7438	0.51809	0.0:0.9178:0.0:0.0822	.	.	.	.	X	1528;1571;1571;1571	.	ENSP00000249837:E1528X	E	-	1	0	VPS13C	60028982	0.022000	0.18835	0.770000	0.31555	0.330000	0.28571	0.886000	0.28241	1.434000	0.47414	0.655000	0.94253	GAG		PASS	0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	118	6	118	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63031711	63031711	+	Silent	SNP	C	C	T	rs560735833	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:63031711C>T	ENST00000561311.1	+	30	4082	c.3852C>T	c.(3850-3852)ctC>ctT	p.L1284L	TLN2_ENST00000306829.6_Silent_p.L1284L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1284					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1284L(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGAATTCCTCGATGCTGGCA	0.547													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19904	0.0		0.0	False		,,,				2504	0.0					uc002alb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(3850-3852)CTC>CTT		talin 2							124.0	115.0	118.0					15																	63031711		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63031711C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3852C>T	15.37:g.63031711C>T						TLN2_uc002alc.3_5'Flank	p.L1284L	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			28	3852	+			1284					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.3852C>T	CCDS32261.1																																																																																				PASS	0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			15	44	15	44	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63069108	63069108	+	Splice_Site	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:63069108A>T	ENST00000561311.1	+	42	5743	c.5513A>T	c.(5512-5514)aAg>aTg	p.K1838M	TLN2_ENST00000306829.6_Splice_Site_p.K1838M|TLN2_ENST00000472902.1_Splice_Site_p.K231M			Q9Y4G6	TLN2_HUMAN	talin 2	1838					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K1838M(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCATGAGCAAGGTGGGCATG	0.572																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(5512-5514)AAG>ATG		talin 2							88.0	70.0	76.0					15																	63069108		2203	4300	6503	SO:0001630	splice_region_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63069108A>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5514+1A>T	15.37:g.63069108A>T						TLN2_uc002alc.3_Missense_Mutation_p.K231M|TLN2_uc002ald.2_Missense_Mutation_p.K231M	p.K1838M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			40	5513	+			1838					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5513A>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921284	0.52653	.	.	ENSG00000171914	ENST00000306829	T	0.69685	-0.42	5.48	5.48	0.80851	.	0.141691	0.64402	D	0.000005	T	0.70334	0.3212	L	0.42245	1.32	0.50313	D	0.999865	P;B	0.43633	0.813;0.375	P;B	0.52267	0.694;0.396	T	0.70015	-0.4988	10	0.41790	T	0.15	-24.8083	15.2464	0.73509	1.0:0.0:0.0:0.0	.	882;1838	G1UI21;Q9Y4G6	.;TLN2_HUMAN	M	1838	ENSP00000303476:K1838M	ENSP00000303476:K1838M	K	+	2	0	TLN2	60856161	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.223000	0.58587	2.076000	0.62316	0.460000	0.39030	AAG		PASS	0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation	10	28	10	28	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63958160	63958160	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:63958160G>T	ENST00000443617.2	-	42	8600	c.8513C>A	c.(8512-8514)cCa>cAa	p.P2838Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2838					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P2838Q(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCAGCTGATGGTATGTCTCC	0.468																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(8512-8514)CCA>CAA		hect domain and RCC1-like domain 1							125.0	128.0	127.0					15																	63958160		1982	4167	6149	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63958160G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8513C>A	15.37:g.63958160G>T	ENSP00000390158:p.Pro2838Gln						p.P2838Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			42	8661	-			2838					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.8513C>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806129	0.70682	.	.	ENSG00000103657	ENST00000443617	T	0.26223	1.75	5.42	5.42	0.78866	.	0.307556	0.31082	N	0.008284	T	0.26304	0.0642	L	0.34521	1.04	0.58432	D	0.999996	B	0.19445	0.036	B	0.25759	0.063	T	0.05338	-1.0891	10	0.87932	D	0	.	19.2147	0.93772	0.0:0.0:1.0:0.0	.	2838	Q15751	HERC1_HUMAN	Q	2838	ENSP00000390158:P2838Q	ENSP00000390158:P2838Q	P	-	2	0	HERC1	61745213	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.845000	0.99498	2.529000	0.85273	0.563000	0.77884	CCA		PASS	0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		9	154	9	154	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65677303	65677303	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:65677303C>A	ENST00000352385.2	-	19	3540	c.3331G>T	c.(3331-3333)Gac>Tac	p.D1111Y	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1111Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTTATGGCGTCGTACACCAGA	0.632											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3331-3333)GAC>TAC		immunoglobulin superfamily, DCC subclass, member							75.0	88.0	84.0					15																	65677303		2200	4299	6499	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65677303C>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3331G>T	15.37:g.65677303C>A	ENSP00000319623:p.Asp1111Tyr		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_uc002aot.1_Missense_Mutation_p.D699Y	p.D1111Y	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			19	3541	-			1111			Cytoplasmic (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3331G>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012336	0.75046	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.64260	-0.09	5.1	5.1	0.69264	.	0.107851	0.40302	N	0.001132	T	0.71779	0.3380	L	0.53249	1.67	0.39728	D	0.971576	D	0.57257	0.979	P	0.58266	0.836	T	0.76176	-0.3055	10	0.72032	D	0.01	-13.0885	15.6523	0.77108	0.0:1.0:0.0:0.0	.	1111	Q8TDY8	IGDC4_HUMAN	Y	1111;840	ENSP00000319623:D1111Y	ENSP00000319623:D1111Y	D	-	1	0	IGDCC4	63464356	0.998000	0.40836	0.824000	0.32777	0.730000	0.41778	4.319000	0.59197	2.374000	0.81015	0.462000	0.41574	GAC		PASS	0.632	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		6	104	6	104	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65687505	65687505	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:65687505G>T	ENST00000352385.2	-	8	1712	c.1503C>A	c.(1501-1503)ttC>ttA	p.F501L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	501	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F501L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CCACCACGTAGAACTCATAAT	0.562																																						uc002aou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1501-1503)TTC>TTA		immunoglobulin superfamily, DCC subclass, member							104.0	98.0	100.0					15																	65687505		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65687505G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1503C>A	15.37:g.65687505G>T	ENSP00000319623:p.Phe501Leu					IGDCC4_uc002aot.1_Missense_Mutation_p.F89L	p.F501L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			8	1713	-			501			Extracellular (Potential).|Fibronectin type-III 1.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1503C>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061122	0.93846	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.59906	0.23	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77688	-0.2494	10	0.87932	D	0	-24.8054	19.6981	0.96039	0.0:0.0:1.0:0.0	.	501	Q8TDY8	IGDC4_HUMAN	L	501;230	ENSP00000319623:F501L	ENSP00000319623:F501L	F	-	3	2	IGDCC4	63474558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.852000	0.62904	2.659000	0.90383	0.563000	0.77884	TTC		PASS	0.562	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	25	5	25	---	---	---	---
RAB11A	8766	broad.mit.edu	37	15	66172017	66172017	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:66172017G>T	ENST00000261890.2	+	4	567	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C	RAB11A_ENST00000564910.1_Missense_Mutation_p.G77C|RAB11A_ENST00000565075.1_Intron|RAB11A_ENST00000435304.2_Intron|RAB11A_ENST00000569896.1_Splice_Site_p.E147*	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	147					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)	p.G147C(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGAAAAGAATGGTTTGTCATT	0.348																																						uc002apk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GGT>TGT		Ras-related protein Rab-11A							103.0	104.0	104.0					15																	66172017		2201	4299	6500	SO:0001583	missense	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66172017G>T	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.439G>T	15.37:g.66172017G>T	ENSP00000261890:p.Gly147Cys					RAB11A_uc010ujk.1_Nonsense_Mutation_p.E147*	p.G147C	NM_004663	NP_004654	P62491	RB11A_HUMAN			4	567	+			147					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	c.439G>T	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216517	0.79352	.	.	ENSG00000103769	ENST00000261890	D	0.82711	-1.64	5.32	5.32	0.75619	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	.	.	.	0.80722	D	1	B	0.18610	0.029	B	0.22753	0.041	T	0.77757	-0.2468	9	0.72032	D	0.01	.	19.0233	0.92923	0.0:0.0:1.0:0.0	.	147	P62491	RB11A_HUMAN	C	147	ENSP00000261890:G147C	ENSP00000261890:G147C	G	+	1	0	RAB11A	63959071	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.686000	0.74548	2.481000	0.83766	0.563000	0.77884	GGT		PASS	0.348	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			8	151	8	151	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238055	69238055	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:69238055C>A	ENST00000310673.3	+	2	336	c.182C>A	c.(181-183)cCa>cAa	p.P61Q	SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	61					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.P61Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTAACTCTCCAAAACATGTT	0.373																																						uc002arn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CCA>CAA		sperm equatorial segment protein 1 precursor							104.0	108.0	106.0					15																	69238055		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238055C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.182C>A	15.37:g.69238055C>A	ENSP00000312284:p.Pro61Gln					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.P61Q	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	310	+			61					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.182C>A	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971050	0.53614	.	.	ENSG00000258484	ENST00000310673	T	0.23552	1.9	5.33	4.4	0.53042	.	0.471967	0.17782	N	0.162194	T	0.30355	0.0762	L	0.29908	0.895	0.22389	N	0.999143	D	0.57571	0.98	P	0.55965	0.788	T	0.05338	-1.0891	10	0.62326	D	0.03	-2.8944	10.4675	0.44616	0.0:0.9063:0.0:0.0937	.	61	Q6UW49	SPESP_HUMAN	Q	61	ENSP00000312284:P61Q	ENSP00000312284:P61Q	P	+	2	0	SPESP1	67025109	0.271000	0.24162	0.268000	0.24571	0.011000	0.07611	1.715000	0.37971	2.652000	0.90054	0.655000	0.94253	CCA		PASS	0.373	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		7	127	7	127	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73617653	73617653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:73617653C>A	ENST00000261917.3	-	5	2716	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	575					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E575*(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCAGGGGCTCGCTTAGCTCG	0.677																																						uc002avp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|liver(1)	6						c.(1723-1725)GAG>TAG		hyperpolarization activated cyclic							37.0	43.0	41.0					15																	73617653		2198	4297	6495	SO:0001587	stop_gained	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73617653C>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1723G>T	15.37:g.73617653C>A	ENSP00000261917:p.Glu575*						p.E575*	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	5	2717	-			575			Cytoplasmic (Potential).		Q9UMQ7	Nonsense_Mutation	SNP	ENST00000261917.3	37	c.1723G>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	c	47	13.663488	0.99756	.	.	ENSG00000138622	ENST00000261917	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.1215	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	575	.	ENSP00000261917:E575X	E	-	1	0	HCN4	71404706	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.506000	0.81665	1.843000	0.53566	0.550000	0.68814	GAG		PASS	0.677	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		4	13	4	13	---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75676637	75676637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:75676637C>A	ENST00000394947.3	-	17	3477	c.3163G>T	c.(3163-3165)Gag>Tag	p.E1055*	SIN3A_ENST00000360439.4_Nonsense_Mutation_p.E1055*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.E1055*	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.E1055*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATTAGCTGCTCAGCTTTCCGC	0.483																																						uc002bai.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(3163-3165)GAG>TAG		transcriptional co-repressor Sin3A							139.0	144.0	143.0					15																	75676637		2197	4294	6491	SO:0001587	stop_gained	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75676637C>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3163G>T	15.37:g.75676637C>A	ENSP00000378402:p.Glu1055*					SIN3A_uc002baj.2_Nonsense_Mutation_p.E1055*|SIN3A_uc010uml.1_Nonsense_Mutation_p.E1055*	p.E1055*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			17	3422	-			1055						Nonsense_Mutation	SNP	ENST00000394947.3	37	c.3163G>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	43	10.431068	0.99404	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	.	.	.	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-30.876	19.5479	0.95307	0.0:1.0:0.0:0.0	.	.	.	.	X	1055	.	ENSP00000353622:E1055X	E	-	1	0	SIN3A	73463690	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.801000	0.85960	2.868000	0.98415	0.556000	0.70494	GAG		PASS	0.483	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		8	170	8	170	---	---	---	---
CIB2	10518	broad.mit.edu	37	15	78403567	78403567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:78403567G>T	ENST00000258930.3	-	3	466	c.138C>A	c.(136-138)taC>taA	p.Y46*	CIB2_ENST00000560618.1_Nonsense_Mutation_p.Y3*|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_Nonsense_Mutation_p.Y3*	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	46					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.Y46*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GGCTCTTCCTGTAGTCCATTG	0.592																																						uc002bdb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(136-138)TAC>TAA		DNA-dependent protein kinase catalytic							106.0	102.0	104.0					15																	78403567		2196	4293	6489	SO:0001587	stop_gained	10518						calcium ion binding	g.chr15:78403567G>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.138C>A	15.37:g.78403567G>T	ENSP00000258930:p.Tyr46*					CIB2_uc002bdc.1_Nonsense_Mutation_p.Y3*|CIB2_uc010ums.1_Nonsense_Mutation_p.Y46*	p.Y46*	NM_006383	NP_006374	O75838	CIB2_HUMAN			3	459	-			46					B4DDF0|H0YM71|Q05BT6	Nonsense_Mutation	SNP	ENST00000258930.3	37	c.138C>A	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	G	40	8.276752	0.98740	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	.	.	.	4.73	2.83	0.33086	.	0.072873	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-41.0517	5.195	0.15232	0.3994:0.0:0.6006:0.0	.	.	.	.	X	46;3	.	ENSP00000258930:Y46X	Y	-	3	2	CIB2	76190622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.608000	0.46308	0.986000	0.38683	0.591000	0.81541	TAC		PASS	0.592	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		5	57	5	57	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79760690	79760690	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:79760690C>A	ENST00000305428.3	+	4	2790	c.2715C>A	c.(2713-2715)ctC>ctA	p.L905L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	905						integral component of membrane (GO:0016021)		p.L905L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCGTCATCCTCGTTATTGTCG	0.453																																						uc002bew.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2713-2715)CTC>CTA		hypothetical protein LOC23251							75.0	65.0	69.0					15																	79760690		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79760690C>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2715C>A	15.37:g.79760690C>A						KIAA1024_uc010unk.1_3'UTR	p.L905L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			4	2790	+			905			Helical; (Potential).		A7MD43	Silent	SNP	ENST00000305428.3	37	c.2715C>A	CCDS32306.1																																																																																				PASS	0.453	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		4	35	4	35	---	---	---	---
FAH	2184	broad.mit.edu	37	15	80454614	80454614	+	Silent	SNP	C	C	A	rs147946196	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:80454614C>A	ENST00000407106.1	+	6	546	c.391C>A	c.(391-393)Cgg>Agg	p.R131R	FAH_ENST00000539156.1_Silent_p.R61R|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.R131R|FAH_ENST00000561421.1_Silent_p.R131R			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	131					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.R131R(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTATTCCTCTCGGCAGCATGC	0.488									Tyrosinemia, type 1																													uc002bfj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(391-393)CGG>AGG		fumarylacetoacetase							168.0	152.0	157.0					15																	80454614		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80454614C>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.391C>A	15.37:g.80454614C>A						FAH_uc002bfk.1_Silent_p.R131R|FAH_uc002bfm.1_Silent_p.R131R|FAH_uc002bfn.1_Silent_p.R61R|FAH_uc010unl.1_Nonsense_Mutation_p.S152*|FAH_uc002bfl.1_Silent_p.R131R	p.R131R	NM_000137	NP_000128	P16930	FAAA_HUMAN			6	473	+			131					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.391C>A	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	C	5.970	0.363007	0.11296	.	.	ENSG00000103876	ENST00000537726	.	.	.	4.81	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.5724	5.6491	0.17606	0.1561:0.6745:0.0:0.1693	.	.	.	.	X	152	.	ENSP00000443621:S152X	S	+	2	0	FAH	78241669	0.480000	0.25933	0.516000	0.27786	0.518000	0.34316	1.133000	0.31430	0.560000	0.29169	0.650000	0.86243	TCG		PASS	0.488	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			5	91	5	91	---	---	---	---
HOMER2	9455	broad.mit.edu	37	15	83561518	83561518	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:83561518C>A	ENST00000304231.8	-	2	273	c.81G>T	c.(79-81)gcG>gcT	p.A27A	HOMER2_ENST00000399166.2_Silent_p.A27A|HOMER2_ENST00000426485.1_Silent_p.A27A|HOMER2_ENST00000450735.2_Silent_p.A27A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	27	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.A27A(1)|p.A90A(1)		cervix(1)|endometrium(2)|lung(6)	9						CCTGCTTGCTCGCAGGCATCC	0.542																																						uc002bjg.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(79-81)GCG>GCT		homer 2 isoform 2							165.0	166.0	166.0					15																	83561518		2002	4170	6172	SO:0001819	synonymous_variant	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83561518C>A	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.81G>T	15.37:g.83561518C>A						HOMER2_uc002bjh.2_Silent_p.A27A|HOMER2_uc002bjj.2_Silent_p.A27A|HOMER2_uc002bji.2_Silent_p.A27A	p.A27A	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN			2	267	-			27			WH1.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	ENST00000304231.8	37	c.81G>T	CCDS45334.1																																																																																				PASS	0.542	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			6	95	6	95	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84373180	84373180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:84373180G>T	ENST00000286744.5	+	3	333	c.109G>T	c.(109-111)Gag>Tag	p.E37*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E37*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	37						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E37*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTCCTTCCCGAGTTTGCACT	0.463																																						uc002bjz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(109-111)GAG>TAG		ADAMTS-like 3 precursor							191.0	195.0	193.0					15																	84373180		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84373180G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.109G>T	15.37:g.84373180G>T	ENSP00000286744:p.Glu37*					ADAMTSL3_uc002bjy.1_Nonsense_Mutation_p.E37*|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E37*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E37*	p.E37*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	333	+			37					A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.109G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	38	6.979078	0.97979	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5451	0.95291	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000286744:E37X	E	+	1	0	ADAMTSL3	82164184	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	7.483000	0.81158	2.629000	0.89072	0.655000	0.94253	GAG		PASS	0.463	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		10	214	10	214	---	---	---	---
DET1	55070	broad.mit.edu	37	15	89056198	89056198	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:89056198C>T	ENST00000268148.8	-	5	1782	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000444300.1_Missense_Mutation_p.R557Q|DET1_ENST00000564406.1_Missense_Mutation_p.R557Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	546						nucleus (GO:0005634)		p.R557Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCAGCAGTGTCGCATATGGAA	0.493																																						uc002bmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(1636-1638)CGA>CAA		de-etiolated 1 isoform 2							96.0	93.0	94.0					15																	89056198		2016	4176	6192	SO:0001583	missense	55070					nucleus		g.chr15:89056198C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1637G>A	15.37:g.89056198C>T	ENSP00000268148:p.Arg546Gln					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R557Q	p.R546Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		5	1789	-	Lung NSC(78;0.105)|all_lung(78;0.182)		546					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1637G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	36	5.846518	0.97016	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.84070	0.0379	9	0.72032	D	0.01	-7.1642	19.8676	0.96824	0.0:1.0:0.0:0.0	.	546;557	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	557;546	.	ENSP00000268148:R546Q	R	-	2	0	DET1	86857202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.890000	0.69774	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		8	31	8	31	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89870503	89870503	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:89870503C>A	ENST00000268124.5	-	7	1661	c.1328G>T	c.(1327-1329)cGt>cTt	p.R443L	POLG_ENST00000442287.2_Missense_Mutation_p.R443L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	443					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.R443L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCCAGGTAACGCTCCCAGTT	0.587								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1327-1329)CGT>CTT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							64.0	57.0	59.0					15																	89870503		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89870503C>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1328G>T	15.37:g.89870503C>A	ENSP00000268124:p.Arg443Leu					POLG_uc002bnr.3_Missense_Mutation_p.R443L	p.R443L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		7	1610	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		443					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.1328G>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249985	0.95305	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.94092	-3.35;-3.35	5.0	5.0	0.66597	.	0.048184	0.85682	D	0.000000	D	0.92880	0.7735	M	0.67700	2.07	0.80722	D	1	P	0.43287	0.802	B	0.40901	0.343	D	0.93935	0.7218	10	0.72032	D	0.01	-12.7033	18.4821	0.90815	0.0:1.0:0.0:0.0	.	443	P54098	DPOG1_HUMAN	L	443	ENSP00000268124:R443L;ENSP00000399851:R443L	ENSP00000268124:R443L	R	-	2	0	POLG	87671507	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	5.738000	0.68613	2.598000	0.87819	0.491000	0.48974	CGT		PASS	0.587	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		7	27	7	27	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90977012	90977012	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:90977012G>T	ENST00000268182.5	+	5	576	c.452G>T	c.(451-453)tGt>tTt	p.C151F	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	151	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.C151F(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTATCTACTGTATCCATGCA	0.328																																						uc002bpl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(451-453)TGT>TTT		IQ motif containing GTPase activating protein 1							113.0	111.0	112.0					15																	90977012		2198	4297	6495	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90977012G>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.452G>T	15.37:g.90977012G>T	ENSP00000268182:p.Cys151Phe						p.C151F	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		5	553	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		151			CH.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.452G>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374193	0.82573	.	.	ENSG00000140575	ENST00000268182	D	0.94138	-3.36	5.28	5.28	0.74379	Calponin homology domain (5);	0.114370	0.64402	D	0.000012	D	0.97911	0.9313	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98877	1.0768	10	0.87932	D	0	-12.3997	18.0822	0.89444	0.0:0.0:1.0:0.0	.	151	P46940	IQGA1_HUMAN	F	151	ENSP00000268182:C151F	ENSP00000268182:C151F	C	+	2	0	IQGAP1	88778016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.491000	0.97954	2.744000	0.94065	0.655000	0.94253	TGT		PASS	0.328	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		8	188	8	188	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91162997	91162997	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:91162997C>A	ENST00000268184.6	+	9	728	c.724C>A	c.(724-726)Cga>Aga	p.R242R	CRTC3_ENST00000420329.2_Silent_p.R242R|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	242					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.R242R(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGACGCCCTCGATCCTGTGA	0.438			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	1	Substitution - coding silent(1)		lung(1)	salivary_gland(26)|ovary(1)	27						c.(724-726)CGA>AGA		transducer of regulated CREB protein 3 isoform							177.0	169.0	172.0					15																	91162997		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91162997C>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.724C>A	15.37:g.91162997C>A						CRTC3_uc002bpo.2_Silent_p.R242R	p.R242R	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		9	830	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		242					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.724C>A	CCDS32331.1																																																																																				PASS	0.438	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		5	87	5	87	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91795651	91795651	+	Silent	SNP	C	C	A	rs148980578	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:91795651C>A	ENST00000394232.1	+	4	1155	c.685C>A	c.(685-687)Cgg>Agg	p.R229R	SV2B_ENST00000545111.2_Silent_p.R78R|SV2B_ENST00000330276.4_Silent_p.R229R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	229					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.R229R(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATTCTTGTCTCGGGAGAAGCG	0.483																																						uc002bqv.2																			1	Substitution - coding silent(1)	p.R229R(1)	lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(685-687)CGG>AGG		synaptic vesicle protein 2B homolog							118.0	111.0	113.0					15																	91795651		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91795651C>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.685C>A	15.37:g.91795651C>A						SV2B_uc002bqt.2_Silent_p.R229R|SV2B_uc010uqv.1_Silent_p.R78R|SV2B_uc002bqu.3_RNA	p.R229R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		3	1076	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		229			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.685C>A	CCDS10370.1																																																																																				PASS	0.483	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		5	84	5	84	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98511308	98511308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:98511308C>A	ENST00000268042.6	+	4	751	c.587C>A	c.(586-588)tCg>tAg	p.S196*	ARRDC4_ENST00000538249.1_Nonsense_Mutation_p.S109*	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	196					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.S196*(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)			GGTCCAGTCTCGCTGAGTGCC	0.333																																						uc010bom.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(586-588)TCG>TAG		arrestin domain containing 4							101.0	109.0	106.0					15																	98511308		2197	4298	6495	SO:0001587	stop_gained	91947				signal transduction			g.chr15:98511308C>A	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.587C>A	15.37:g.98511308C>A	ENSP00000268042:p.Ser196*					ARRDC4_uc002bui.3_Nonsense_Mutation_p.S109*	p.S196*	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		4	746	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		196					Q6NSI9	Nonsense_Mutation	SNP	ENST00000268042.6	37	c.587C>A	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512910	0.98329	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2086	19.782	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	109;196	.	ENSP00000268042:S196X	S	+	2	0	ARRDC4	96312312	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.745000	0.68672	2.672000	0.90937	0.650000	0.86243	TCG		PASS	0.333	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		5	131	5	131	---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102241364	102241364	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:102241364G>T	ENST00000335968.3	-	10	1461	c.1245C>A	c.(1243-1245)caC>caA	p.H415Q		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	415					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.H415Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACTCAAATCGTGGAAAAAGA	0.318																																						uc002bxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1243-1245)CAC>CAA		threonyl-tRNA synthetase-like 2							46.0	48.0	47.0					15																	102241364		2203	4298	6501	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102241364G>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1245C>A	15.37:g.102241364G>T	ENSP00000338093:p.His415Gln					TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA	p.H415Q	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1300	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		415					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1245C>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	g	15.77	2.932852	0.52866	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.7	-4.09	0.03951	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.61387	1.9	0.53005	D	0.999965	D	0.76494	0.999	D	0.74348	0.983	T	0.62987	-0.6737	9	0.30078	T	0.28	-22.4996	11.0635	0.47961	0.5895:0.0:0.4105:0.0	.	415	A2RTX5	SYTC2_HUMAN	Q	415;320;415	.	ENSP00000329291:H320Q	H	-	3	2	TARSL2	100058887	0.999000	0.42202	0.952000	0.39060	0.931000	0.56810	0.839000	0.27586	-1.055000	0.03209	-2.004000	0.00443	CAC		PASS	0.318	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		5	78	5	78	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2817786	2817786	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:2817786G>T	ENST00000301740.8	+	11	7806	c.7257G>T	c.(7255-7257)atG>atT	p.M2419I	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2419	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.M2419I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATCTAGGATGACCTCTGAAC	0.597																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7255-7257)ATG>ATT		splicing coactivator subunit SRm300							79.0	68.0	72.0					16																	2817786		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817786G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7257G>T	16.37:g.2817786G>T	ENSP00000301740:p.Met2419Ile					SRRM2_uc002crj.1_Missense_Mutation_p.M2323I|SRRM2_uc002crl.1_Missense_Mutation_p.M2419I|SRRM2_uc010bsu.1_Missense_Mutation_p.M2323I	p.M2419I	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	7806	+			2419			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7257G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	5.832	0.337796	0.11013	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.77489	-1.1	5.91	4.96	0.65561	.	0.311085	0.33110	N	0.005275	T	0.63733	0.2536	L	0.29908	0.895	0.27808	N	0.942248	B	0.06786	0.001	B	0.09377	0.004	T	0.48328	-0.9045	10	0.21014	T	0.42	-1.5388	10.0085	0.41972	0.0891:0.0:0.9109:0.0	.	2419	Q9UQ35	SRRM2_HUMAN	I	2419;1671	ENSP00000301740:M2419I	ENSP00000301740:M2419I	M	+	3	0	SRRM2	2757787	0.976000	0.34144	0.957000	0.39632	0.418000	0.31294	1.677000	0.37576	2.808000	0.96608	0.655000	0.94253	ATG		PASS	0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	18	5	18	---	---	---	---
ZNF174	7727	broad.mit.edu	37	16	3452089	3452089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:3452089G>T	ENST00000268655.4	+	1	670	c.85G>T	c.(85-87)Gag>Tag	p.E29*	ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Nonsense_Mutation_p.E29*|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000572544.1_Nonsense_Mutation_p.E29*|ZNF174_ENST00000344823.5_Nonsense_Mutation_p.E29*|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000575752.1_Nonsense_Mutation_p.E29*	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	29					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E29*(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CAAACTAGAAGAGAAACGGGG	0.488																																						uc002cvc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(85-87)GAG>TAG		zinc finger protein 174 isoform a							137.0	155.0	149.0					16																	3452089		2197	4300	6497	SO:0001587	stop_gained	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452089G>T	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.85G>T	16.37:g.3452089G>T	ENSP00000268655:p.Glu29*					ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Nonsense_Mutation_p.E29*|ZNF174_uc002cvb.2_Nonsense_Mutation_p.E29*	p.E29*	NM_003450	NP_003441	Q15697	ZN174_HUMAN			1	900	+			29					Q53Y68|Q9BQ34	Nonsense_Mutation	SNP	ENST00000268655.4	37	c.85G>T	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	43	10.155788	0.99349	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	.	.	.	4.5	4.5	0.54988	.	0.315046	0.23502	N	0.047484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.0168	0.58762	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000268655:E29X	E	+	1	0	ZNF174	3392090	0.998000	0.40836	0.905000	0.35620	0.725000	0.41563	3.217000	0.51184	2.790000	0.95986	0.655000	0.94253	GAG		PASS	0.488	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		8	157	8	157	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3843455	3843455	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:3843455G>C	ENST00000262367.5	-	4	1957	c.1148C>G	c.(1147-1149)cCg>cGg	p.P383R	CREBBP_ENST00000382070.3_Missense_Mutation_p.P383R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	383	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P383R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGACAATGCGGGAGCGAGCA	0.498			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1147-1149)CCG>CGG		CREB binding protein isoform a							163.0	139.0	147.0					16																	3843455		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3843455G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1148C>G	16.37:g.3843455G>C	ENSP00000262367:p.Pro383Arg					CREBBP_uc002cvw.2_Missense_Mutation_p.P383R	p.P383R	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	4	1352	-		Ovarian(90;0.0266)	383			TAZ-type 1.|Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1148C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995362	0.74703	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.86366	-2.11;-2.11	5.91	5.91	0.95273	Zinc finger, TAZ-type (5);	0.000000	0.64402	D	0.000001	D	0.93354	0.7881	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.92206	0.5772	10	0.46703	T	0.11	-17.877	20.2985	0.98592	0.0:0.0:1.0:0.0	.	451;383	Q4LE28;Q92793	.;CBP_HUMAN	R	383;451;383	ENSP00000262367:P383R;ENSP00000371502:P383R	ENSP00000262367:P383R	P	-	2	0	CREBBP	3783456	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	CCG		PASS	0.498	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		24	69	24	69	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857519	9857519	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:9857519G>T	ENST00000396573.2	-	14	4191	c.3882C>A	c.(3880-3882)aaC>aaA	p.N1294K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.N1294K|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.N1294K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1294					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N1294K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTCGACAATGTTATCGTAGG	0.527																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3880-3882)AAC>AAA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						137.0	117.0	124.0					16																	9857519		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857519G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3882C>A	16.37:g.9857519G>T	ENSP00000379818:p.Asn1294Lys					GRIN2A_uc010uym.1_Missense_Mutation_p.N1294K|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	p.N1294K	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4430	-			1294			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3882C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880461	0.51801	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.13420	2.59;2.59;2.59	5.81	4.86	0.63082	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.04752	-1.0929	9	.	.	.	.	10.1267	0.42654	0.1664:0.0:0.8336:0.0	.	1294	Q12879	NMDE1_HUMAN	K	1294	ENSP00000379818:N1294K;ENSP00000332549:N1294K;ENSP00000379820:N1294K	.	N	-	3	2	GRIN2A	9765020	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.121000	0.50438	1.464000	0.47987	0.655000	0.94253	AAC		PASS	0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	79	5	79	---	---	---	---
EMP2	2013	broad.mit.edu	37	16	10631855	10631855	+	Silent	SNP	G	G	A	rs375756110		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:10631855G>A	ENST00000359543.3	-	4	455	c.246C>T	c.(244-246)ttC>ttT	p.F82F	EMP2_ENST00000536829.1_Silent_p.F82F	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	82					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)	p.F82F(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCTGGAGCACGAAGATGAAGA	0.557																																					GBM(158;2021 2691 14714 39478)	uc002czx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)TTC>TTT		epithelial membrane protein 2							167.0	157.0	160.0					16																	10631855		2197	4300	6497	SO:0001819	synonymous_variant	2013				cell proliferation	integral to membrane		g.chr16:10631855G>A	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.246C>T	16.37:g.10631855G>A							p.F82F	NM_001424	NP_001415	P54851	EMP2_HUMAN			4	440	-			82			Helical; (Potential).		B2R7V6|D3DUF8	Silent	SNP	ENST00000359543.3	37	c.246C>T	CCDS10541.1																																																																																				PASS	0.557	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		10	85	10	85	---	---	---	---
ZC3H7A	29066	broad.mit.edu	37	16	11859381	11859381	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:11859381G>T	ENST00000396516.2	-	13	1880	c.1683C>A	c.(1681-1683)ctC>ctA	p.L561L	ZC3H7A_ENST00000355758.4_Silent_p.L561L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	561						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L561L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATGCTCCTGGAGAAGTTTGA	0.443																																						uc002dbk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1681-1683)CTC>CTA		zinc finger CCCH-type containing 7A							88.0	92.0	91.0					16																	11859381		2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11859381G>T	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1683C>A	16.37:g.11859381G>T						ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.L561L|ZC3H7A_uc002dbm.1_Silent_p.L471L	p.L561L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN			13	1881	-			561					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.1683C>A	CCDS10550.1																																																																																				PASS	0.443	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		7	122	7	122	---	---	---	---
GDE1	51573	broad.mit.edu	37	16	19522230	19522230	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:19522230C>A	ENST00000353258.3	-	3	654	c.474G>T	c.(472-474)agG>agT	p.R158S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	158	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.R158S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CAACAGCTTCCCTTAGGGTAG	0.383																																						uc002dgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(472-474)AGG>AGT		glycerophosphodiester phosphodiesterase 1							186.0	177.0	180.0					16																	19522230		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19522230C>A		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.474G>T	16.37:g.19522230C>A	ENSP00000261386:p.Arg158Ser					GDE1_uc002dgi.2_Missense_Mutation_p.R48S	p.R158S	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN			3	638	-			158			Lumenal (Potential).|GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.474G>T	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977734	0.34848	.	.	ENSG00000006007	ENST00000353258	T	0.27720	1.65	5.99	2.9	0.33743	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.428737	0.29900	N	0.010912	T	0.19805	0.0476	N	0.21583	0.68	0.37933	D	0.932087	B	0.13594	0.008	B	0.18263	0.021	T	0.07366	-1.0776	10	0.49607	T	0.09	-13.3618	8.9302	0.35666	0.0:0.683:0.0:0.317	.	158	Q9NZC3	GDE1_HUMAN	S	158	ENSP00000261386:R158S	ENSP00000261386:R158S	R	-	3	2	GDE1	19429731	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	0.776000	0.26704	0.764000	0.33197	0.591000	0.81541	AGG		PASS	0.383	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		8	184	8	184	---	---	---	---
CCP110	9738	broad.mit.edu	37	16	19548085	19548085	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:19548085C>A	ENST00000381396.5	+	4	1341	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	CCP110_ENST00000396212.2_Missense_Mutation_p.P365H|CCP110_ENST00000396208.2_Missense_Mutation_p.P365H	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	365	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.P365H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GCCAAATTACCTAGTCCAGAG	0.368																																						uc002dgl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)CCT>CAT		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							51.0	51.0	51.0					16																	19548085		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19548085C>A	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.1094C>A	16.37:g.19548085C>A	ENSP00000370803:p.Pro365His					CP110_uc002dgk.3_Missense_Mutation_p.P365H	p.P365H			O43303	CP110_HUMAN			4	1341	+			365			Interaction with CEP76.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.1094C>A	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202604	0.79127	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.54675	0.56;0.56;0.56	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	L	0.59436	1.845	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71659	-0.4526	10	0.87932	D	0	-11.4231	20.6593	0.99626	0.0:1.0:0.0:0.0	.	365;365	O43303;O43303-2	CP110_HUMAN;.	H	365	ENSP00000379515:P365H;ENSP00000370803:P365H;ENSP00000379511:P365H	ENSP00000370803:P365H	P	+	2	0	CCP110	19455586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.885000	0.99019	0.655000	0.94253	CCT		PASS	0.368	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		5	34	5	34	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.A274S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552																																						uc002dgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(820-822)GCC>TCC		G protein-coupled receptor 139							88.0	89.0	89.0					16																	20043299		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043299C>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.820G>T	16.37:g.20043299C>A	ENSP00000458791:p.Ala274Ser					GPR139_uc010vaw.1_Missense_Mutation_p.A181S	p.A274S	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	982	-			274			Helical; Name=7; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.820G>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209851	0.79240	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63972	-0.6516	9	0.06365	T	0.9	-38.6886	19.1302	0.93402	0.0:1.0:0.0:0.0	.	274	Q6DWJ6	GP139_HUMAN	S	274	.	ENSP00000370779:A274S	A	-	1	0	GPR139	19950800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	GCC		PASS	0.552	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		7	53	7	53	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20693762	20693762	+	Missense_Mutation	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:20693762T>A	ENST00000307493.4	-	3	494	c.427A>T	c.(427-429)Atc>Ttc	p.I143F	ACSM1_ENST00000520010.1_Missense_Mutation_p.I143F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	143					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.I143F(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCAACAGGATGGTCGCAGGA	0.473																																						uc002dhm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(427-429)ATC>TTC		acyl-CoA synthetase medium-chain family member							85.0	72.0	76.0					16																	20693762		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20693762T>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.427A>T	16.37:g.20693762T>A	ENSP00000301956:p.Ile143Phe					ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.I143F	p.I143F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			3	495	-			143					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.427A>T	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554059	0.27739	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.49432	0.78;0.78;0.78	4.53	2.11	0.27256	AMP-dependent synthetase/ligase (1);	0.273783	0.26207	N	0.025714	T	0.24275	0.0588	N	0.16656	0.425	0.09310	N	0.999991	B	0.31026	0.304	B	0.26202	0.067	T	0.15549	-1.0433	10	0.87932	D	0	.	2.412	0.04427	0.1804:0.0883:0.1305:0.6008	.	143	Q08AH1	ACSM1_HUMAN	F	143	ENSP00000301956:I143F;ENSP00000428047:I143F;ENSP00000428830:I143F	ENSP00000301956:I143F	I	-	1	0	ACSM1	20601263	0.544000	0.26441	0.015000	0.15790	0.000000	0.00434	1.080000	0.30779	0.875000	0.35847	-0.322000	0.08575	ATC		PASS	0.473	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		8	41	8	41	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20800840	20800840	+	Intron	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:20800840C>A	ENST00000289416.5	+	10	1699				ACSM3_ENST00000450120.2_Intron|ERI2_ENST00000300005.3_Missense_Mutation_p.M285I|ACSM3_ENST00000567387.1_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.M285I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						cctgtttactcatattgggct	0.388																																						uc002dhs.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(853-855)ATG>ATT		exoribonuclease 2 isoform 2							215.0	198.0	204.0					16																	20800840		2201	4300	6501	SO:0001627	intron_variant	112479					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	g.chr16:20800840C>A	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1225-1069C>A	16.37:g.20800840C>A						ACSM3_uc002dhr.2_Intron|ACSM3_uc010vba.1_Intron	p.M285I	NM_080663	NP_542394	A8K979	ERI2_HUMAN			10	898	-			Error:Variant_position_missing_in_A8K979_after_alignment					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.855G>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	c	3.965	-0.009440	0.07727	.	.	ENSG00000196678	ENST00000300005	.	.	.	1.74	-3.48	0.04739	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	7	0.02654	T	1	.	1.3409	0.02154	0.1701:0.4058:0.1715:0.2526	.	285	A8K979-4	.	I	285	.	ENSP00000300005:M285I	M	-	3	0	ERI2	20708341	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.936000	0.01549	-2.109000	0.00838	-0.346000	0.07831	ATG		PASS	0.388	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		8	122	8	122	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975912	20975912	+	Silent	SNP	C	C	A	rs199799884		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:20975912C>A	ENST00000261383.3	-	53	9293	c.9294G>T	c.(9292-9294)gcG>gcT	p.A3098A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3098	AAA 5. {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)|microtubule motor activity (GO:0003777)	p.A3098A(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTTTATTCGCCTTCTCCA	0.468																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9292-9294)GCG>GCT		dynein, axonemal, heavy chain 3							133.0	126.0	128.0					16																	20975912		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975912C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9294G>T	16.37:g.20975912C>A						DNAH3_uc010vbd.1_Silent_p.A533A	p.A3098A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9294	-			3098			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9294G>T	CCDS10594.1																																																																																				PASS	0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		6	103	6	103	---	---	---	---
IGSF6	10261	broad.mit.edu	37	16	21654427	21654427	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:21654427G>T	ENST00000268389.4	-	5	695	c.634C>A	c.(634-636)Cat>Aat	p.H212N	METTL9_ENST00000358154.3_Intron|RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000396014.4_Intron|RNU6-196P_ENST00000384315.1_RNA	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	212					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.H212N(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGTCTCTTATGGTATAGTTCT	0.318																																						uc002djg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CAT>AAT		immunoglobulin superfamily, member 6 precursor							95.0	95.0	95.0					16																	21654427		2198	4300	6498	SO:0001583	missense	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21654427G>T	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.634C>A	16.37:g.21654427G>T	ENSP00000268389:p.His212Asn					uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	p.H212N	NM_005849	NP_005840	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	5	687	-			212			Cytoplasmic (Potential).		Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.634C>A	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155188	0.21371	.	.	ENSG00000140749	ENST00000268389	T	0.23552	1.9	6.06	5.08	0.68730	.	0.508736	0.21093	N	0.080289	T	0.16041	0.0386	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.13470	T	0.59	-10.178	10.8474	0.46751	0.0:0.0:0.7367:0.2633	.	212	O95976	IGSF6_HUMAN	N	212	ENSP00000268389:H212N	ENSP00000268389:H212N	H	-	1	0	IGSF6	21561928	0.162000	0.22906	0.178000	0.23040	0.974000	0.67602	2.331000	0.43894	1.424000	0.47217	0.650000	0.86243	CAT		PASS	0.318	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			7	118	7	118	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24192229	24192229	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:24192229C>A	ENST00000321728.7	+	13	1688	c.1513C>A	c.(1513-1515)Cca>Aca	p.P505T	PRKCB_ENST00000303531.7_Missense_Mutation_p.P505T	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P505T(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGTGGCACTCCAGACTACAT	0.547																																						uc002dmd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1513-1515)CCA>ACA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						158.0	141.0	147.0					16																	24192229		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24192229C>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1513C>A	16.37:g.24192229C>A	ENSP00000318315:p.Pro505Thr					PRKCB_uc002dme.2_Missense_Mutation_p.P505T	p.P505T	NM_212535	NP_997700	P05771	KPCB_HUMAN			13	1710	+			505			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1513C>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253719	0.95336	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.29142	1.58;1.58	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60156	-0.7318	10	0.87932	D	0	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	505;505	P05771-2;P05771	.;KPCB_HUMAN	T	505	ENSP00000318315:P505T;ENSP00000305355:P505T	ENSP00000305355:P505T	P	+	1	0	PRKCB	24099730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	CCA		PASS	0.547	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	53	5	53	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734566	28734566	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:28734566C>A	ENST00000331666.6	+	9	1044	c.858C>A	c.(856-858)tcC>tcA	p.S286S	EIF3C_ENST00000566866.1_Silent_p.S286S|EIF3C_ENST00000564243.1_Silent_p.S276S|EIF3C_ENST00000566501.1_Silent_p.S286S|EIF3C_ENST00000395587.1_Silent_p.S286S					eukaryotic translation initiation factor 3, subunit C									p.S286S(2)		lung(5)|skin(1)	6						ACAGGAAATCCAAGCGCCTGG	0.567																																						uc010byj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(856-858)TCC>TCA		eukaryotic translation initiation factor 3,							369.0	412.0	398.0					16																	28734566		2197	4300	6497	SO:0001819	synonymous_variant	728689					eukaryotic translation initiation factor 3 complex	translation initiation factor activity	g.chr16:28734566C>A	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.858C>A	16.37:g.28734566C>A						uc010vct.1_Intron|EIF3CL_uc010byi.2_Silent_p.S286S|EIF3CL_uc002dqs.3_Silent_p.S286S|EIF3C_uc002dqt.3_Silent_p.S286S|EIF3CL_uc010vcy.1_Silent_p.S276S|EIF3C_uc002dqu.3_Silent_p.S286S|EIF3CL_uc002dqv.3_Silent_p.S32S	p.S286S	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN			9	947	+			286						Silent	SNP	ENST00000331666.6	37	c.858C>A	CCDS10638.1																																																																																				PASS	0.567	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		11	333	11	333	---	---	---	---
KIF22	3835	broad.mit.edu	37	16	29810339	29810339	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:29810339G>T	ENST00000160827.4	+	5	633	c.593G>T	c.(592-594)cGa>cTa	p.R198L	KIF22_ENST00000400751.5_Missense_Mutation_p.R130L|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Missense_Mutation_p.R130L|KIF22_ENST00000569382.2_Missense_Mutation_p.R130L	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	198	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)	p.R198L(1)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CTGGTAATCCGAGAAGACTGC	0.537																																						uc002dts.3																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)CGA>CTA		kinesin family member 22							93.0	101.0	98.0					16																	29810339		2197	4296	6493	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810339G>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.593G>T	16.37:g.29810339G>T	ENSP00000160827:p.Arg198Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.R130L|KIF22_uc010vdw.1_Missense_Mutation_p.R130L|KIF22_uc010bzf.2_Missense_Mutation_p.R130L	p.R198L	NM_007317	NP_015556	Q14807	KIF22_HUMAN			5	617	+			198			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.593G>T	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768880	0.90020	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.73363	-0.74;-0.74	5.95	5.95	0.96441	Kinesin, motor domain (4);	.	.	.	.	T	0.80752	0.4683	L	0.52573	1.65	0.80722	D	1	P;P	0.46952	0.453;0.887	P;P	0.54664	0.529;0.758	T	0.81462	-0.0922	9	0.87932	D	0	.	17.8714	0.88812	0.0:0.0:1.0:0.0	.	130;198	B7Z265;Q14807	.;KIF22_HUMAN	L	198;130	ENSP00000160827:R198L;ENSP00000383562:R130L	ENSP00000160827:R198L	R	+	2	0	KIF22	29717840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.454000	0.90352	2.819000	0.97034	0.655000	0.94253	CGA		PASS	0.537	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			6	103	6	103	---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30006065	30006065	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:30006065C>A	ENST00000279392.3	-	4	1231	c.401G>T	c.(400-402)cGa>cTa	p.R134L	INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	134	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.R134L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTTGAGGCTCGCCTTGGATT	0.597																																						uc002dve.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(400-402)CGA>CTA		HIRA interacting protein 3							109.0	115.0	113.0					16																	30006065		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006065C>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.401G>T	16.37:g.30006065C>A	ENSP00000279392:p.Arg134Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	p.R134L	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			4	862	-			134			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.401G>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	7.711	0.695109	0.15039	.	.	ENSG00000149929	ENST00000279392	T	0.38240	1.15	4.25	-8.51	0.00923	.	2.750350	0.01281	N	0.009731	T	0.21062	0.0507	L	0.34521	1.04	0.09310	N	0.999995	P	0.38827	0.649	B	0.32090	0.14	T	0.23119	-1.0197	10	0.37606	T	0.19	4.6865	5.885	0.18876	0.0791:0.1038:0.3142:0.5028	.	134	Q9BW71	HIRP3_HUMAN	L	134	ENSP00000279392:R134L	ENSP00000279392:R134L	R	-	2	0	HIRIP3	29913566	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	-4.329000	0.00252	-3.407000	0.00169	-0.469000	0.05056	CGA		PASS	0.597	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		6	108	6	108	---	---	---	---
C16orf93	90835	broad.mit.edu	37	16	30770363	30770363	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:30770363C>G	ENST00000543610.1	-	8	1748	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Missense_Mutation_p.E328Q|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	263								p.E226Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GCCACTGTCTCTAGTTCCTCT	0.562																																						uc002dzm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(787-789)GAG>CAG		hypothetical protein LOC90835							208.0	189.0	196.0					16																	30770363		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30770363C>G	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.787G>C	16.37:g.30770363C>G	ENSP00000437532:p.Glu263Gln					C16orf93_uc002dzn.2_Missense_Mutation_p.E328Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E226Q	p.E263Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			8	1118	-			263					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.787G>C	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579175	0.46006	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	4.86	3.92	0.45320	.	0.245767	0.32769	N	0.005669	T	0.39172	0.1068	N	0.19112	0.55	0.30703	N	0.750139	B;D;B	0.57257	0.358;0.979;0.343	B;P;B	0.57960	0.087;0.83;0.118	T	0.30119	-0.9989	9	0.29301	T	0.29	-6.9661	9.255	0.37577	0.0:0.9021:0.0:0.0979	.	226;35;263	A1A4V9-2;A1A4V9-3;A1A4V9	.;.;CP093_HUMAN	Q	226;263	.	ENSP00000347050:E226Q	E	-	1	0	C16orf93	30677864	0.206000	0.23470	0.023000	0.16930	0.043000	0.13939	2.153000	0.42282	1.417000	0.47077	0.655000	0.94253	GAG		PASS	0.562	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		19	119	19	119	---	---	---	---
C16orf93	90835	broad.mit.edu	37	16	30771025	30771025	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:30771025C>G	ENST00000543610.1	-	5	1451	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Missense_Mutation_p.E164Q|PHKG2_ENST00000424889.3_Intron|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	164								p.E127Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TAGCACTCCTCCACGTTGCCC	0.517																																						uc002dzm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GAG>CAG		hypothetical protein LOC90835							92.0	82.0	85.0					16																	30771025		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30771025C>G	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.490G>C	16.37:g.30771025C>G	ENSP00000437532:p.Glu164Gln					C16orf93_uc002dzn.2_Missense_Mutation_p.E164Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E127Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	p.E164Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			5	821	-			164					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.490G>C	CCDS32434.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.648057|4.648057	0.87958|0.87958	.|.	.|.	ENSG00000196118|ENSG00000196118	ENST00000354963;ENST00000543610|ENST00000535476	.|.	.|.	.|.	5.34|5.34	4.39|4.39	0.52855|0.52855	.|.	0.134101|.	0.49305|.	D|.	0.000148|.	T|T	0.55257|0.55257	0.1909|0.1909	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.992|.	P;P|.	0.54544|.	0.755;0.755|.	T|T	0.51108|0.51108	-0.8747|-0.8747	9|5	0.35671|.	T|.	0.21|.	-25.9311|-25.9311	12.9364|12.9364	0.58316|0.58316	0.0:0.9202:0.0:0.0798|0.0:0.9202:0.0:0.0798	.|.	127;164|.	A1A4V9-2;A1A4V9|.	.;CP093_HUMAN|.	Q|C	127;164|60	.|.	ENSP00000347050:E127Q|.	E|W	-|-	1|3	0|0	C16orf93|C16orf93	30678526|30678526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.912000|6.912000	0.75753|0.75753	1.250000|1.250000	0.43966|0.43966	0.561000|0.561000	0.74099|0.74099	GAG|TGG		PASS	0.517	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		4	27	4	27	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30991034	30991034	+	Silent	SNP	G	G	C	rs532680436		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:30991034G>C	ENST00000262519.8	+	14	4613	c.3927G>C	c.(3925-3927)acG>acC	p.T1309T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1309					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T1309T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCAAGCCCACGCCCCCTGCGC	0.706																																						uc002ead.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3925-3927)ACG>ACC		SET domain containing 1A							13.0	17.0	16.0					16																	30991034		2167	4254	6421	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991034G>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3927G>C	16.37:g.30991034G>C							p.T1309T	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4613	+			1309					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.3927G>C	CCDS32435.1																																																																																				PASS	0.706	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		3	18	3	18	---	---	---	---
DNAJA2	10294	broad.mit.edu	37	16	46991042	46991042	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:46991042G>T	ENST00000317089.5	-	9	1353	c.1138C>A	c.(1138-1140)Cga>Aga	p.R380R		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	380					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R380R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCTGAGCCTCGAGTGCTATCA	0.463																																						uc002eeo.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1138-1140)CGA>AGA		DnaJ subfamily A member 2							264.0	258.0	260.0					16																	46991042		2203	4300	6503	SO:0001819	synonymous_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46991042G>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1138C>A	16.37:g.46991042G>T						DNAJA2_uc002eep.2_Silent_p.R297R	p.R380R	NM_005880	NP_005871	O60884	DNJA2_HUMAN			9	1280	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	380					B2R7L7|O14711	Silent	SNP	ENST00000317089.5	37	c.1138C>A	CCDS10726.1																																																																																				PASS	0.463	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			9	227	9	227	---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48290549	48290549	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:48290549C>G	ENST00000285737.4	+	3	590	c.497C>G	c.(496-498)cCt>cGt	p.P166R	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.P166R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATGTCTGTCCCTGCAGTTGCT	0.353																																						uc002efi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CCT>CGT		peroxisomal LON protease-like							103.0	102.0	102.0					16																	48290549		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48290549C>G	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.497C>G	16.37:g.48290549C>G	ENSP00000285737:p.Pro166Arg					LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	p.P166R	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			3	586	+			166			Lon.			Missense_Mutation	SNP	ENST00000285737.4	37	c.497C>G	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126950	0.77549	.	.	ENSG00000102910	ENST00000285737	T	0.43688	0.94	5.05	5.05	0.67936	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.053660	0.85682	D	0.000000	T	0.63838	0.2545	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67154	-0.5742	10	0.72032	D	0.01	-17.0734	18.4046	0.90529	0.0:1.0:0.0:0.0	.	166	Q86WA8	LONP2_HUMAN	R	166	ENSP00000285737:P166R	ENSP00000285737:P166R	P	+	2	0	LONP2	46848050	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.372000	0.79612	2.347000	0.79759	0.467000	0.42956	CCT		PASS	0.353	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		9	82	9	82	---	---	---	---
AARS	16	broad.mit.edu	37	16	70302256	70302256	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:70302256C>A	ENST00000261772.8	-	8	1132	c.989G>T	c.(988-990)cGa>cTa	p.R330L		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.R330L(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TCGGACAGCTCGGCGGAGAAT	0.507																																						uc002eyn.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(988-990)CGA>CTA		alanyl-tRNA synthetase	L-Alanine(DB00160)						101.0	89.0	93.0					16																	70302256		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70302256C>A	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.989G>T	16.37:g.70302256C>A	ENSP00000261772:p.Arg330Leu					AARS_uc010vlu.1_Missense_Mutation_p.R160L	p.R330L	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	8	1099	-		Ovarian(137;0.0365)	330						Missense_Mutation	SNP	ENST00000261772.8	37	c.989G>T	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357313	0.95854	.	.	ENSG00000090861	ENST00000261772	T	0.71817	-0.6	5.66	5.66	0.87406	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.160577	0.56097	D	0.000026	D	0.91560	0.7334	H	0.99573	4.635	0.80722	D	1	P;D	0.89917	0.908;1.0	P;D	0.97110	0.894;1.0	D	0.94934	0.8085	10	0.87932	D	0	-5.2158	17.294	0.87164	0.0:1.0:0.0:0.0	.	338;330	E7ETK8;P49588	.;SYAC_HUMAN	L	330	ENSP00000261772:R330L	ENSP00000261772:R330L	R	-	2	0	AARS	68859757	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	7.818000	0.86416	2.673000	0.90976	0.650000	0.86243	CGA		PASS	0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		4	40	4	40	---	---	---	---
ZFP1	162239	broad.mit.edu	37	16	75203869	75203869	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr16:75203869G>C	ENST00000393430.2	+	4	985	c.861G>C	c.(859-861)caG>caC	p.Q287H	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.Q287H|ZFP1_ENST00000332307.4_Missense_Mutation_p.Q254H|ZFP1_ENST00000464850.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q287H(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						CCACACACCAGAGAATTCATA	0.433																																					NSCLC(187;1429 2122 10143 20357 42217)	uc002fdo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(859-861)CAG>CAC		zinc finger protein 1 homolog							69.0	70.0	70.0					16																	75203869		2198	4300	6498	SO:0001583	missense	162239				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75203869G>C	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.861G>C	16.37:g.75203869G>C	ENSP00000377080:p.Gln287His					ZFP1_uc002fdp.2_Missense_Mutation_p.Q232H|ZFP1_uc010cgt.2_Missense_Mutation_p.Q254H|ZFP1_uc010cgs.2_Missense_Mutation_p.Q232H|ZFP1_uc002fdq.2_Missense_Mutation_p.Q287H	p.Q287H	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN			4	1025	+			287			C2H2-type 4.		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	c.861G>C	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950197	0.53186	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.07567	3.18	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.11750	0.0286	L	0.50847	1.595	0.80722	D	1	P	0.48589	0.912	P	0.44597	0.454	T	0.00525	-1.1689	10	0.62326	D	0.03	-26.7008	13.3257	0.60459	0.0:0.0:1.0:0.0	.	287	Q6P2D0	ZFP1_HUMAN	H	287	ENSP00000377080:Q287H	ENSP00000333192:Q287H	Q	+	3	2	ZFP1	73761370	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	1.311000	0.33562	2.861000	0.98227	0.655000	0.94253	CAG		PASS	0.433	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		5	30	5	30	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1582704	1582704	+	Splice_Site	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:1582704C>G	ENST00000572621.1	-	9	1555	c.1290G>C	c.(1288-1290)tgG>tgC	p.W430C	PRPF8_ENST00000304992.6_Splice_Site_p.W430C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	430					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.W430C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTCCCGATACCTGGAAAAAT	0.502																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(1288-1290)TGG>TGC		U5 snRNP-specific protein							52.0	56.0	55.0					17																	1582704		2203	4300	6503	SO:0001630	splice_region_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582704C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1290-1G>C	17.37:g.1582704C>G							p.W430C	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	10	1404	-			430					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1290G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036432	0.75617	.	.	ENSG00000174231	ENST00000304992	D	0.83163	-1.69	5.96	5.96	0.96718	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.94085	0.8104	H	0.95151	3.63	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.94492	0.7702	10	0.56958	D	0.05	.	20.4084	0.99013	0.0:1.0:0.0:0.0	.	430	Q6P2Q9	PRP8_HUMAN	C	430	ENSP00000304350:W430C	ENSP00000304350:W430C	W	-	3	0	PRPF8	1529454	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.792000	0.85828	2.833000	0.97629	0.650000	0.86243	TGG		PASS	0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		Missense_Mutation	18	56	18	56	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1584337	1584337	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:1584337C>A	ENST00000572621.1	-	6	1143	c.878G>T	c.(877-879)tGg>tTg	p.W293L	PRPF8_ENST00000304992.6_Missense_Mutation_p.W293L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	293					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.W293L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAATTCATTCCAGTCTTCATC	0.398																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(877-879)TGG>TTG		U5 snRNP-specific protein							106.0	98.0	101.0					17																	1584337		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1584337C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.878G>T	17.37:g.1584337C>A	ENSP00000460348:p.Trp293Leu						p.W293L	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	7	992	-			293					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.878G>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259621	0.80246	.	.	ENSG00000174231	ENST00000304992	D	0.82526	-1.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92846	0.6293	10	0.72032	D	0.01	.	14.2091	0.65753	0.0:0.9256:0.0:0.0744	.	293	Q6P2Q9	PRP8_HUMAN	L	293	ENSP00000304350:W293L	ENSP00000304350:W293L	W	-	2	0	PRPF8	1531087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.657000	0.83745	2.453000	0.82957	0.650000	0.86243	TGG		PASS	0.398	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	114	8	114	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2203024	2203024	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:2203024G>T	ENST00000263073.6	-	2	1073	c.1023C>A	c.(1021-1023)aaC>aaA	p.N341K	SMG6_ENST00000544865.1_Missense_Mutation_p.N310K	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	341	Interaction with telomeric DNA.		N -> T (in dbSNP:rs1885987). {ECO:0000269|PubMed:12676087, ECO:0000269|PubMed:9872452}.		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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.T341T(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTTAGCACTGTTTTTCTGCT	0.473																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1021-1023)AAC>AAA		Smg-6 homolog, nonsense mediated mRNA decay							132.0	114.0	120.0					17																	2203024		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203024G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1023C>A	17.37:g.2203024G>T	ENSP00000263073:p.Asn341Lys					SMG6_uc002fud.1_Missense_Mutation_p.N310K	p.N341K	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1078	-			341			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1023C>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586453	0.28268	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.06849	3.25;3.26	5.35	3.34	0.38264	.	0.902977	0.09887	N	0.742929	T	0.05502	0.0145	N	0.08118	0	0.23487	N	0.997574	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	10	0.49607	T	0.09	-2.6793	11.1654	0.48539	0.152:0.0:0.848:0.0	.	341	Q86US8	EST1A_HUMAN	K	341;310	ENSP00000263073:N341K;ENSP00000443920:N310K	ENSP00000263073:N341K	N	-	3	2	SMG6	2149774	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.819000	0.39022	1.246000	0.43901	0.655000	0.94253	AAC		PASS	0.473	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			6	85	6	85	---	---	---	---
SPATA22	84690	broad.mit.edu	37	17	3352120	3352120	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:3352120G>A	ENST00000573128.1	-	6	1136	c.653C>T	c.(652-654)cCa>cTa	p.P218L	SPATA22_ENST00000572969.1_Missense_Mutation_p.P218L|SPATA22_ENST00000541913.1_Missense_Mutation_p.P202L|SPATA22_ENST00000397168.3_Missense_Mutation_p.P218L|SPATA22_ENST00000355380.4_Missense_Mutation_p.P175L|SPATA22_ENST00000575375.1_Missense_Mutation_p.P218L|SPATA22_ENST00000268981.5_Missense_Mutation_p.P218L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	218					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.P218L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GTTGTCTTCTGGAATATCATC	0.308																																						uc002fvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)CCA>CTA		spermatogenesis associated 22							68.0	70.0	69.0					17																	3352120		2203	4299	6502	SO:0001583	missense	84690							g.chr17:3352120G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.653C>T	17.37:g.3352120G>A	ENSP00000459580:p.Pro218Leu					SPATA22_uc010vrg.1_Missense_Mutation_p.P202L|SPATA22_uc010vrf.1_Missense_Mutation_p.P218L|SPATA22_uc002fvn.2_Missense_Mutation_p.P218L|SPATA22_uc002fvo.2_Missense_Mutation_p.P218L|SPATA22_uc002fvp.2_Missense_Mutation_p.P218L|SPATA22_uc010ckf.2_Missense_Mutation_p.P175L	p.P218L	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN			6	890	-			218					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.653C>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590963	0.28357	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.20881	2.13;2.16;2.04;2.15	4.82	2.66	0.31614	.	0.379952	0.20865	N	0.084274	T	0.17280	0.0415	L	0.27053	0.805	0.39524	D	0.968559	P;P;B;P	0.46142	0.728;0.873;0.288;0.728	B;P;B;B	0.44990	0.22;0.466;0.147;0.22	T	0.05305	-1.0893	10	0.87932	D	0	-15.7747	9.4883	0.38944	0.0:0.1535:0.6882:0.1583	.	202;218;175;218	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	L	175;218;218;202	ENSP00000347541:P175L;ENSP00000380354:P218L;ENSP00000268981:P218L;ENSP00000441920:P202L	ENSP00000268981:P218L	P	-	2	0	SPATA22	3298870	0.999000	0.42202	0.958000	0.39756	0.329000	0.28539	2.320000	0.43797	1.144000	0.42321	0.561000	0.74099	CCA		PASS	0.308	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		30	66	30	66	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3716427	3716427	+	Missense_Mutation	SNP	G	G	T	rs543024533		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:3716427G>T	ENST00000389005.4	-	13	1801	c.1774C>A	c.(1774-1776)Cgc>Agc	p.R592S	C17orf85_ENST00000158149.3_Missense_Mutation_p.R312S	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	592							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R312S(1)|p.R592S(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTCTTTTGGCGAGACTGCTCT	0.537																																						uc010ckl.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1774-1776)CGC>AGC		ELG protein isoform a							127.0	128.0	128.0					17																	3716427		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3716427G>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1774C>A	17.37:g.3716427G>T	ENSP00000373657:p.Arg592Ser					C17orf85_uc002fwr.2_Missense_Mutation_p.R302S|C17orf85_uc002fwq.2_Missense_Mutation_p.R312S	p.R592S	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	13	1797	-			592					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.1774C>A	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661346	0.47572	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.85	5.85	0.93711	.	0.097959	0.64402	D	0.000001	T	0.46756	0.1409	N	0.19112	0.55	0.50171	D	0.999855	B	0.27013	0.166	B	0.24701	0.055	T	0.44360	-0.9333	9	0.72032	D	0.01	-6.5139	18.0364	0.89305	0.0:0.0:1.0:0.0	.	592	Q53F19	CQ085_HUMAN	S	592;312	.	ENSP00000158149:R312S	R	-	1	0	C17orf85	3663176	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.750000	0.68712	2.941000	0.99782	0.655000	0.94253	CGC		PASS	0.537	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		6	90	6	90	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3916904	3916904	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:3916904G>T	ENST00000381638.2	-	52	8542	c.8418C>A	c.(8416-8418)ttC>ttA	p.F2806L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2806							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.F2806L(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAAAATCTCGAATCCTGGCC	0.403																																						uc002fxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(8416-8418)TTC>TTA		zinc finger, ZZ type with EF hand domain 1							93.0	96.0	95.0					17																	3916904		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3916904G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8418C>A	17.37:g.3916904G>T	ENSP00000371051:p.Phe2806Leu					ZZEF1_uc002fxg.1_Missense_Mutation_p.F127L	p.F2806L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			52	8482	-			2806					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8418C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506866	0.85282	.	.	ENSG00000074755	ENST00000381638	T	0.31510	1.49	5.92	-9.01	0.00744	.	0.110538	0.64402	D	0.000007	T	0.29093	0.0723	L	0.29908	0.895	0.51767	D	0.999936	D	0.58970	0.984	P	0.51582	0.674	T	0.56583	-0.7955	10	0.72032	D	0.01	-11.7408	21.5691	0.99956	0.894:0.0:0.106:0.0	.	2806	O43149	ZZEF1_HUMAN	L	2806	ENSP00000371051:F2806L	ENSP00000371051:F2806L	F	-	3	2	ZZEF1	3863653	0.948000	0.32251	0.233000	0.24025	0.984000	0.73092	0.190000	0.17057	-1.797000	0.01252	-0.136000	0.14681	TTC		PASS	0.403	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		7	188	7	188	---	---	---	---
CHRNE	1145	broad.mit.edu	37	17	4798448	4798448	+	IGR	SNP	C	C	A	rs551891002		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:4798448C>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.P979H|MINK1_ENST00000355280.6_Missense_Mutation_p.P999H|MINK1_ENST00000347992.7_Missense_Mutation_p.P970H	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.P999H(1)|p.P970H(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	AACGTGAATCCCACCAACACC	0.602																																						uc010vsl.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(2995-2997)CCC>CAC		misshapen-like kinase 1 isoform 3							566.0	527.0	540.0					17																	4798448		2036	4191	6227	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798448C>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798448C>A						MINK1_uc010vsk.1_Missense_Mutation_p.P970H|MINK1_uc010vsm.1_Missense_Mutation_p.P979H|MINK1_uc010vsn.1_Missense_Mutation_p.P962H|MINK1_uc010vso.1_Missense_Mutation_p.P907H|MINK1_uc010vsp.1_Missense_Mutation_p.P460H	p.P999H	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			25	3192	+			999			Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.2996C>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626911	0.87560	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	D;D;D	0.83673	-1.75;-1.74;-1.71	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.997	D	0.92381	0.5913	10	0.87932	D	0	.	16.4886	0.84191	0.0:1.0:0.0:0.0	.	962;979;999;970	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	H	999;979;970	ENSP00000347427:P999H;ENSP00000406487:P979H;ENSP00000269296:P970H	ENSP00000269296:P970H	P	+	2	0	MINK1	4739224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.757000	0.94681	0.655000	0.94253	CCC		PASS	0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			9	258	9	258	---	---	---	---
ENO3	2027	broad.mit.edu	37	17	4858862	4858862	+	Silent	SNP	C	C	A	rs35119507	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:4858862C>A	ENST00000323997.6	+	8	960	c.828C>A	c.(826-828)ctC>ctA	p.L276L	ENO3_ENST00000519584.1_Silent_p.L233L|ENO3_ENST00000518175.1_Silent_p.L276L	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	276					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.L276L(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGAGAAGCTCGGAGAGCTGT	0.522																																						uc002gab.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(826-828)CTC>CTA		enolase 3							192.0	191.0	192.0					17																	4858862		2203	4300	6503	SO:0001819	synonymous_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858862C>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.828C>A	17.37:g.4858862C>A						ENO3_uc010vsr.1_Silent_p.L183L|ENO3_uc002gac.3_Silent_p.L276L|ENO3_uc010vss.1_Silent_p.L233L|ENO3_uc010vst.1_Silent_p.L112L	p.L276L	NM_053013	NP_443739	P13929	ENOB_HUMAN			8	922	+			276					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	c.828C>A	CCDS11062.1																																																																																				PASS	0.522	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			6	140	6	140	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5085768	5085768	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:5085768G>T	ENST00000399604.4	-	1	1924	c.1784C>A	c.(1783-1785)cCa>cAa	p.P595Q	ZNF594_ENST00000575779.1_Missense_Mutation_p.P595Q			Q96JF6	ZN594_HUMAN	zinc finger protein 594	595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P595Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCATTCATATGGTTTCTCTCT	0.423																																						uc010cla.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1783-1785)CCA>CAA		zinc finger protein 594							159.0	160.0	160.0					17																	5085768		2031	4210	6241	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085768G>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1784C>A	17.37:g.5085768G>T	ENSP00000382513:p.Pro595Gln						p.P595Q	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1940	-			595					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1784C>A	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	13.90	2.374646	0.42105	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.17213	2.29	0.972	0.972	0.19704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43678	0.1258	M	0.90309	3.105	0.26503	N	0.974736	D	0.62365	0.991	D	0.75020	0.985	T	0.17806	-1.0357	9	0.87932	D	0	.	7.397	0.26942	0.0:0.0:1.0:0.0	.	595	Q96JF6	ZN594_HUMAN	Q	595;190	ENSP00000382513:P595Q	ENSP00000373874:P190Q	P	-	2	0	ZNF594	5026492	0.999000	0.42202	0.001000	0.08648	0.065000	0.16274	3.167000	0.50793	0.443000	0.26582	0.184000	0.17185	CCA		PASS	0.423	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		8	174	8	174	---	---	---	---
SLC2A4	6517	broad.mit.edu	37	17	7187914	7187914	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:7187914G>A	ENST00000317370.8	+	7	1106	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	SLC2A4_ENST00000424875.2_Missense_Mutation_p.G270S|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.G280S	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	280					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.G280S(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCAGCTCCTGGGCAGCCGTAC	0.632																																						uc002gfp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)GGC>AGC		glucose transporter 4							36.0	41.0	39.0					17																	7187914		2202	4300	6502	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187914G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.838G>A	17.37:g.7187914G>A	ENSP00000320935:p.Gly280Ser					SLC2A4_uc002gfo.2_Missense_Mutation_p.G280S|SLC2A4_uc010cmd.2_RNA	p.G280S	NM_001042	NP_001033	P14672	GTR4_HUMAN			7	1038	+			280			Cytoplasmic (Potential).		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.838G>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302854	0.40795	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.80033	0.39;-1.33	4.82	2.71	0.32032	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.141983	0.45606	D	0.000341	T	0.55305	0.1912	N	0.03891	-0.335	0.40021	D	0.975419	B;B	0.10296	0.0;0.003	B;B	0.01281	0.0;0.0	T	0.49781	-0.8903	10	0.33940	T	0.23	.	6.5629	0.22495	0.104:0.2838:0.6122:0.0	.	280;270	P14672;F5H081	GTR4_HUMAN;.	S	280;270	ENSP00000320935:G280S;ENSP00000396887:G270S	ENSP00000320935:G280S	G	+	1	0	SLC2A4	7128638	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.885000	0.39678	1.258000	0.44101	0.655000	0.94253	GGC		PASS	0.632	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			12	18	12	18	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7221432	7221432	+	Nonsense_Mutation	SNP	C	C	A	rs201462316		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:7221432C>A	ENST00000399464.2	-	25	4027	c.4012G>T	c.(4012-4014)Gag>Tag	p.E1338*	GPS2_ENST00000391950.3_5'Flank|RP11-542C16.2_ENST00000575474.1_Silent_p.A151A|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1336*|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1314*|GPS2_ENST00000389167.5_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1338						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1338*(1)|p.E1336*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATGGTACTCGCAGCTCTTT	0.592																																						uc002gga.1																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4012-4014)GAG>TAG		neuralized homolog 4 isoform 1							101.0	112.0	108.0					17																	7221432		2058	4201	6259	SO:0001587	stop_gained	84461						protein binding	g.chr17:7221432C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4012G>T	17.37:g.7221432C>A	ENSP00000382390:p.Glu1338*					GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Nonsense_Mutation_p.E1336*	p.E1338*	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			25	4019	-			1338					Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	c.4012G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	42	9.806426	0.99268	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	5.03	5.03	0.67393	.	0.138683	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-27.0847	17.2912	0.87157	0.0:1.0:0.0:0.0	.	.	.	.	X	1336;1338	.	ENSP00000319826:E1336X	E	-	1	0	NEURL4	7162156	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.335000	0.72949	2.620000	0.88729	0.305000	0.20034	GAG		PASS	0.592	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		5	74	5	74	---	---	---	---
MPDU1	9526	broad.mit.edu	37	17	7487219	7487219	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:7487219C>A	ENST00000250124.6	+	1	255	c.39C>A	c.(37-39)ctC>ctA	p.L13L	MPDU1_ENST00000396501.4_Silent_p.L13L|MPDU1_ENST00000582151.1_Silent_p.L13L|MPDU1_ENST00000423172.2_Silent_p.L13L|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	13					dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|oligosaccharide biosynthetic process (GO:0009312)|protein folding (GO:0006457)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.L13L(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AACGGCTGCTCGTGCCGATTC	0.542																																						uc002ghw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(37-39)CTC>CTA		mannose-P-dolichol utilization defect 1							137.0	143.0	141.0					17																	7487219		2203	4300	6503	SO:0001819	synonymous_variant	9526				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding	g.chr17:7487219C>A	AF038961	CCDS11115.1	17p13.1-p12	2008-07-03			ENSG00000129255	ENSG00000129255			7207	protein-coding gene	gene with protein product		604041				8663248, 9653160, 11733564	Standard	NM_004870		Approved	SL15, Lec35, PQLC5, CDGIf	uc002ghw.3	O75352	OTTHUMG00000108147	ENST00000250124.6:c.39C>A	17.37:g.7487219C>A						MPDU1_uc010vub.1_5'UTR|MPDU1_uc002ghx.2_Silent_p.L13L|MPDU1_uc010vuc.1_Silent_p.L13L	p.L13L	NM_004870	NP_004861	O75352	MPU1_HUMAN			1	255	+			13					B3KQP1|B4DT74|Q9BUU8	Silent	SNP	ENST00000250124.6	37	c.39C>A	CCDS11115.1																																																																																				PASS	0.542	MPDU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226950.4			7	147	7	147	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	rs371409680		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	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	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)	TTCCTCTGTGCGCCGGTCTCT	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		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(23)|p.R283C(18)|p.R283H(12)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R283G(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(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	CM021154	TP53	M		c.(847-849)CGC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							86.0	73.0	78.0					17																	7577090		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.chr17:7577090C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R283P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R151P|TP53_uc010cng.1_Missense_Mutation_p.R151P|TP53_uc002gii.1_Missense_Mutation_p.R151P|TP53_uc010cnh.1_Missense_Mutation_p.R283P|TP53_uc010cni.1_Missense_Mutation_p.R283P|TP53_uc002gij.2_Missense_Mutation_p.R283P	p.R283P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1042	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	10	10	10	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10399845	10399845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:10399845C>A	ENST00000226207.5	-	34	4772	c.4678G>T	c.(4678-4680)Gga>Tga	p.G1560*	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	1560					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.G1560*(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						AGGATCTTTCCCTCTTCATGT	0.383																																						uc002gmo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4678-4680)GGA>TGA		myosin, heavy chain 1, skeletal muscle, adult							88.0	88.0	88.0					17																	10399845		2203	4297	6500	SO:0001587	stop_gained	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399845C>A		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.4678G>T	17.37:g.10399845C>A	ENSP00000226207:p.Gly1560*					uc002gml.1_Intron	p.G1560*	NM_005963	NP_005954	P12882	MYH1_HUMAN			34	4772	-			1560			Potential.		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	c.4678G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	43	9.984604	0.99310	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.52	5.52	0.82312	.	0.000000	0.42682	U	0.000672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7889	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	X	1560	.	ENSP00000226207:G1560X	G	-	1	0	MYH1	10340570	0.006000	0.16342	1.000000	0.80357	0.998000	0.95712	1.834000	0.39171	2.734000	0.93682	0.655000	0.94253	GGA		PASS	0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		52	77	52	77	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10429093	10429093	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:10429093C>G	ENST00000245503.5	-	31	4672	c.4288G>C	c.(4288-4290)Gag>Cag	p.E1430Q	MYH2_ENST00000397183.2_Missense_Mutation_p.E1430Q|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|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	1430					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.E1430Q(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						TCCTCGACCTCATTCTGCAGC	0.537																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4288-4290)GAG>CAG		myosin heavy chain IIa							80.0	75.0	77.0					17																	10429093		2203	4300	6503	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.chr17:10429093C>G		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.4288G>C	17.37:g.10429093C>G	ENSP00000245503:p.Glu1430Gln					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1430Q|MYH2_uc010coj.2_Intron	p.E1430Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			31	4416	-			1430			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4288G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818980	0.90873	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85556	-2.0;-2.0	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.39475	U	0.001342	D	0.95749	0.8617	H	0.98507	4.25	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.97566	1.0101	10	0.87932	D	0	.	18.2698	0.90064	0.0:1.0:0.0:0.0	.	1430	Q9UKX2	MYH2_HUMAN	Q	1430	ENSP00000245503:E1430Q;ENSP00000380367:E1430Q	ENSP00000245503:E1430Q	E	-	1	0	MYH2	10369818	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.651000	0.83577	2.558000	0.86282	0.313000	0.20887	GAG		PASS	0.537	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	71	6	71	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11835352	11835352	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:11835352C>A	ENST00000262442.4	+	64	12195	c.12127C>A	c.(12127-12129)Cgg>Agg	p.R4043R	DNAH9_ENST00000608377.1_Silent_p.R355R|DNAH9_ENST00000454412.2_Silent_p.R3967R|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4043	AAA 6. {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.R4043R(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)		GATGTGTTCTCGGGAGACGGA	0.493																																						uc002gne.2																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12127-12129)CGG>AGG		dynein, axonemal, heavy chain 9 isoform 2							338.0	316.0	323.0					17																	11835352		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.chr17:11835352C>A	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.12127C>A	17.37:g.11835352C>A						DNAH9_uc010coo.2_Silent_p.R3261R|DNAH9_uc002gnf.2_Silent_p.R355R	p.R4043R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12195	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4043			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.12127C>A	CCDS11160.1																																																																																				PASS	0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	223	7	223	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656052	12656052	+	Missense_Mutation	SNP	G	G	T	rs28730823	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:12656052G>T	ENST00000343344.4	+	10	1447	c.1447G>T	c.(1447-1449)Ggc>Tgc	p.G483C	MYOCD_ENST00000425538.1_Missense_Mutation_p.G483C|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.G387C			Q8IZQ8	MYCD_HUMAN	myocardin	483	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G483C(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCTCCTTCGGCCTGCACCC	0.642																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1447-1449)GGC>TGC		myocardin isoform 2							57.0	55.0	56.0					17																	12656052		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656052G>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1447G>T	17.37:g.12656052G>T	ENSP00000341835:p.Gly483Cys					MYOCD_uc002gno.2_Missense_Mutation_p.G483C|MYOCD_uc002gnp.1_Missense_Mutation_p.G387C|MYOCD_uc002gnq.2_Missense_Mutation_p.G202C	p.G483C	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1746	+			483			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1447G>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869859	0.17322	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.48522	0.84;0.81	5.45	0.953	0.19590	.	0.337536	0.34652	N	0.003792	T	0.25975	0.0633	N	0.14661	0.345	0.45867	D	0.998728	B;B;B;B	0.26775	0.028;0.159;0.096;0.058	B;B;B;B	0.28638	0.011;0.092;0.082;0.037	T	0.03306	-1.1050	10	0.38643	T	0.18	-4.7113	6.2495	0.20837	0.1325:0.0:0.5878:0.2796	.	202;387;483;483	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	C	202;483;483;387;188	ENSP00000341835:G483C;ENSP00000400148:G188C	ENSP00000341835:G483C	G	+	1	0	MYOCD	12596777	0.840000	0.29493	0.411000	0.26484	0.222000	0.24845	2.023000	0.41040	0.259000	0.21709	0.591000	0.81541	GGC		PASS	0.642	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		10	12	10	12	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16029511	16029511	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:16029511G>T	ENST00000268712.3	-	15	1776	c.1519C>A	c.(1519-1521)Cga>Aga	p.R507R	NCOR1_ENST00000395848.1_Silent_p.R398R|NCOR1_ENST00000395851.1_Silent_p.R507R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	507					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R507R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		tGCGAGGGTCGAGCAATTTGC	0.303																																						uc002gpo.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1519-1521)CGA>AGA		nuclear receptor co-repressor 1							42.0	43.0	43.0					17																	16029511		2200	4293	6493	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16029511G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1519C>A	17.37:g.16029511G>T						NCOR1_uc002gpn.2_Silent_p.R507R|NCOR1_uc002gpp.1_Silent_p.R398R|NCOR1_uc002gpr.2_Silent_p.R398R|NCOR1_uc002gps.1_Silent_p.R516R|NCOR1_uc010coz.1_Silent_p.R323R|NCOR1_uc010cpb.1_Silent_p.R517R|NCOR1_uc010cpa.1_Silent_p.R508R	p.R507R	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	15	1759	-			507			Potential.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.1519C>A	CCDS11175.1																																																																																				PASS	0.303	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	105	5	105	---	---	---	---
TMEM97	27346	broad.mit.edu	37	17	26652619	26652619	+	Nonsense_Mutation	SNP	G	G	T	rs573101328		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:26652619G>T	ENST00000226230.6	+	2	362	c.217G>T	c.(217-219)Gag>Tag	p.E73*	TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000582113.1_Nonsense_Mutation_p.E73*|TMEM97_ENST00000336687.6_5'UTR	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	73					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.E73*(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTGTTTTGCGAGCTTGTGTT	0.448																																						uc002hat.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(217-219)GAG>TAG		transmembrane protein 97							150.0	146.0	147.0					17																	26652619		1916	4141	6057	SO:0001587	stop_gained	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26652619G>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.217G>T	17.37:g.26652619G>T	ENSP00000226230:p.Glu73*						p.E73*	NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	362	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		73			Helical; (Potential).		B4DS02|Q07823	Nonsense_Mutation	SNP	ENST00000226230.6	37	c.217G>T	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993109	0.74703	.	.	ENSG00000109084	ENST00000226230	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6639	18.8764	0.92338	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000226230:E73X	E	+	1	0	TMEM97	23676746	1.000000	0.71417	0.984000	0.44739	0.334000	0.28698	9.245000	0.95431	2.802000	0.96397	0.655000	0.94253	GAG		PASS	0.448	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		6	96	6	96	---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26906801	26906801	+	Missense_Mutation	SNP	C	C	A	rs546549488		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:26906801C>A	ENST00000321765.5	-	17	3184	c.2852G>T	c.(2851-2853)cGa>cTa	p.R951L	ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	951					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.R951L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGATGCTACTCGGGTGAAAGC	0.502																																						uc002hbq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2851-2853)CGA>CTA		sperm associated antigen 5							148.0	152.0	151.0					17																	26906801		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906801C>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2852G>T	17.37:g.26906801C>A	ENSP00000323300:p.Arg951Leu					ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	p.R951L	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			17	2944	-	Lung NSC(42;0.00431)		951					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2852G>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.595015	0.66219	.	.	ENSG00000076382	ENST00000321765	T	0.33438	1.41	5.4	4.41	0.53225	.	0.148155	0.30365	N	0.009799	T	0.38532	0.1044	L	0.34521	1.04	0.34007	D	0.651045	D	0.69078	0.997	D	0.65140	0.932	T	0.43782	-0.9370	10	0.46703	T	0.11	-7.7226	10.1832	0.42982	0.0:0.9085:0.0:0.0915	.	951	Q96R06	SPAG5_HUMAN	L	951	ENSP00000323300:R951L	ENSP00000323300:R951L	R	-	2	0	SPAG5	23930928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.368000	0.34216	2.817000	0.96982	0.645000	0.84053	CGA		PASS	0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		7	101	7	101	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27233933	27233933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:27233933G>T	ENST00000332830.4	-	14	3431	c.2621C>A	c.(2620-2622)tCg>tAg	p.S874*	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.S874*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGTCTTCTCCGAGAAGTCACA	0.507																																						uc002hdg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2620-2622)TCG>TAG		PHD finger protein 12 isoform 1							152.0	144.0	146.0					17																	27233933		2203	4300	6503	SO:0001587	stop_gained	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233933G>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2621C>A	17.37:g.27233933G>T	ENSP00000329933:p.Ser874*					PHF12_uc010wbb.1_Nonsense_Mutation_p.S856*	p.S874*	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		14	3151	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		874						Nonsense_Mutation	SNP	ENST00000332830.4	37	c.2621C>A	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	45	11.908852	0.99616	.	.	ENSG00000109118	ENST00000332830	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9075	17.3024	0.87186	0.0:0.0:1.0:0.0	.	.	.	.	X	874	.	ENSP00000329933:S874X	S	-	2	0	PHF12	24258059	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.753000	0.91637	2.653000	0.90120	0.563000	0.77884	TCG		PASS	0.507	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		5	87	5	87	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27829707	27829707	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:27829707G>T	ENST00000261716.3	+	13	1823	c.1304G>T	c.(1303-1305)cGa>cTa	p.R435L	TAOK1_ENST00000536202.1_Missense_Mutation_p.R435L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	435					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R435L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TATCGTAATCGAGAACACTTT	0.398																																						uc002hdz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1303-1305)CGA>CTA		TAO kinase 1							187.0	152.0	164.0					17																	27829707		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27829707G>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1304G>T	17.37:g.27829707G>T	ENSP00000261716:p.Arg435Leu					TAOK1_uc010wbe.1_Missense_Mutation_p.R435L|TAOK1_uc010wbf.1_Missense_Mutation_p.R435L|TAOK1_uc002heb.1_Missense_Mutation_p.R261L	p.R435L	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		13	1498	+			435					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1304G>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017225	0.97205	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.52295	0.67;0.67	5.92	5.92	0.95590	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.82630	2.6	0.80722	D	1	P;D;D	0.89917	0.956;0.974;1.0	P;P;D	0.87578	0.509;0.889;0.998	T	0.76083	-0.3089	10	0.87932	D	0	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	435;261;435	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	L	435	ENSP00000261716:R435L;ENSP00000438819:R435L	ENSP00000261716:R435L	R	+	2	0	TAOK1	24853833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.133000	0.94460	2.795000	0.96236	0.655000	0.94253	CGA		PASS	0.398	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		6	71	6	71	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28749923	28749923	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:28749923G>T	ENST00000225719.4	+	5	1615	c.1539G>T	c.(1537-1539)ttG>ttT	p.L513F	CPD_ENST00000543464.2_Missense_Mutation_p.L266F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	513	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.L513F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AAATCTTCTTGAGAAGGTTTG	0.393																																						uc002hfb.1																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(1537-1539)TTG>TTT		carboxypeptidase D precursor							152.0	148.0	149.0					17																	28749923		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28749923G>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1539G>T	17.37:g.28749923G>T	ENSP00000225719:p.Leu513Phe					CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA	p.L513F	NM_001304	NP_001295	O75976	CBPD_HUMAN			5	1554	+			513			Extracellular (Potential).|Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1539G>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878114	0.91664	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.16743	2.32;2.32	5.77	5.77	0.91146	Peptidase M14, carboxypeptidase A (2);	0.065336	0.64402	D	0.000006	T	0.43055	0.1230	M	0.68728	2.09	0.80722	D	1	D;D	0.76494	0.999;0.98	D;P	0.75020	0.985;0.905	T	0.19224	-1.0312	10	0.87932	D	0	.	18.9713	0.92716	0.0:0.0:1.0:0.0	.	266;513	F5GZH6;O75976	.;CBPD_HUMAN	F	513;266	ENSP00000225719:L513F;ENSP00000444443:L266F	ENSP00000225719:L513F	L	+	3	2	CPD	25774049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.348000	0.59379	2.728000	0.93425	0.650000	0.86243	TTG		PASS	0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		7	102	7	102	---	---	---	---
PSMD11	5717	broad.mit.edu	37	17	30791091	30791091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:30791091G>T	ENST00000261712.3	+	4	606	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	PSMD11_ENST00000457654.2_Nonsense_Mutation_p.E115*|Y_RNA_ENST00000365230.1_RNA	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.E115*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGAGTGCATCGAATGGGCCAA	0.438																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(343-345)GAA>TAA		proteasome 26S non-ATPase subunit 11							248.0	222.0	231.0					17																	30791091		2203	4300	6503	SO:0001587	stop_gained	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30791091G>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.343G>T	17.37:g.30791091G>T	ENSP00000261712:p.Glu115*					PSMD11_uc010wbz.1_Nonsense_Mutation_p.E115*|PSMD11_uc002hhm.2_Nonsense_Mutation_p.E115*	p.E115*	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		4	383	+		Breast(31;0.159)|Ovarian(249;0.182)	115					A8K3I7|E1P663|O00495|Q53FT5	Nonsense_Mutation	SNP	ENST00000261712.3	37	c.343G>T	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763835	0.96906	.	.	ENSG00000108671	ENST00000261712	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	4.3351	17.2431	0.87019	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000261712:E115X	E	+	1	0	PSMD11	27815204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.204000	0.95041	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.438	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		6	88	6	88	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33319587	33319587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:33319587C>A	ENST00000378526.4	+	8	1464	c.1331C>A	c.(1330-1332)tCg>tAg	p.S444*	LIG3_ENST00000262327.5_Nonsense_Mutation_p.S444*	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	444					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.S444*(1)|p.S357*(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCAAAGCCTCGCGCAACCTG	0.587								Other BER factors																														uc002hik.1																			2	Substitution - Nonsense(2)		lung(2)	skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(1330-1332)TCG>TAG	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						118.0	108.0	112.0					17																	33319587		2203	4300	6503	SO:0001587	stop_gained	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33319587C>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1331C>A	17.37:g.33319587C>A	ENSP00000367787:p.Ser444*					LIG3_uc002hij.2_Nonsense_Mutation_p.S444*|LIG3_uc010cth.1_Nonsense_Mutation_p.S453*	p.S444*	NM_013975	NP_039269	P49916	DNLI3_HUMAN			8	1439	+		Ovarian(249;0.17)	444					Q16714|Q6NVK3	Nonsense_Mutation	SNP	ENST00000378526.4	37	c.1331C>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	39	7.816814	0.98507	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	.	.	.	5.4	5.4	0.78164	.	0.124112	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2194	18.3525	0.90343	0.0:1.0:0.0:0.0	.	.	.	.	X	444	.	ENSP00000262327:S444X	S	+	2	0	LIG3	30343700	1.000000	0.71417	0.459000	0.27081	0.988000	0.76386	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	TCG		PASS	0.587	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		5	71	5	71	---	---	---	---
PIGW	284098	broad.mit.edu	37	17	34893028	34893028	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:34893028G>T	ENST00000592983.1	+	2	658	c.78G>T	c.(76-78)ttG>ttT	p.L26F	PIGW_ENST00000328396.2_Missense_Mutation_p.L26F|MYO19_ENST00000431794.3_5'Flank|MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000586007.1_5'Flank|MYO19_ENST00000268852.9_5'Flank			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	26					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)	p.L26F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGGGATTGTGCTTTCCTG	0.433																																						uc002hmy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)TTG>TTT		phosphatidylinositol glycan, class W							205.0	183.0	190.0					17																	34893028		2203	4300	6503	SO:0001583	missense	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893028G>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.78G>T	17.37:g.34893028G>T	ENSP00000468778:p.Leu26Phe					MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.L26F	p.L26F	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	121	+		Breast(25;0.00957)|Ovarian(249;0.17)	26			Helical; (Potential).		Q8N9G3	Missense_Mutation	SNP	ENST00000592983.1	37	c.78G>T	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623534	0.46840	.	.	ENSG00000184886	ENST00000429467;ENST00000328396	.	.	.	5.93	2.87	0.33458	.	0.157589	0.44285	D	0.000465	T	0.54224	0.1845	L	0.58428	1.81	0.32048	N	0.597331	D	0.76494	0.999	D	0.66716	0.946	T	0.56601	-0.7952	9	0.08179	T	0.78	-4.9665	8.9094	0.35543	0.2854:0.0:0.7146:0.0	.	26	Q7Z7B1	PIGW_HUMAN	F	26	.	ENSP00000332313:L26F	L	+	3	2	PIGW	31967141	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.559000	0.23485	0.853000	0.35312	-0.140000	0.14226	TTG		PASS	0.433	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		6	78	6	78	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34934591	34934591	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:34934591C>A	ENST00000304718.4	+	7	1136	c.820C>A	c.(820-822)Cgt>Agt	p.R274S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	274					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.R274S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCTTTTGGGTCGTGCTGAGCC	0.438																																						uc002hnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(820-822)CGT>AGT		zinc finger protein 403							177.0	159.0	165.0					17																	34934591		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34934591C>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.820C>A	17.37:g.34934591C>A	ENSP00000307617:p.Arg274Ser					GGNBP2_uc002hna.2_Missense_Mutation_p.R274S|GGNBP2_uc002hnc.1_Missense_Mutation_p.R103S	p.R274S	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	7	1069	+		Breast(25;0.00957)|Ovarian(249;0.17)	274					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.820C>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189381	0.94923	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.74881	2.28	0.80722	D	1	P;P;D	0.56968	0.942;0.942;0.978	B;B;P	0.51415	0.444;0.444;0.669	T	0.77143	-0.2696	9	0.66056	D	0.02	-14.6467	19.4756	0.94987	0.0:1.0:0.0:0.0	.	274;274;274	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	S	274	.	ENSP00000307617:R274S	R	+	1	0	GGNBP2	32008704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.295000	0.59049	2.612000	0.88384	0.484000	0.47621	CGT		PASS	0.438	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		5	116	5	116	---	---	---	---
MRPL45	84311	broad.mit.edu	37	17	36462506	36462506	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:36462506G>A	ENST00000312513.5	+	4	530	c.369G>A	c.(367-369)cgG>cgA	p.R123R		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	123						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.R123R(1)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACAGAATCCGGAGGATAAAAG	0.358																																						uc002hpy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)CGG>CGA		mitochondrial ribosomal protein L45 precursor							18.0	23.0	21.0					17																	36462506		2135	4213	6348	SO:0001819	synonymous_variant	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36462506G>A	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.369G>A	17.37:g.36462506G>A							p.R123R	NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN			4	521	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	123					A1L436|Q6ZMJ5	Silent	SNP	ENST00000312513.5	37	c.369G>A	CCDS11326.1																																																																																				PASS	0.358	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		12	81	12	81	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36487046	36487046	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:36487046C>A	ENST00000342292.4	-	11	2426	c.2406G>T	c.(2404-2406)gaG>gaT	p.E802D	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	802					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E802D(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTCCCGGCTCTCTGTTCGAG	0.667																																						uc002hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2404-2406)GAG>GAT		GPR158-like 1 precursor							10.0	12.0	11.0					17																	36487046		1939	4112	6051	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487046C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2406G>T	17.37:g.36487046C>A	ENSP00000345060:p.Glu802Asp						p.E802D	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	2427	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	802			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.2406G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	3.889	-0.024389	0.07634	.	.	ENSG00000188888	ENST00000342292	T	0.52754	0.65	5.3	-2.09	0.07232	.	0.585642	0.16392	N	0.216440	T	0.23965	0.0580	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11348	-1.0591	10	0.29301	T	0.29	-5.6005	5.8649	0.18768	0.1124:0.1947:0.5439:0.1489	.	802	Q6PRD1	GP179_HUMAN	D	802	ENSP00000345060:E802D	ENSP00000345060:E802D	E	-	3	2	GPR179	33740572	0.000000	0.05858	0.405000	0.26409	0.043000	0.13939	-0.090000	0.11163	-0.135000	0.11495	-0.121000	0.15023	GAG		PASS	0.667	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	12	4	12	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37571341	37571341	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:37571341G>T	ENST00000394287.3	-	16	1642	c.1437C>A	c.(1435-1437)ctC>ctA	p.L479L	MED1_ENST00000300651.6_Silent_p.L479L			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.L479L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCCTTTGTAGAGTTTACAGC	0.408										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(1435-1437)CTC>CTA		mediator complex subunit 1							210.0	215.0	213.0					17																	37571341		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37571341G>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1437C>A	17.37:g.37571341G>T		HNSCC(31;0.082)				MED1_uc010wee.1_Silent_p.L307L|MED1_uc002hru.2_Silent_p.L479L	p.L479L	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	16	1649	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	479			Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37	c.1437C>A																																																																																					PASS	0.408	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		11	308	11	308	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38191412	38191412	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:38191412T>C	ENST00000394128.2	-	6	598	c.517A>G	c.(517-519)Aag>Gag	p.K173E	MED24_ENST00000356271.3_Missense_Mutation_p.K160E|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394127.2_Missense_Mutation_p.K160E|MED24_ENST00000501516.3_Missense_Mutation_p.K173E|MED24_ENST00000394126.1_Missense_Mutation_p.K198E	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	173					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K173E(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCCCGGTTCTTGGTGCTGCTG	0.642											OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002htt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(517-519)AAG>GAG		mediator complex subunit 24 isoform 1							88.0	97.0	94.0					17																	38191412		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38191412T>C	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.517A>G	17.37:g.38191412T>C	ENSP00000377686:p.Lys173Glu		OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	876	MED24_uc010wes.1_Missense_Mutation_p.K14E|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.K198E|MED24_uc002htu.2_Missense_Mutation_p.K160E|MED24_uc010cwn.2_Missense_Mutation_p.K160E|MED24_uc010weu.1_Missense_Mutation_p.K83E|MED24_uc010wev.1_Missense_Mutation_p.K123E|MED24_uc010wew.1_Missense_Mutation_p.K102E|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.K123E|MED24_uc010wfb.1_Missense_Mutation_p.K185E|MED24_uc010wfc.1_Missense_Mutation_p.K110E	p.K173E	NM_014815	NP_055630	O75448	MED24_HUMAN			6	830	-	Colorectal(19;0.000442)		173					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.517A>G	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456044	0.63401	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000535508;ENST00000431269;ENST00000428757	T;T;T	0.47869	0.83;0.83;0.83	6.06	6.06	0.98353	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.54323	1.7	0.80722	D	1	D;D;P;D;D;D;D;D	0.89917	1.0;1.0;0.906;0.998;0.998;0.998;0.999;0.998	D;D;P;D;D;D;D;D	0.87578	0.992;0.998;0.523;0.994;0.994;0.994;0.996;0.994	T	0.56318	-0.7999	10	0.02654	T	1	-30.612	16.6093	0.84858	0.0:0.0:0.0:1.0	.	128;160;123;123;83;160;173;96	B9TX63;B9TX65;B4DV99;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;.;MED24_HUMAN;.	E	173;173;173;123;160;96;147;147;83;173	ENSP00000377686:K173E;ENSP00000443344:K123E;ENSP00000377685:K160E	ENSP00000348610:K173E	K	-	1	0	MED24	35444938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.005000	0.88553	2.324000	0.78689	0.533000	0.62120	AAG		PASS	0.642	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		43	61	43	61	---	---	---	---
CCR7	1236	broad.mit.edu	37	17	38711930	38711930	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:38711930G>T	ENST00000246657.2	-	3	263	c.201C>A	c.(199-201)atC>atA	p.I67I	CCR7_ENST00000579344.1_Silent_p.I61I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	67					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.I67I(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGAAACAAATGATGGAGTACA	0.493																																						uc002huw.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(199-201)ATC>ATA		chemokine (C-C motif) receptor 7 precursor							116.0	105.0	109.0					17																	38711930		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711930G>T		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.201C>A	17.37:g.38711930G>T							p.I67I	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	264	-		Breast(137;0.000496)	67			Helical; Name=1; (Potential).			Silent	SNP	ENST00000246657.2	37	c.201C>A	CCDS11369.1																																																																																				PASS	0.493	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			8	52	8	52	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843900	40843900	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:40843900G>T	ENST00000264638.4	+	16	2638	c.2421G>T	c.(2419-2421)ctG>ctT	p.L807L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	807					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.L807L(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACCACAGCCTGGATGTCTCCT	0.577																																						uc002iay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2419-2421)CTG>CTT		contactin associated protein 1 precursor							189.0	195.0	193.0					17																	40843900		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843900G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2421G>T	17.37:g.40843900G>T						CNTNAP1_uc010wgs.1_RNA	p.L807L	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2637	+		Breast(137;0.000143)	807			Extracellular (Potential).			Silent	SNP	ENST00000264638.4	37	c.2421G>T	CCDS11436.1																																																																																				PASS	0.577	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		10	130	10	130	---	---	---	---
CNTD1	124817	broad.mit.edu	37	17	40955684	40955684	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:40955684G>T	ENST00000588408.1	+	2	492	c.216G>T	c.(214-216)gtG>gtT	p.V72V	CNTD1_ENST00000588527.1_5'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	72	Cyclin N-terminal.							p.V72V(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAAATCTGTGAGCTACCAGG	0.423																																						uc002ibm.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(214-216)GTG>GTT		cyclin N-terminal domain containing 1							248.0	225.0	232.0					17																	40955684		2203	4300	6503	SO:0001819	synonymous_variant	124817							g.chr17:40955684G>T	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.216G>T	17.37:g.40955684G>T						CNTD1_uc010wha.1_5'UTR	p.V72V	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	2	448	+		Breast(137;0.00104)	72			Cyclin N-terminal.		Q658Q6|Q8NEP1	Silent	SNP	ENST00000588408.1	37	c.216G>T	CCDS11440.1																																																																																				PASS	0.423	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		8	179	8	179	---	---	---	---
BECN1	8678	broad.mit.edu	37	17	40963737	40963737	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:40963737C>A	ENST00000361523.4	-	11	1252	c.1120G>T	c.(1120-1122)Gac>Tac	p.D374Y	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.D374Y	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	374					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.D374Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGCACACAGTCCAGGAAAGCC	0.488																																						uc002ibo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)GAC>TAC		beclin 1							179.0	157.0	165.0					17																	40963737		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40963737C>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1120G>T	17.37:g.40963737C>A	ENSP00000355231:p.Asp374Tyr					BECN1_uc010whb.1_Missense_Mutation_p.D287Y|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.D374Y	p.D374Y	NM_003766	NP_003757	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	11	1255	-		Breast(137;0.00104)	374					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.1120G>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725107	0.89298	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.50001	0.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75822	-0.3182	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	374	Q14457	BECN1_HUMAN	Y	374;287	ENSP00000355231:D374Y	ENSP00000355231:D374Y	D	-	1	0	BECN1	38217263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.488	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		15	85	15	85	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478509	42478509	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:42478509G>T	ENST00000591680.1	-	8	966	c.936C>A	c.(934-936)ctC>ctA	p.L312L	GPATCH8_ENST00000434000.1_Silent_p.L234L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	312							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L312L(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTATTGATTCGAGTTTGACAG	0.463											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(934-936)CTC>CTA		G patch domain containing 8							164.0	180.0	175.0					17																	42478509		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478509G>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.936C>A	17.37:g.42478509G>T			OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Silent_p.L234L|GPATCH8_uc010wiz.1_Silent_p.L234L	p.L312L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1000	-		Prostate(33;0.0181)	312					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.936C>A	CCDS32666.1																																																																																				PASS	0.463	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		8	244	8	244	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008415	50008415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:50008415C>A	ENST00000285273.4	-	4	1325	c.214G>T	c.(214-216)Gag>Tag	p.E72*	CA10_ENST00000570565.1_5'UTR|CA10_ENST00000340813.6_Nonsense_Mutation_p.E78*|CA10_ENST00000442502.2_Nonsense_Mutation_p.E72*|CA10_ENST00000451037.2_Nonsense_Mutation_p.E72*	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	72					brain development (GO:0007420)			p.E72*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TGACTGGTCTCTATGTTGACT	0.468																																						uc002itw.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(214-216)GAG>TAG		carbonic anhydrase X							251.0	235.0	240.0					17																	50008415		2203	4300	6503	SO:0001587	stop_gained	56934				brain development			g.chr17:50008415C>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.214G>T	17.37:g.50008415C>A	ENSP00000285273:p.Glu72*					CA10_uc002itv.3_Nonsense_Mutation_p.E78*|CA10_uc002itx.3_Nonsense_Mutation_p.E72*|CA10_uc002ity.3_Nonsense_Mutation_p.E72*|CA10_uc002itz.2_Nonsense_Mutation_p.E72*	p.E72*	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1200	-			72					B2R7J0|B4DGL6	Nonsense_Mutation	SNP	ENST00000285273.4	37	c.214G>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	46	12.136242	0.99639	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	.	.	.	X	72;72;72;78	.	.	E	-	1	0	CA10	47363414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.298000	0.78815	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.468	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		9	160	9	160	---	---	---	---
DGKE	8526	broad.mit.edu	37	17	54912188	54912188	+	Nonsense_Mutation	SNP	C	C	A	rs148605410		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:54912188C>A	ENST00000284061.3	+	2	212	c.32C>A	c.(31-33)tCg>tAg	p.S11*	C17orf67_ENST00000575658.1_5'Flank|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Nonsense_Mutation_p.S11*|DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000397861.2_5'Flank	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	11					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S11*(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GCGCCGGGCTCGCCCTCCGAG	0.647																																						uc002iur.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)	2						c.(31-33)TCG>TAG		diacylglycerol kinase epsilon							78.0	118.0	104.0					17																	54912188		2189	4277	6466	SO:0001587	stop_gained	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912188C>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.32C>A	17.37:g.54912188C>A	ENSP00000284061:p.Ser11*					DGKE_uc002ius.1_Nonsense_Mutation_p.S11*|C17orf67_uc002iuq.2_5'Flank	p.S11*	NM_003647	NP_003638	P52429	DGKE_HUMAN			2	212	+	Breast(9;3.59e-07)		11					Q8TBM4|Q9UKQ3	Nonsense_Mutation	SNP	ENST00000284061.3	37	c.32C>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354279	0.95830	.	.	ENSG00000153933	ENST00000284061	.	.	.	3.3	2.29	0.28610	.	1.962630	0.01804	N	0.033048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	8.3985	0.32572	0.0:0.7575:0.2425:0.0	.	.	.	.	X	11	.	ENSP00000284061:S11X	S	+	2	0	DGKE	52267187	0.007000	0.16637	0.955000	0.39395	0.168000	0.22595	1.683000	0.37638	0.673000	0.31224	0.561000	0.74099	TCG		PASS	0.647	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		6	139	6	139	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	57050227	57050227	+	Missense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:57050227G>A	ENST00000308249.2	+	6	1280	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	133					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.C384Y(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTTGGAGGTTGCGTAGTCTGG	0.403																																						uc002iwx.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|lung(1)|skin(1)	5						c.(1150-1152)TGC>TAC		protein phosphatase 1E							229.0	218.0	221.0					17																	57050227		2203	4300	6503	SO:0001583	missense	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57050227G>A	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1151G>A	17.37:g.57050227G>A	ENSP00000312411:p.Cys384Tyr					PPM1E_uc010ddd.2_Missense_Mutation_p.C147Y	p.C384Y	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		6	1278	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		393			PP2C-like.		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	c.1151G>A	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496413	0.85069	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.16073	2.37	5.58	5.58	0.84498	.	0.085942	0.85682	D	0.000000	T	0.27134	0.0665	N	0.16037	0.36	0.80722	D	1	P;D	0.67145	0.732;0.996	P;D	0.74348	0.556;0.983	T	0.09840	-1.0656	10	0.34782	T	0.22	-8.3654	19.5757	0.95441	0.0:0.0:1.0:0.0	.	393;384	Q8WY54-3;Q8WY54-2	.;.	Y	384;235	ENSP00000312411:C384Y	ENSP00000312411:C384Y	C	+	2	0	PPM1E	54405009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.612000	0.88384	0.563000	0.77884	TGC		PASS	0.403	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		23	97	23	97	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57728613	57728613	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:57728613C>A	ENST00000269122.3	+	5	1005	c.731C>A	c.(730-732)cCa>cAa	p.P244Q	CLTC_ENST00000393043.1_Missense_Mutation_p.P244Q|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	244	Globular terminal domain.|WD40-like repeat 5.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.P244Q(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAGCCCTTTCCAAAGAAGGCA	0.343			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(730-732)CCA>CAA		clathrin heavy chain 1							160.0	164.0	163.0					17																	57728613		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57728613C>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.731C>A	17.37:g.57728613C>A	ENSP00000269122:p.Pro244Gln					CLTC_uc002ixp.2_Missense_Mutation_p.P244Q|CLTC_uc002ixr.1_Missense_Mutation_p.P248Q	p.P244Q	NM_004859	NP_004850	Q00610	CLH1_HUMAN			5	1174	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		244			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.731C>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095332	0.36952	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21191	2.02;2.02	5.62	5.62	0.85841	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.04508	-0.205	0.80722	D	1	B;B	0.20052	0.041;0.0	B;B	0.24155	0.051;0.003	T	0.20075	-1.0286	10	0.10636	T	0.68	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	244;244	Q00610;Q00610-2	CLH1_HUMAN;.	Q	244	ENSP00000269122:P244Q;ENSP00000376763:P244Q	ENSP00000269122:P244Q	P	+	2	0	CLTC	55083395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.046000	0.71029	2.810000	0.96702	0.585000	0.79938	CCA		PASS	0.343	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		8	203	8	203	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57762524	57762524	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:57762524C>A	ENST00000269122.3	+	29	4816	c.4542C>A	c.(4540-4542)ctC>ctA	p.L1514L	CLTC_ENST00000393043.1_Silent_p.L1514L|CLTC_ENST00000579456.1_Silent_p.L451L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1514	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.L1514L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGCTTATCTCTTCAAAGGCA	0.423			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(4540-4542)CTC>CTA		clathrin heavy chain 1							119.0	120.0	120.0					17																	57762524		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57762524C>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4542C>A	17.37:g.57762524C>A						CLTC_uc002ixp.2_Silent_p.L1514L|CLTC_uc002ixr.1_Silent_p.L1518L	p.L1514L	NM_004859	NP_004850	Q00610	CLH1_HUMAN			29	4985	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1514			Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.4542C>A	CCDS32696.1																																																																																				PASS	0.423	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		9	116	9	116	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61889361	61889361	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:61889361C>G	ENST00000578681.1	+	15	2069	c.1468C>G	c.(1468-1470)Cgg>Ggg	p.R490G	DDX42_ENST00000457800.2_Missense_Mutation_p.R490G|DDX42_ENST00000583590.1_Missense_Mutation_p.R490G|DDX42_ENST00000359353.5_Missense_Mutation_p.R371G|DDX42_ENST00000389924.2_Missense_Mutation_p.R490G	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	490	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R490G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGGCTTACCCGGCGTCTGGT	0.433																																						uc002jbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)	5						c.(1468-1470)CGG>GGG		DEAD box polypeptide 42 protein							188.0	195.0	192.0					17																	61889361		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61889361C>G	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1468C>G	17.37:g.61889361C>G	ENSP00000464050:p.Arg490Gly					DDX42_uc002jbv.2_Missense_Mutation_p.R490G|DDX42_uc002jbw.1_Missense_Mutation_p.R226G|DDX42_uc002jbx.2_Missense_Mutation_p.R226G|DDX42_uc002jby.2_Missense_Mutation_p.R36G	p.R490G	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			15	1725	+			490			Helicase C-terminal.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1468C>G	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800278	0.50208	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.04862	3.54;3.54	5.74	4.75	0.60458	Helicase, C-terminal (1);	0.216526	0.49305	D	0.000151	T	0.07413	0.0187	L	0.32530	0.975	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.17433	0.018;0.002	T	0.18085	-1.0348	10	0.46703	T	0.11	-11.3982	16.0028	0.80308	0.0:0.8652:0.1348:0.0	.	36;490	B3KV84;Q86XP3	.;DDX42_HUMAN	G	490;490;226	ENSP00000374574:R490G;ENSP00000390121:R490G	ENSP00000352308:R226G	R	+	1	2	DDX42	59243093	0.975000	0.34042	0.999000	0.59377	0.997000	0.91878	2.435000	0.44811	1.541000	0.49316	0.650000	0.86243	CGG		PASS	0.433	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		5	199	5	199	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67150376	67150376	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr17:67150376C>A	ENST00000269081.4	-	32	4695	c.3786G>T	c.(3784-3786)gtG>gtT	p.V1262V	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1262	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1262V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGTCACATACCACTCCTGCAG	0.323																																						uc010dfa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3784-3786)GTG>GTT		ATP-binding cassette, sub-family A, member 10							83.0	80.0	81.0					17																	67150376		2203	4300	6503	SO:0001630	splice_region_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67150376C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3786+1G>T	17.37:g.67150376C>A						ABCA10_uc010wqs.1_Silent_p.V254V|ABCA10_uc010wqt.1_RNA	p.V1262V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			32	4665	-	Breast(10;6.95e-12)		1262			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.3786G>T	CCDS11684.1																																																																																				PASS	0.323	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	Silent	9	74	9	74	---	---	---	---
USP14	9097	broad.mit.edu	37	18	210396	210396	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:210396C>A	ENST00000261601.7	+	15	1327	c.1236C>A	c.(1234-1236)tcC>tcA	p.S412S	USP14_ENST00000383589.2_Silent_p.S366S|USP14_ENST00000400266.3_Silent_p.S401S|USP14_ENST00000582707.1_Silent_p.S377S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	412	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S412S(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATATTGGCTCCAATAATTGTG	0.348																																						uc002kkf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1234-1236)TCC>TCA		ubiquitin specific protease 14 isoform a							101.0	99.0	100.0					18																	210396		2203	4297	6500	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:210396C>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1236C>A	18.37:g.210396C>A						USP14_uc002kkg.1_Silent_p.S377S|USP14_uc010wyr.1_Silent_p.S401S	p.S412S	NM_005151	NP_005142	P54578	UBP14_HUMAN			15	1452	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	412					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.1236C>A	CCDS32780.1																																																																																				PASS	0.348	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		7	110	7	110	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	333036	333036	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:333036G>C	ENST00000400256.3	-	7	2131	c.1924C>G	c.(1924-1926)Ctt>Gtt	p.L642V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	642	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.L642V(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ATGAAAACAAGATGTGAAGAC	0.378																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1924-1926)CTT>GTT		collectin sub-family member 12							81.0	87.0	85.0					18																	333036		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:333036G>C	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1924C>G	18.37:g.333036G>C	ENSP00000383115:p.Leu642Val						p.L642V	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			7	2139	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	642			Extracellular (Potential).|C-type lectin.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1924C>G	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586198	0.46110	.	.	ENSG00000158270	ENST00000400256	T	0.60299	0.2	5.91	5.91	0.95273	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.85299	2.745	0.43907	D	0.99654	P	0.49961	0.93	B	0.41374	0.355	T	0.58239	-0.7671	10	0.19590	T	0.45	-13.5788	7.7517	0.28901	0.1898:0.0:0.8102:0.0	.	642	Q5KU26	COL12_HUMAN	V	642	ENSP00000383115:L642V	ENSP00000383115:L642V	L	-	1	0	COLEC12	323036	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.997000	0.40786	2.803000	0.96430	0.650000	0.86243	CTT		PASS	0.378	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			21	77	21	77	---	---	---	---
CLUL1	27098	broad.mit.edu	37	18	627165	627165	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:627165C>A	ENST00000400606.2	+	5	637	c.492C>A	c.(490-492)ctC>ctA	p.L164L	CLUL1_ENST00000581619.1_Silent_p.L189L|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Silent_p.L216L|CLUL1_ENST00000579494.1_Silent_p.L164L|CLUL1_ENST00000338387.7_Silent_p.L164L	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	164					cell death (GO:0008219)	extracellular region (GO:0005576)		p.L164L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AAAAAGATCTCCCCATCAGTG	0.393																																						uc002kkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(490-492)CTC>CTA		clusterin-like 1 (retinal) precursor							133.0	119.0	123.0					18																	627165		1874	4120	5994	SO:0001819	synonymous_variant	27098				cell death	extracellular region		g.chr18:627165C>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.492C>A	18.37:g.627165C>A						CLUL1_uc010wys.1_Silent_p.L216L|CLUL1_uc002kkq.2_Silent_p.L164L	p.L164L	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			5	637	+			164					A0FDN7	Silent	SNP	ENST00000400606.2	37	c.492C>A	CCDS42405.1																																																																																				PASS	0.393	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			7	99	7	99	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3086126	3086126	+	Silent	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:3086126A>G	ENST00000356443.4	-	30	4494	c.4161T>C	c.(4159-4161)acT>acC	p.T1387T	MYOM1_ENST00000400569.3_Silent_p.T1387T|MYOM1_ENST00000261606.7_Silent_p.T1291T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1387	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T1387T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACACAATATGAGTCTCCTTCT	0.358																																						uc002klp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4159-4161)ACT>ACC		myomesin 1 isoform a							142.0	125.0	130.0					18																	3086126		1844	4092	5936	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3086126A>G	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4161T>C	18.37:g.3086126A>G						MYOM1_uc002klq.2_Silent_p.T1291T	p.T1387T	NM_003803	NP_003794	P52179	MYOM1_HUMAN			30	4495	-			1387			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.4161T>C	CCDS45824.1																																																																																				PASS	0.358	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		13	89	13	89	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3142053	3142053	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:3142053C>A	ENST00000356443.4	-	14	2242	c.1909G>T	c.(1909-1911)Gtg>Ttg	p.V637L	MYOM1_ENST00000400569.3_Missense_Mutation_p.V637L|MYOM1_ENST00000261606.7_Missense_Mutation_p.V637L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	637					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.V637L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGGCCAGGCACAATACCCTCT	0.557																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1909-1911)GTG>TTG		myomesin 1 isoform a							67.0	71.0	70.0					18																	3142053		1932	4130	6062	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3142053C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1909G>T	18.37:g.3142053C>A	ENSP00000348821:p.Val637Leu					MYOM1_uc002klq.2_Missense_Mutation_p.V637L	p.V637L	NM_003803	NP_003794	P52179	MYOM1_HUMAN			14	2243	-			637					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1909G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705210	0.48412	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.54279	0.58;0.58;0.58	5.9	-2.39	0.06602	Immunoglobulin-like fold (1);	0.364293	0.29760	N	0.011270	T	0.45875	0.1364	L	0.50333	1.59	0.26363	N	0.977014	B;B	0.30824	0.296;0.087	B;B	0.38428	0.273;0.082	T	0.42816	-0.9429	10	0.28530	T	0.3	.	12.1627	0.54113	0.0:0.4197:0.0:0.5803	.	637;637	P52179-2;P52179	.;MYOM1_HUMAN	L	637	ENSP00000348821:V637L;ENSP00000383413:V637L;ENSP00000261606:V637L	ENSP00000261606:V637L	V	-	1	0	MYOM1	3132053	0.175000	0.23083	0.494000	0.27515	0.993000	0.82548	0.049000	0.14099	-0.926000	0.03770	0.650000	0.86243	GTG		PASS	0.557	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	47	5	47	---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6237993	6237993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:6237993C>A	ENST00000284898.6	-	10	954	c.754G>T	c.(754-756)Gag>Tag	p.E252*	L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.E252*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.E252*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.E65*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.E252*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	252					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E252*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTTCCATTCTCCTGACACCAA	0.443																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(754-756)GAG>TAG		l(3)mbt-like 4							164.0	148.0	153.0					18																	6237993		2203	4300	6503	SO:0001587	stop_gained	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6237993C>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.754G>T	18.37:g.6237993C>A	ENSP00000284898:p.Glu252*					L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.E252*|L3MBTL4_uc002kmy.3_Nonsense_Mutation_p.E90*	p.E252*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			10	914	-		Colorectal(10;0.0249)	252			MBT 2.		A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	ENST00000284898.6	37	c.754G>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	39	7.674680	0.98425	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	.	.	.	5.05	-0.851	0.10716	.	0.414798	0.20881	N	0.083991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1912	0.20526	0.0:0.4828:0.2553:0.2619	.	.	.	.	X	252;252;252;65;252	.	ENSP00000284898:E252X	E	-	1	0	L3MBTL4	6227993	0.952000	0.32445	0.992000	0.48379	0.997000	0.91878	0.872000	0.28037	-0.079000	0.12707	0.585000	0.79938	GAG		PASS	0.443	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		7	102	7	102	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8370999	8370999	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:8370999G>C	ENST00000332175.8	+	22	4164	c.3127G>C	c.(3127-3129)Gaa>Caa	p.E1043Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.E981Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1056Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E830Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1057Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1043	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.E1043Q(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)				ATTTGCTGTTGAAAAGGTAAG	0.353																																						uc002knn.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3127-3129)GAA>CAA		protein tyrosine phosphatase, receptor type, M							96.0	95.0	96.0					18																	8370999		2203	4300	6503	SO:0001583	missense	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.chr18:8370999G>C	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.3127G>C	18.37:g.8370999G>C	ENSP00000331418:p.Glu1043Gln					PTPRM_uc010dkv.2_Missense_Mutation_p.E1056Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E830Q	p.E1043Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			22	3630	+		Colorectal(10;0.234)	1043			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3127G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871723	0.72065	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	N	0.17248	0.465	0.80722	D	1	B;D;D	0.69078	0.106;0.997;0.992	B;D;D	0.77557	0.168;0.99;0.979	T	0.78206	-0.2294	10	0.11182	T	0.66	.	20.1271	0.97986	0.0:0.0:1.0:0.0	.	830;1056;1043	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1043;1057;981;830	ENSP00000331418:E1043Q;ENSP00000382933:E1057Q;ENSP00000382927:E981Q;ENSP00000387608:E830Q	ENSP00000331418:E1043Q	E	+	1	0	PTPRM	8360999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.834000	0.97654	0.650000	0.86243	GAA		PASS	0.353	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			9	66	9	66	---	---	---	---
NDUFV2	4729	broad.mit.edu	37	18	9126889	9126889	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:9126889C>A	ENST00000318388.6	+	7	754	c.640C>A	c.(640-642)Cca>Aca	p.P214T	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.P217T|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	214					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.P214T(1)		breast(1)|lung(4)|ovary(1)|stomach(1)	7						TGGCAAAATCCCAAAACCAGG	0.299																																						uc002knu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)CCA>ACA		NADH dehydrogenase ubiquinone flavoprotein 2	NADH(DB00157)						123.0	147.0	139.0					18																	9126889		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9126889C>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.640C>A	18.37:g.9126889C>A	ENSP00000327268:p.Pro214Thr						p.P214T	NM_021074	NP_066552	P19404	NDUV2_HUMAN			7	707	+			214					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.640C>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.403954	0.62288	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.52983	0.65;0.64	5.41	5.41	0.78517	Thioredoxin-like fold (1);	0.099239	0.64402	D	0.000001	T	0.61527	0.2354	M	0.91090	3.175	0.80722	D	1	B	0.24920	0.114	B	0.28139	0.086	T	0.65191	-0.6228	10	0.54805	T	0.06	-8.2401	17.734	0.88387	0.0:1.0:0.0:0.0	.	214	P19404	NDUV2_HUMAN	T	214;217	ENSP00000327268:P214T;ENSP00000382908:P217T	ENSP00000327268:P214T	P	+	1	0	NDUFV2	9116889	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.687000	0.84139	2.688000	0.91661	0.655000	0.94253	CCA		PASS	0.299	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		10	335	10	335	---	---	---	---
VAPA	9218	broad.mit.edu	37	18	9954179	9954179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:9954179G>T	ENST00000400000.2	+	6	976	c.721G>T	c.(721-723)Gga>Tga	p.G241*	VAPA_ENST00000340541.4_Nonsense_Mutation_p.G286*	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	241					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.G286*(1)		breast(1)|lung(2)|prostate(1)	4						CATTTTCATTGGATTCTTTCT	0.378																																						uc002kok.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(721-723)GGA>TGA		vesicle-associated membrane protein-associated							241.0	215.0	223.0					18																	9954179		1870	4097	5967	SO:0001587	stop_gained	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9954179G>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.721G>T	18.37:g.9954179G>T	ENSP00000382880:p.Gly241*					VAPA_uc002koj.2_Nonsense_Mutation_p.G286*	p.G241*	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN			6	1020	+			241			Helical; Anchor for type IV membrane protein; (Potential).		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Nonsense_Mutation	SNP	ENST00000400000.2	37	c.721G>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	G	33	5.202335	0.94997	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.1345	18.8558	0.92251	0.0:0.0:1.0:0.0	.	.	.	.	X	286;241	.	.	G	+	1	0	VAPA	9944179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.162000	0.94745	2.452000	0.82932	0.561000	0.74099	GGA		PASS	0.378	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			11	189	11	189	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13731773	13731773	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:13731773C>A	ENST00000383314.2	+	3	497	c.257C>A	c.(256-258)cCt>cAt	p.P86H	RNMT_ENST00000543302.2_Missense_Mutation_p.P86H|RNMT_ENST00000592764.1_Missense_Mutation_p.P86H|RNMT_ENST00000589866.1_Missense_Mutation_p.P86H|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000262173.3_Missense_Mutation_p.P86H			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	86					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.P86H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AAACTTGATCCTGAAATTGTC	0.363																																					GBM(29;474 594 19092 36647 41529)	uc002ksk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)CCT>CAT		RNA (guanine-7-) methyltransferase							92.0	100.0	97.0					18																	13731773		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13731773C>A	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.257C>A	18.37:g.13731773C>A	ENSP00000372804:p.Pro86His					RNMT_uc002ksl.1_Missense_Mutation_p.P86H|RNMT_uc002ksm.1_Missense_Mutation_p.P86H|RNMT_uc010dlk.2_Missense_Mutation_p.P86H|RNMT_uc010xae.1_Intron	p.P86H	NM_003799	NP_003790	O43148	MCES_HUMAN			2	324	+			86					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.257C>A	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001810	0.07819	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	3.13	0.36017	.	0.764911	0.11862	N	0.522268	T	0.17746	0.0426	N	0.08118	0	0.18873	N	0.999985	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13602	-1.0503	9	0.39692	T	0.17	-10.9982	5.5168	0.16912	0.1893:0.6853:0.0:0.1254	.	86;86	O43148-2;O43148	.;MCES_HUMAN	H	86	.	ENSP00000262173:P86H	P	+	2	0	RNMT	13721773	0.877000	0.30153	0.833000	0.33012	0.042000	0.13812	0.494000	0.22467	1.154000	0.42482	0.655000	0.94253	CCT		PASS	0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		7	100	7	100	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21328024	21328024	+	Splice_Site	SNP	C	C	A	rs367844923		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:21328024C>A	ENST00000313654.9	+	3	806	c.565C>A	c.(565-567)Cat>Aat	p.H189N	LAMA3_ENST00000399516.3_Splice_Site_p.H189N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.H189N(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATATTTTGCTCGTAAGTAATC	0.373																																						uc002kuq.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(565-567)CAT>AAT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						108.0	96.0	100.0					18																	21328024		1850	4097	5947	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21328024C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.565+1C>A	18.37:g.21328024C>A						LAMA3_uc010dlv.1_Missense_Mutation_p.H189N|LAMA3_uc002kur.2_Missense_Mutation_p.H189N	p.H189N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			3	651	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		189			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.565C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058196	0.19987	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.74737	-0.87;-0.87	5.67	4.8	0.61643	Laminin, N-terminal (3);	.	.	.	.	T	0.51550	0.1681	N	0.16166	0.38	0.80722	D	1	B;B;B	0.33198	0.401;0.093;0.016	B;B;B	0.30105	0.111;0.095;0.014	T	0.46456	-0.9190	9	0.16420	T	0.52	.	7.3675	0.26781	0.136:0.7217:0.0:0.1424	.	189;189;189	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	N	189	ENSP00000324532:H189N;ENSP00000382432:H189N	ENSP00000324532:H189N	H	+	1	0	LAMA3	19582022	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.966000	0.29331	1.404000	0.46819	0.650000	0.86243	CAT		PASS	0.373	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	5	81	5	81	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21508596	21508596	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:21508596G>T	ENST00000313654.9	+	64	8544	c.8303G>T	c.(8302-8304)cGa>cTa	p.R2768L	LAMA3_ENST00000587184.1_Missense_Mutation_p.R1103L|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2712L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R1159L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2768	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R2768L(1)|p.R1159L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAGCTTGTGCGATCTGCCTCA	0.418																																						uc002kuq.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8302-8304)CGA>CTA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						176.0	150.0	159.0					18																	21508596		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21508596G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8303G>T	18.37:g.21508596G>T	ENSP00000324532:p.Arg2768Leu					LAMA3_uc002kur.2_Missense_Mutation_p.R2712L|LAMA3_uc002kus.3_Missense_Mutation_p.R1159L|LAMA3_uc002kut.3_Missense_Mutation_p.R1103L	p.R2768L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			64	8389	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2768			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8303G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364315	0.82463	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.16457	2.34;2.34;2.34	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.45438	0.1342	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.997;0.999;0.998	T	0.36432	-0.9748	9	0.72032	D	0.01	.	17.0514	0.86519	0.0:0.0:1.0:0.0	.	1103;1159;2712;2768	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	2768;2712;1159	ENSP00000324532:R2768L;ENSP00000382432:R2712L;ENSP00000269217:R1159L	ENSP00000269217:R1159L	R	+	2	0	LAMA3	19762594	1.000000	0.71417	0.967000	0.41034	0.775000	0.43874	5.225000	0.65294	2.765000	0.95021	0.655000	0.94253	CGA		PASS	0.418	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		5	103	5	103	---	---	---	---
IMPACT	55364	broad.mit.edu	37	18	22007948	22007948	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:22007948C>A	ENST00000284202.4	+	2	243	c.102C>A	c.(100-102)gcC>gcA	p.A34A	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	34	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.A34A(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ATGACTGTGCCAAAATATTTT	0.388																																						uc002kvh.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)GCC>GCA		Impact homolog							166.0	168.0	167.0					18																	22007948		2203	4300	6503	SO:0001819	synonymous_variant	55364							g.chr18:22007948C>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.102C>A	18.37:g.22007948C>A						IMPACT_uc002kvg.3_Silent_p.A16A	p.A34A	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			2	214	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		34			RWD.		A8MXG0|Q49AM0|Q9H2X4	Silent	SNP	ENST00000284202.4	37	c.102C>A	CCDS11886.1																																																																																				PASS	0.388	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		8	156	8	156	---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23873404	23873404	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:23873404C>A	ENST00000269142.5	+	9	2739	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	TAF4B_ENST00000578121.1_Missense_Mutation_p.Q586K|TAF4B_ENST00000400466.2_Missense_Mutation_p.Q581K	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	581					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q581K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CATTCTAAAGCAAATTACTCT	0.308																																						uc002kvu.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(1741-1743)CAA>AAA		TAF4b RNA polymerase II, TATA box binding							36.0	34.0	34.0					18																	23873404		1785	4045	5830	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23873404C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1741C>A	18.37:g.23873404C>A	ENSP00000269142:p.Gln581Lys					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.Q586K	p.Q581K	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		9	2230	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		581					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1741C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404094	0.42613	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T	0.25250	1.93;1.81	5.44	5.44	0.79542	.	0.507469	0.21904	N	0.067402	T	0.46190	0.1380	M	0.62723	1.935	0.45648	D	0.998572	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.98	T	0.28073	-1.0055	10	0.07175	T	0.84	-8.7538	18.8519	0.92235	0.0:1.0:0.0:0.0	.	581;586	Q92750;A4PBF7	TAF4B_HUMAN;.	K	584;581;581	ENSP00000269142:Q581K;ENSP00000383314:Q581K	ENSP00000269142:Q581K	Q	+	1	0	TAF4B	22127402	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.340000	0.52143	2.554000	0.86153	0.467000	0.42956	CAA		PASS	0.308	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		10	79	10	79	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28710517	28710517	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:28710517G>T	ENST00000257198.5	-	16	2906	c.2645C>A	c.(2644-2646)cCc>cAc	p.P882H	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	882					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P882H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTAAATTTGGGTTCCAGGTG	0.418																																						uc002kwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2644-2646)CCC>CAC		desmocollin 1 isoform Dsc1a preproprotein							173.0	168.0	170.0					18																	28710517		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710517G>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2645C>A	18.37:g.28710517G>T	ENSP00000257198:p.Pro882His					DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	p.P882H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2907	-			882			Cytoplasmic (Potential).		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2645C>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527487	0.85706	.	.	ENSG00000134765	ENST00000257198	D	0.84070	-1.8	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.52532	D	0.000065	D	0.92941	0.7754	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92798	0.6254	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	882	Q08554	DSC1_HUMAN	H	882	ENSP00000257198:P882H	ENSP00000257198:P882H	P	-	2	0	DSC1	26964515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.475000	0.90417	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.418	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		7	135	7	135	---	---	---	---
INO80C	125476	broad.mit.edu	37	18	33048590	33048590	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:33048590C>A	ENST00000334598.7	-	5	680	c.564G>T	c.(562-564)acG>acT	p.T188T	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000590757.1_Silent_p.T91T|INO80C_ENST00000586489.1_Silent_p.T133T|RP11-322E11.5_ENST00000591141.1_lincRNA|INO80C_ENST00000592173.1_Intron|INO80C_ENST00000441607.2_Silent_p.T224T	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	188					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)		p.T188T(1)		central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GAACGATGCTCGTGGCCTTCC	0.522																																						uc002kyy.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)ACG>ACT		Ies6-similar protein isoform 2							119.0	124.0	122.0					18																	33048590		2203	4300	6503	SO:0001819	synonymous_variant	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33048590C>A		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.564G>T	18.37:g.33048590C>A						INO80C_uc002kyw.1_Intron|INO80C_uc002kyx.3_Silent_p.T133T|INO80C_uc010dmt.2_Silent_p.T224T	p.T188T	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN			5	681	-			188					B4DUI4|E9PCS7|Q86WR1|Q8N994	Silent	SNP	ENST00000334598.7	37	c.564G>T	CCDS11914.1																																																																																				PASS	0.522	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281		6	137	6	137	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43207095	43207095	+	Silent	SNP	C	C	A	rs147874580	byFrequency	TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:43207095C>A	ENST00000255226.6	+	4	1320	c.504C>A	c.(502-504)ctC>ctA	p.L168L	SLC14A2_ENST00000586448.1_Silent_p.L168L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	168					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.L168L(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACAGCTCTCGCCTTGGGCC	0.517																																						uc010dnj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(502-504)CTC>CTA		solute carrier family 14 (urea transporter),		C	,	0,4406		0,0,2203	96.0	107.0	103.0		504,504	-2.6	0.0	18	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,3,6500	AA,AC,CC		0.0349,0.0,0.0231	,	168/921,168/921	43207095	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43207095C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.504C>A	18.37:g.43207095C>A						SLC14A2_uc002lbb.2_Silent_p.L168L|SLC14A2_uc002lbe.2_Silent_p.L168L	p.L168L	NM_007163	NP_009094	Q15849	UT2_HUMAN			5	825	+			168			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.504C>A	CCDS11924.1																																																																																				PASS	0.517	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			5	49	5	49	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43459008	43459008	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:43459008C>A	ENST00000282041.5	-	33	5873	c.5839G>T	c.(5839-5841)Gcc>Tcc	p.A1947S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1947					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.A1947S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGGTCTTGGGCCAAACAGGTC	0.418																																						uc002lbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5839-5841)GCC>TCC		hypothetical protein LOC57724							101.0	101.0	101.0					18																	43459008		1905	4121	6026	SO:0001583	missense	57724				autophagy			g.chr18:43459008C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5839G>T	18.37:g.43459008C>A	ENSP00000282041:p.Ala1947Ser					KIAA1632_uc010xcq.1_Missense_Mutation_p.A501S|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A822S	p.A1947S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			33	5939	-			1947					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5839G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	3.237	-0.156274	0.06544	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10960	2.82	5.25	2.41	0.29592	.	.	.	.	.	T	0.03871	0.0109	N	0.05199	-0.095	0.24385	N	0.994772	B	0.12013	0.005	B	0.12156	0.007	T	0.45760	-0.9239	9	0.10111	T	0.7	-0.1578	2.4674	0.04556	0.2672:0.4613:0.1295:0.1421	.	1947	Q9HCE0	EPG5_HUMAN	S	1947;822	ENSP00000282041:A1947S	ENSP00000282041:A1947S	A	-	1	0	EPG5	41713006	1.000000	0.71417	0.986000	0.45419	0.315000	0.28087	0.847000	0.27696	0.191000	0.20236	0.563000	0.77884	GCC		PASS	0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		5	71	5	71	---	---	---	---
C18orf25	147339	broad.mit.edu	37	18	43796094	43796094	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:43796094G>T	ENST00000282059.6	+	2	622	c.248G>T	c.(247-249)cGa>cTa	p.R83L	C18orf25_ENST00000321319.6_Missense_Mutation_p.R83L	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	83								p.R83L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ACAACTGGCCGAGTTTATGAG	0.468																																						uc002lbw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(247-249)CGA>CTA		ARKadia-like 1 isoform a							117.0	117.0	117.0					18																	43796094		1965	4157	6122	SO:0001583	missense	147339							g.chr18:43796094G>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.248G>T	18.37:g.43796094G>T	ENSP00000282059:p.Arg83Leu					C18orf25_uc002lbx.2_Missense_Mutation_p.R83L	p.R83L	NM_145055	NP_659492	Q96B23	CR025_HUMAN			2	627	+			83					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.248G>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636835	0.67130	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.95	4.95	0.65309	.	0.200814	0.44097	D	0.000493	T	0.56543	0.1992	L	0.44542	1.39	0.49798	D	0.999827	P;P	0.47191	0.761;0.891	B;P	0.47044	0.272;0.535	T	0.59841	-0.7378	9	0.66056	D	0.02	-2.2537	12.7779	0.57459	0.0948:0.0:0.9052:0.0	.	83;83	Q96B23-2;Q96B23	.;CR025_HUMAN	L	83	.	ENSP00000282059:R83L	R	+	2	0	C18orf25	42050092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.445000	0.44899	1.274000	0.44362	0.655000	0.94253	CGA		PASS	0.468	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		5	106	5	106	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50961579	50961579	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:50961579G>T	ENST00000442544.2	+	22	3845	c.3229G>T	c.(3229-3231)Gag>Tag	p.E1077*	DCC_ENST00000581580.1_Splice_Site_p.E712*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1077					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.E1077*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCCTAAATGGTAAGTATAT	0.353																																						uc002lfe.1																			1	Substitution - Nonsense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3229-3231)GAG>TAG		netrin receptor DCC precursor							160.0	165.0	163.0					18																	50961579		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50961579G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3229+1G>T	18.37:g.50961579G>T						DCC_uc010dpf.1_Nonsense_Mutation_p.E712*	p.E1077*	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	22	3816	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1077			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000442544.2	37	c.3229G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	41	9.009496	0.99035	.	.	ENSG00000187323	ENST00000442544	.	.	.	5.2	5.2	0.72013	.	0.221851	0.36374	N	0.002636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-9.7053	16.0065	0.80367	0.0:0.0:1.0:0.0	.	.	.	.	X	1077	.	ENSP00000389140:E1077X	E	+	1	0	DCC	49215577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.296000	0.72751	2.593000	0.87608	0.655000	0.94253	GAG		PASS	0.353	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Nonsense_Mutation	9	231	9	231	---	---	---	---
DYNAP	284254	broad.mit.edu	37	18	52265134	52265134	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:52265134C>A	ENST00000321600.1	+	3	437	c.391C>A	c.(391-393)Ctt>Att	p.L131I	DYNAP_ENST00000585973.1_Missense_Mutation_p.L79I	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	131					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L131I(1)									AATTGGAGTACTTATAATATG	0.418																																						uc002lfq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CTT>ATT		hypothetical protein LOC284254							135.0	117.0	123.0					18																	52265134		2203	4300	6503	SO:0001583	missense	284254					integral to membrane		g.chr18:52265134C>A	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.391C>A	18.37:g.52265134C>A	ENSP00000315265:p.Leu131Ile					C18orf26_uc002lfp.1_Missense_Mutation_p.L79I	p.L131I	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN		Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)	3	437	+			131			Helical; (Potential).			Missense_Mutation	SNP	ENST00000321600.1	37	c.391C>A	CCDS11957.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789016	0.70337	.	.	ENSG00000178690	ENST00000321600	T	0.25085	1.82	4.82	4.82	0.62117	.	0.000000	0.42964	D	0.000631	T	0.48077	0.1480	L	0.59436	1.845	0.33460	D	0.584841	D	0.89917	1.0	D	0.91635	0.999	T	0.60424	-0.7266	10	0.87932	D	0	-9.2006	16.2033	0.82103	0.0:1.0:0.0:0.0	.	131	Q8N1N2	CR026_HUMAN	I	131	ENSP00000315265:L131I	ENSP00000315265:L131I	L	+	1	0	C18orf26	50416132	0.722000	0.28017	0.354000	0.25760	0.014000	0.08584	1.801000	0.38843	2.596000	0.87737	0.655000	0.94253	CTT		PASS	0.418	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		6	84	6	84	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55362765	55362765	+	Splice_Site	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:55362765C>A	ENST00000283684.4	-	8	698		c.e8-1		ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Splice_Site			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.?(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATTGGTTTCTCTAAAGGAATG	0.338																																						uc002lgw.2																			1	Unknown(1)		lung(1)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.e8-1		ATPase, class I, type 8B, member 1							92.0	86.0	88.0					18																	55362765		2203	4298	6501	SO:0001630	splice_region_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55362765C>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.699-1G>T	18.37:g.55362765C>A						uc002lgv.1_Intron	p.G233_splice	NM_005603	NP_005594	O43520	AT8B1_HUMAN			8	699	-		Colorectal(73;0.229)						Q9BTP8	Splice_Site	SNP	ENST00000283684.4	37	c.699_splice	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795121	0.70452	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.298	0.94131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8B1	53513763	0.998000	0.40836	1.000000	0.80357	0.848000	0.48234	3.782000	0.55401	2.906000	0.99361	0.655000	0.94253	.		PASS	0.338	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	Intron	6	65	6	65	---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58039353	58039353	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:58039353G>T	ENST00000299766.3	-	1	648	c.230C>A	c.(229-231)tCa>tAa	p.S77*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.S77*(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTACATGGGTGAATGCAGATT	0.428																																						uc002lie.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(229-231)TCA>TAA		melanocortin 4 receptor							104.0	99.0	101.0					18																	58039353		2203	4300	6503	SO:0001587	stop_gained	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039353G>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.230C>A	18.37:g.58039353G>T	ENSP00000299766:p.Ser77*						p.S77*	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	649	-		Colorectal(73;0.0946)	77			Cytoplasmic (Potential).		B2RAC3|Q16317|Q3MIJ6	Nonsense_Mutation	SNP	ENST00000299766.3	37	c.230C>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	40	8.359274	0.98777	.	.	ENSG00000166603	ENST00000299766	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3726	0.87382	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000299766:S77X	S	-	2	0	MC4R	56190333	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	9.813000	0.99286	2.777000	0.95525	0.655000	0.94253	TCA		PASS	0.428	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		6	44	6	44	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59217418	59217418	+	Missense_Mutation	SNP	G	G	C	rs369830447		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:59217418G>C	ENST00000262717.4	+	11	2254	c.1856G>C	c.(1855-1857)cGg>cCg	p.R619P	CDH20_ENST00000536675.2_Missense_Mutation_p.R619P|CDH20_ENST00000538374.1_Missense_Mutation_p.R619P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	619					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R619P(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)				AGTTTGAGCCGGGGCGCCCTC	0.587																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1855-1857)CGG>CCG		cadherin 20, type 2 preproprotein							76.0	60.0	66.0					18																	59217418		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59217418G>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.1856G>C	18.37:g.59217418G>C	ENSP00000262717:p.Arg619Pro					CDH20_uc002lif.2_Missense_Mutation_p.R613P	p.R619P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			10	1868	+		Colorectal(73;0.186)	619			Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1856G>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088802	0.36855	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.37058	1.22;1.22;1.22	5.93	5.01	0.66863	.	0.105147	0.64402	D	0.000008	T	0.24353	0.0590	N	0.12746	0.255	0.49483	D	0.999792	B	0.12630	0.006	B	0.13407	0.009	T	0.03773	-1.1005	10	0.42905	T	0.14	.	16.6247	0.84967	0.0:0.1297:0.8703:0.0	.	619	Q9HBT6	CAD20_HUMAN	P	619	ENSP00000444767:R619P;ENSP00000442226:R619P;ENSP00000262717:R619P	ENSP00000262717:R619P	R	+	2	0	CDH20	57368398	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	1.977000	0.40589	2.826000	0.97356	0.655000	0.94253	CGG		PASS	0.587	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		4	55	4	55	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179108	65179108	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:65179108C>A	ENST00000310045.7	-	2	4241	c.2768G>T	c.(2767-2769)aGt>aTt	p.S923I	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	913					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S923I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAATGCCCACTGCGGATATC	0.428																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(2767-2769)AGT>ATT		dermatan sulfate epimerase-like							76.0	77.0	77.0					18																	65179108		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179108C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2768G>T	18.37:g.65179108C>A	ENSP00000310565:p.Ser923Ile						p.S923I	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3992	-		Esophageal squamous(42;0.129)	913					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2768G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993344	0.35131	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18960	2.18	5.13	4.25	0.50352	Sulfotransferase domain (1);	0.949127	0.08908	N	0.876324	T	0.20292	0.0488	N	0.22421	0.69	0.09310	N	1	B	0.30793	0.295	B	0.41332	0.354	T	0.39542	-0.9609	10	0.54805	T	0.06	-3.2018	6.5108	0.22220	0.0:0.6817:0.1598:0.1585	.	913	Q8IZU8	DSEL_HUMAN	I	923;913	ENSP00000310565:S923I	ENSP00000310565:S923I	S	-	2	0	DSEL	63330088	0.006000	0.16342	0.018000	0.16275	0.974000	0.67602	1.670000	0.37502	1.144000	0.42321	0.563000	0.77884	AGT		PASS	0.428	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		5	42	5	42	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71740764	71740764	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:71740764G>T	ENST00000419743.2	-	10	1544	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	FBXO15_ENST00000269500.5_Missense_Mutation_p.L413I|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	489						SCF ubiquitin ligase complex (GO:0019005)		p.L413I(1)|p.L489I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTGACAATAAGGTATTCTTCG	0.433																																						uc002lle.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1237-1239)CTT>ATT		F-box protein 15 isoform 1							229.0	223.0	225.0					18																	71740764		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71740764G>T	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1465C>A	18.37:g.71740764G>T	ENSP00000393154:p.Leu489Ile					FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.L489I	p.L413I	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1573	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	413					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.1237C>A	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	g	9.256	1.042089	0.19748	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.42900	0.96;0.96	5.9	3.35	0.38373	.	0.382526	0.32041	N	0.006673	T	0.20861	0.0502	N	0.08118	0	0.19775	N	0.999956	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.14615	-1.0466	10	0.48119	T	0.1	-33.1805	6.8391	0.23953	0.7009:0.0:0.0652:0.234	.	489;413	B3KST3;Q8NCQ5	.;FBX15_HUMAN	I	413;489	ENSP00000269500:L413I;ENSP00000393154:L489I	ENSP00000269500:L413I	L	-	1	0	FBXO15	69891744	1.000000	0.71417	0.533000	0.28001	0.034000	0.12701	3.069000	0.50026	0.469000	0.27268	-0.298000	0.09462	CTT		PASS	0.433	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		7	118	7	118	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74622034	74622034	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr18:74622034G>T	ENST00000253159.8	+	15	2754	c.2556G>T	c.(2554-2556)gtG>gtT	p.V852V	ZNF236_ENST00000320610.9_Silent_p.V854V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	852					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V852V(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGGGTTTGTGGCTCCACAGG	0.512																																						uc002lmi.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(2554-2556)GTG>GTT		zinc finger protein 236							102.0	97.0	98.0					18																	74622034		1852	4094	5946	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74622034G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2556G>T	18.37:g.74622034G>T						ZNF236_uc002lmj.2_RNA	p.V852V	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	15	2754	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	852					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.2556G>T	CCDS42447.1																																																																																				PASS	0.512	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			10	31	10	31	---	---	---	---
PALM	5064	broad.mit.edu	37	19	734187	734187	+	Silent	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:734187G>A	ENST00000338448.5	+	6	481	c.435G>A	c.(433-435)acG>acA	p.T145T	PALM_ENST00000264560.7_Silent_p.T145T|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	145					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T145T(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CGGTGGGCACGCCCAAAGGTA	0.647																																						uc002lpm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(433-435)ACG>ACA		paralemmin isoform 1							62.0	63.0	63.0					19																	734187		2203	4300	6503	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:734187G>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.435G>A	19.37:g.734187G>A						PALM_uc010xft.1_Silent_p.T145T|PALM_uc002lpn.1_Silent_p.T145T|PALM_uc010xfu.1_Silent_p.T10T	p.T145T	NM_002579	NP_002570	O75781	PALM_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)|Lung(535;0.201)	6	629	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	145					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.435G>A	CCDS32857.1																																																																																				PASS	0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		11	36	11	36	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2185887	2185887	+	Silent	SNP	C	C	A	rs200956386		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:2185887C>A	ENST00000398665.3	+	3	195	c.159C>A	c.(157-159)ctC>ctA	p.L53L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	53	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.L53L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		ATCTCAAGCTCGCTATGGAGA	0.463																																						uc002lvb.3																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(157-159)CTC>CTA		DOT1-like, histone H3 methyltransferase							324.0	338.0	334.0					19																	2185887		1915	4125	6040	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2185887C>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.159C>A	19.37:g.2185887C>A							p.L53L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	195	+		Hepatocellular(1079;0.137)	53					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.159C>A	CCDS42460.1																																																																																				PASS	0.463	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	339	8	339	---	---	---	---
C19orf35	374872	broad.mit.edu	37	19	2276431	2276431	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:2276431G>C	ENST00000342063.3	-	4	763	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	224								p.L224V(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TGTGGAGACAGGGAGGCCTGC	0.721																																						uc002lvn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(670-672)CTG>GTG		hypothetical protein LOC374872							9.0	11.0	10.0					19																	2276431		2042	4008	6050	SO:0001583	missense	374872							g.chr19:2276431G>C	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.670C>G	19.37:g.2276431G>C	ENSP00000345102:p.Leu224Val					SPPL2B_uc010dsw.1_Intron	p.L224V	NM_198532	NP_940934	Q6ZS72	CS035_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)	4	770	-			224						Missense_Mutation	SNP	ENST00000342063.3	37	c.670C>G	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742593	0.49151	.	.	ENSG00000188305	ENST00000342063	T	0.17370	2.28	2.82	2.82	0.32997	.	.	.	.	.	T	0.28995	0.0720	L	0.41573	1.285	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.07347	-1.0777	9	0.31617	T	0.26	.	10.3484	0.43920	0.0:0.0:1.0:0.0	.	224	Q6ZS72	CS035_HUMAN	V	224	ENSP00000345102:L224V	ENSP00000345102:L224V	L	-	1	2	C19orf35	2227431	0.863000	0.29885	0.164000	0.22755	0.684000	0.39900	2.753000	0.47524	1.407000	0.46875	0.561000	0.74099	CTG		PASS	0.721	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		3	17	3	17	---	---	---	---
GTF2F1	2962	broad.mit.edu	37	19	6392877	6392877	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:6392877C>A	ENST00000394456.5	-	2	514	c.50G>T	c.(49-51)cGa>cTa	p.R17L	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	17					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|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)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R17L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTAGGAACTCGAACGACGTA	0.582											OREG0025199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002meq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CGA>CTA		general transcription factor IIF, polypeptide 1,							162.0	164.0	163.0					19																	6392877		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6392877C>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.50G>T	19.37:g.6392877C>A	ENSP00000377969:p.Arg17Leu		OREG0025199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	GTF2F1_uc010xjc.1_5'Flank	p.R17L	NM_002096	NP_002087	P35269	T2FA_HUMAN			2	335	-			17					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.50G>T	CCDS12165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.410680|7.410680	0.98265|0.98265	.|.	.|.	ENSG00000125651|ENSG00000125651	ENST00000542045|ENST00000394456;ENST00000541263	.|T	.|0.58797	.|0.31	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Transcription Factor IIF, Rap30/Rap74, interaction (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.74176	.|0.3682	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	.|T	.|0.74847	.|-0.3525	.|10	0.02654|0.49607	T|T	1|0.09	-15.0149|-15.0149	15.4688|15.4688	0.75426|0.75426	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|17	.|P35269	.|T2FA_HUMAN	X|L	8|17	.|ENSP00000377969:R17L	ENSP00000442766:E8X|ENSP00000377969:R17L	E|R	-|-	1|2	0|0	GTF2F1|GTF2F1	6343877|6343877	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.664000|0.664000	0.39144|0.39144	5.660000|5.660000	0.68018|0.68018	2.629000|2.629000	0.89072|0.89072	0.591000|0.591000	0.81541|0.81541	GAG|CGA		PASS	0.582	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		5	120	5	120	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7812213	7812213	+	Silent	SNP	G	G	T	rs147713865		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:7812213G>T	ENST00000315599.7	-	2	107	c.85C>A	c.(85-87)Cga>Aga	p.R29R	CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Silent_p.R29R|CD209_ENST00000593821.1_Intron|CD209_ENST00000602261.1_Silent_p.R29R|CD209_ENST00000315591.8_Silent_p.R29R|CD209_ENST00000394161.5_Silent_p.R29R|CD209_ENST00000354397.6_Silent_p.R29R|CD209_ENST00000601256.1_Silent_p.R29R|CD209_ENST00000204801.8_Intron|CD209_ENST00000601951.1_Silent_p.R29R|CD209_ENST00000394173.4_Silent_p.R29R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	29					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R29R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TTGTATCCTCGAGTCTGTCGG	0.577																																						uc002mht.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(85-87)CGA>AGA		CD209 molecule isoform 1							337.0	346.0	343.0					19																	7812213		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812213G>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.85C>A	19.37:g.7812213G>T						CD209_uc010xju.1_Silent_p.R29R|CD209_uc010dvp.2_Silent_p.R29R|CD209_uc002mhr.2_Silent_p.R29R|CD209_uc002mhs.2_Silent_p.R29R|CD209_uc002mhu.2_Silent_p.R29R|CD209_uc010dvq.2_Silent_p.R29R|CD209_uc002mhq.2_Silent_p.R29R|CD209_uc002mhv.2_Silent_p.R29R|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Silent_p.R29R	p.R29R	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			2	152	-			29			Cytoplasmic (Probable).		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.85C>A	CCDS12186.1																																																																																				PASS	0.577	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		10	237	10	237	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550698	8550698	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:8550698C>A	ENST00000325495.4	+	14	1427	c.1386C>A	c.(1384-1386)ctC>ctA	p.L462L	HNRNPM_ENST00000348943.3_Silent_p.L423L	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	462	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.L462L(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGCTGGGCCTCGACCACATGG	0.687																																						uc010dwe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1384-1386)CTC>CTA		heterogeneous nuclear ribonucleoprotein M							53.0	57.0	56.0					19																	8550698		2202	4298	6500	SO:0001819	synonymous_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550698C>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1386C>A	19.37:g.8550698C>A						HNRNPM_uc010xke.1_Silent_p.L408L|HNRNPM_uc010dwd.2_Silent_p.L423L|HNRNPM_uc002mka.2_Silent_p.L327L|HNRNPM_uc002mkb.1_5'Flank	p.L462L	NM_005968	NP_005959	P52272	HNRPM_HUMAN			14	1466	+			462			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|9.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1386C>A	CCDS12203.1																																																																																				PASS	0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	37	4	37	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11332606	11332606	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:11332606C>T	ENST00000294618.7	-	28	3482	c.3471G>A	c.(3469-3471)gtG>gtA	p.V1157V	DOCK6_ENST00000319867.7_Silent_p.V496V	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1157					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1157V(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACGAGCCTTCACAGTGGCCT	0.592																																						uc002mqs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3469-3471)GTG>GTA		dedicator of cytokinesis 6							79.0	89.0	85.0					19																	11332606		2090	4211	6301	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11332606C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3471G>A	19.37:g.11332606C>T						DOCK6_uc010xlq.1_Silent_p.V496V	p.V1157V	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			28	3512	-			1157					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.3471G>A	CCDS45975.1																																																																																				PASS	0.592	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	40	8	40	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461930	12461930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:12461930G>A	ENST00000242804.4	-	6	1051	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	ZNF442_ENST00000438182.1_Nonsense_Mutation_p.Q88*	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q157*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GTCCCACATTGTTTATGTGTA	0.403																																						uc002mtr.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|breast(1)|kidney(1)	4						c.(469-471)CAA>TAA		zinc finger protein 442							282.0	246.0	259.0					19																	12461930		2203	4300	6503	SO:0001587	stop_gained	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461930G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.469C>T	19.37:g.12461930G>A	ENSP00000242804:p.Gln157*					ZNF442_uc010xmk.1_Nonsense_Mutation_p.Q88*	p.Q157*	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1080	-			157					B4DJ48	Nonsense_Mutation	SNP	ENST00000242804.4	37	c.469C>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268052	0.23136	.	.	ENSG00000198342	ENST00000242804;ENST00000438182;ENST00000424168	.	.	.	0.832	-0.445	0.12242	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.2882	0.21045	0.0:0.6583:0.3416:0.0	.	.	.	.	X	157;88;88	.	ENSP00000242804:Q157X	Q	-	1	0	ZNF442	12322930	0.000000	0.05858	0.027000	0.17364	0.265000	0.26407	-1.453000	0.02383	-0.103000	0.12175	0.313000	0.20887	CAA		PASS	0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		20	87	20	87	---	---	---	---
DHPS	1725	broad.mit.edu	37	19	12790661	12790661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:12790661C>A	ENST00000210060.7	-	3	583	c.448G>T	c.(448-450)Gag>Tag	p.E150*	DHPS_ENST00000594424.1_Nonsense_Mutation_p.E108*|DHPS_ENST00000599481.1_5'UTR|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Nonsense_Mutation_p.E150*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	150					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)	p.E150*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						AGGCTAAACTCGCCCAAGTAT	0.607																																						uc002muh.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(448-450)GAG>TAG		deoxyhypusine synthase isoform a	Sulfadoxine(DB01299)						75.0	75.0	75.0					19																	12790661		2203	4300	6503	SO:0001587	stop_gained	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790661C>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.448G>T	19.37:g.12790661C>A	ENSP00000210060:p.Glu150*					DHPS_uc002muf.1_Nonsense_Mutation_p.E27*|DHPS_uc002mug.1_Nonsense_Mutation_p.E108*|DHPS_uc002mui.1_Nonsense_Mutation_p.E150*|DHPS_uc002muj.1_Nonsense_Mutation_p.E150*|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	p.E150*	NM_001930	NP_001921	P49366	DHYS_HUMAN			3	545	-			150					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Nonsense_Mutation	SNP	ENST00000210060.7	37	c.448G>T	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	C	37	6.274401	0.97431	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	.	.	.	5.51	4.48	0.54585	.	0.195146	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-26.137	12.0306	0.53396	0.0:0.9158:0.0:0.0842	.	.	.	.	X	150	.	ENSP00000210060:E150X	E	-	1	0	DHPS	12651661	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.050000	0.76620	1.328000	0.45358	0.655000	0.94253	GAG		PASS	0.607	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		4	46	4	46	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17163697	17163697	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:17163697C>A	ENST00000253669.5	-	10	1057	c.867G>T	c.(865-867)caG>caT	p.Q289H	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.Q288H|HAUS8_ENST00000593360.1_Missense_Mutation_p.Q228H			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	289					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.Q289H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						AGTCCAGCACCTGCACATTTT	0.537											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nfe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)CAG>CAT		sarcoma antigen NY-SAR-48 isoform a							186.0	161.0	170.0					19																	17163697		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17163697C>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.867G>T	19.37:g.17163697C>A	ENSP00000253669:p.Gln289His		OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	715	HAUS8_uc002nff.2_Missense_Mutation_p.Q288H|HAUS8_uc002nfg.1_Missense_Mutation_p.Q228H|HAUS8_uc002nfh.1_Missense_Mutation_p.Q289H	p.Q289H	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			10	978	-			289					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.867G>T	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647512	0.47258	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.76709	-1.04;-1.04	4.77	-1.71	0.08133	.	0.408254	0.21708	N	0.070308	T	0.67850	0.2937	L	0.34521	1.04	0.09310	N	1	P;P;P	0.49447	0.924;0.924;0.924	P;P;P	0.47941	0.562;0.46;0.46	T	0.63368	-0.6653	10	0.66056	D	0.02	-15.3914	8.0692	0.30678	0.0:0.4456:0.0:0.5544	.	228;288;289	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	H	289;288	ENSP00000253669:Q289H;ENSP00000395298:Q288H	ENSP00000253669:Q289H	Q	-	3	2	HAUS8	17024697	0.004000	0.15560	0.002000	0.10522	0.103000	0.19146	-0.258000	0.08733	0.010000	0.14839	-0.748000	0.03510	CAG		PASS	0.537	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		22	83	22	83	---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17373367	17373367	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:17373367C>T	ENST00000252597.3	-	4	809	c.636G>A	c.(634-636)caG>caA	p.Q212Q	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Silent_p.Q148Q	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.Q212Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCACCTCTTTCTGCAGCGTCT	0.582																																						uc002nfs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(634-636)CAG>CAA		Usher syndrome 1C binding protein 1							39.0	34.0	36.0					19																	17373367		2199	4295	6494	SO:0001819	synonymous_variant	83878						PDZ domain binding	g.chr19:17373367C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.636G>A	19.37:g.17373367C>T						USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.Q148Q|USHBP1_uc010eam.1_Silent_p.Q140Q	p.Q212Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			4	749	-			212			Potential.			Silent	SNP	ENST00000252597.3	37	c.636G>A	CCDS12353.1																																																																																				PASS	0.582	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		10	19	10	19	---	---	---	---
MEF2B	100271849	broad.mit.edu	37	19	19257870	19257870	+	Silent	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:19257870T>A	ENST00000602424.2	-	7	1242	c.516A>T	c.(514-516)ccA>ccT	p.P172P	MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Silent_p.P172P|MEF2B_ENST00000410050.1_Silent_p.P172P|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.P172P|MEF2B_ENST00000409447.2_Silent_p.P172P|MEF2B_ENST00000424583.2_Silent_p.P172P|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.P189P|MEF2B_ENST00000409224.1_Silent_p.P175P	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	172					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P172P(2)		breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGGGGGCTGCTGGTCGGAAGG	0.672																																						uc002nlm.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(514-516)CCA>CCT		myocyte enhancer factor 2B isoform a							15.0	17.0	16.0					19																	19257870		2202	4297	6499	SO:0001819	synonymous_variant	100271849							g.chr19:19257870T>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.516A>T	19.37:g.19257870T>A						MEF2B_uc002nln.2_Silent_p.P219P|MEF2B_uc002nll.2_Silent_p.P172P|LOC729991-MEF2B_uc010xqo.1_Silent_p.P172P|LOC729991-MEF2B_uc010xqp.1_Silent_p.P172P|LOC729991-MEF2B_uc002nlo.2_Silent_p.P172P|LOC729991-MEF2B_uc002nlp.2_Silent_p.P172P|MEF2B_uc002nlk.2_Silent_p.P175P	p.P172P	NM_001145785	NP_001139257			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		5	630	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	ENST00000602424.2	37	c.516A>T	CCDS12394.1																																																																																				PASS	0.672	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		5	15	5	15	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363137	22363137	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:22363137G>T	ENST00000397121.2	-	3	1699	c.1382C>A	c.(1381-1383)tCc>tAc	p.S461Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S461Y(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTGAGGACCAGGTGAA	0.418																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)TCC>TAC		zinc finger protein 676							127.0	131.0	130.0					19																	22363137		2153	4264	6417	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363137G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1382C>A	19.37:g.22363137G>T	ENSP00000380310:p.Ser461Tyr						p.S461Y	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1700	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	461			C2H2-type 11.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1382C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	1.490	-0.554962	0.03967	.	.	ENSG00000196109	ENST00000397121	T	0.10668	2.85	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	L	0.58925	1.835	0.09310	N	1	P	0.45044	0.849	B	0.32583	0.148	T	0.12116	-1.0560	9	0.46703	T	0.11	.	5.3186	0.15870	0.5654:0.0:0.4346:0.0	.	461	Q8N7Q3	ZN676_HUMAN	Y	461	ENSP00000380310:S461Y	ENSP00000380310:S461Y	S	-	2	0	ZNF676	22154977	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.901000	0.01597	-1.112000	0.02984	-1.112000	0.02068	TCC		PASS	0.418	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		24	81	24	81	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940353	22940353	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:22940353C>T	ENST00000596209.1	-	4	2448	c.2358G>A	c.(2356-2358)aaG>aaA	p.K786K	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.K695K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	786					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K695K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATAGGGTTTCTTTCCAGTAT	0.348																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2083-2085)AAG>AAA		zinc finger protein 99							32.0	35.0	34.0					19																	22940353		1995	4173	6168	SO:0001819	synonymous_variant	7652							g.chr19:22940353C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2358G>A	19.37:g.22940353C>T							p.K695K	NM_001080409	NP_001073878					5	2085	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2085G>A	CCDS59369.1																																																																																				PASS	0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	34	6	34	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32927415	32927415	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:32927415G>T	ENST00000342179.5	+	5	607	c.392G>T	c.(391-393)cGa>cTa	p.R131L	DPY19L3_ENST00000586987.1_Missense_Mutation_p.R131L|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R131L	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	131						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R131L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTCCTTCAGCGAATGAATATT	0.289																																						uc002ntg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(391-393)CGA>CTA		dpy-19-like 3							63.0	71.0	68.0					19																	32927415		2201	4288	6489	SO:0001583	missense	147991					integral to membrane		g.chr19:32927415G>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.392G>T	19.37:g.32927415G>T	ENSP00000344937:p.Arg131Leu					DPY19L3_uc002nth.1_Missense_Mutation_p.R131L|DPY19L3_uc002nti.1_5'Flank	p.R131L	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			5	568	+	Esophageal squamous(110;0.162)		131					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.392G>T	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315172	0.95655	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.68181	-0.31;-0.31	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.84875	0.5569	M	0.86028	2.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85967	0.1474	10	0.72032	D	0.01	-9.3233	20.2191	0.98319	0.0:0.0:1.0:0.0	.	131	Q6ZPD9	D19L3_HUMAN	L	131	ENSP00000376081:R131L;ENSP00000344937:R131L	ENSP00000315672:R131L	R	+	2	0	DPY19L3	37619255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.780000	0.95670	0.655000	0.94253	CGA		PASS	0.289	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		7	126	7	126	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33135333	33135333	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:33135333C>A	ENST00000306065.4	-	5	581	c.423G>T	c.(421-423)gtG>gtT	p.V141V	ANKRD27_ENST00000587352.1_Silent_p.V141V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	141					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V141V(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGAACTCTCTCACATCTTCAA	0.502																																						uc002ntn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(421-423)GTG>GTT		ankyrin repeat domain 27 (VPS9 domain)							253.0	263.0	260.0					19																	33135333		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135333C>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.423G>T	19.37:g.33135333C>A						ANKRD27_uc002nto.1_Silent_p.V141V	p.V141V	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			5	579	-	Esophageal squamous(110;0.137)		141					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.423G>T	CCDS32986.1																																																																																				PASS	0.502	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		8	203	8	203	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33424363	33424363	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:33424363G>T	ENST00000305768.5	-	8	968	c.880C>A	c.(880-882)Cag>Aag	p.Q294K	CEP89_ENST00000590597.2_Missense_Mutation_p.Q294K	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	294					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.Q294K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCACCTTCCTGTGACGACGCC	0.378																																						uc002nty.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)CAG>AAG		coiled-coil domain containing 123							194.0	176.0	182.0					19																	33424363		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33424363G>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.880C>A	19.37:g.33424363G>T	ENSP00000306105:p.Gln294Lys					CCDC123_uc002ntx.2_Missense_Mutation_p.Q47K|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.Q294K|CCDC123_uc002nua.2_Missense_Mutation_p.Q294K	p.Q294K	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			8	969	-	Esophageal squamous(110;0.137)		294			Potential.		B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.880C>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	4.135	0.023288	0.08006	.	.	ENSG00000121289	ENST00000305768	T	0.29142	1.58	5.09	1.57	0.23409	.	0.816632	0.11698	N	0.538225	T	0.23532	0.0569	L	0.52573	1.65	0.09310	N	1	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.16289	0.015;0.009;0.009	T	0.26780	-1.0093	10	0.13108	T	0.6	-3.6119	7.5945	0.28039	0.0:0.341:0.4833:0.1757	.	294;47;294	Q96ST8-3;Q96ST8-2;Q96ST8	.;.;CEP89_HUMAN	K	294	ENSP00000306105:Q294K	ENSP00000306105:Q294K	Q	-	1	0	CEP89	38116203	0.073000	0.21202	0.262000	0.24481	0.018000	0.09664	1.073000	0.30691	1.245000	0.43885	0.467000	0.42956	CAG		PASS	0.378	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		6	109	6	109	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39090569	39090569	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:39090569G>T	ENST00000591517.1	-	22	1693	c.1665C>A	c.(1663-1665)ctC>ctA	p.L555L	MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Silent_p.L551L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Silent_p.L555L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	555	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L555L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGACCTGAGAGAGACATGA	0.562																																						uc002oix.1																			2	Substitution - coding silent(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1663-1665)CTC>CTA		mitogen-activated protein kinase kinase kinase							137.0	141.0	140.0					19																	39090569		2039	4201	6240	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090569G>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1665C>A	19.37:g.39090569G>T						MAP4K1_uc002oiw.1_Silent_p.L142L|MAP4K1_uc002oiy.1_Silent_p.L555L|MAP4K1_uc010xug.1_Intron	p.L555L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		22	1773	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		555			CNH.			Silent	SNP	ENST00000591517.1	37	c.1665C>A	CCDS59385.1																																																																																				PASS	0.562	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		6	62	6	62	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41076417	41076417	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:41076417C>A	ENST00000352632.3	+	33	7188	c.7102C>A	c.(7102-7104)Cgg>Agg	p.R2368R	SPTBN4_ENST00000392025.1_Silent_p.R1111R|SPTBN4_ENST00000598249.1_Silent_p.R2368R			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2368					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2368R(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGACACCTcggccggaccg	0.776																																						uc002ony.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(7102-7104)CGG>AGG		spectrin, beta, non-erythrocytic 4 isoform							7.0	8.0	7.0					19																	41076417		1378	2958	4336	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41076417C>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7102C>A	19.37:g.41076417C>A						SPTBN4_uc002onz.2_Silent_p.R2368R|SPTBN4_uc010egx.2_Silent_p.R1111R	p.R2368R	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		33	7188	+			2368					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.7102C>A	CCDS12559.1																																																																																				PASS	0.776	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	5	3	5	---	---	---	---
SNRPA	6626	broad.mit.edu	37	19	41257326	41257326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:41257326G>T	ENST00000243563.3	+	1	563	c.13G>T	c.(13-15)Gag>Tag	p.E5*	C19orf54_ENST00000470681.1_5'Flank|C19orf54_ENST00000598729.1_5'Flank|C19orf54_ENST00000598485.2_5'Flank|C19orf54_ENST00000339153.3_5'Flank|C19orf54_ENST00000378313.2_5'Flank|SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	5					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)	p.E5*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGCAGTTCCCGAGACCCGCCC	0.493																																						uc002ooz.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(13-15)GAG>TAG		small nuclear ribonucleoprotein polypeptide A							165.0	160.0	162.0					19																	41257326		2203	4300	6503	SO:0001587	stop_gained	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41257326G>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.13G>T	19.37:g.41257326G>T	ENSP00000243563:p.Glu5*					C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank	p.E5*	NM_004596	NP_004587	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	548	+			5						Nonsense_Mutation	SNP	ENST00000243563.3	37	c.13G>T	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	43	9.954268	0.99304	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	.	.	.	6.07	5.03	0.67393	.	0.049809	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-60.1167	14.5152	0.67814	0.0713:0.0:0.9287:0.0	.	.	.	.	X	5	.	ENSP00000243563:E5X	E	+	1	0	SNRPA	45949166	1.000000	0.71417	0.999000	0.59377	0.839000	0.47603	9.102000	0.94226	1.577000	0.49804	0.655000	0.94253	GAG		PASS	0.493	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		6	133	6	133	---	---	---	---
GSK3A	2931	broad.mit.edu	37	19	42740862	42740862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:42740862C>A	ENST00000222330.3	-	4	689	c.562G>T	c.(562-564)Gag>Tag	p.E188*	AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E101*|GSK3A_ENST00000398249.4_Nonsense_Mutation_p.E106*	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E188*(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				AGGTAAAGCTCGTCTTTCTGC	0.562																																						uc002otb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)	4						c.(562-564)GAG>TAG		glycogen synthase kinase 3 alpha							107.0	102.0	104.0					19																	42740862		2203	4300	6503	SO:0001587	stop_gained	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42740862C>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.562G>T	19.37:g.42740862C>A	ENSP00000222330:p.Glu188*					GSK3A_uc002ota.1_Nonsense_Mutation_p.E106*|GSK3A_uc002otc.2_RNA	p.E188*	NM_019884	NP_063937	P49840	GSK3A_HUMAN			4	681	-		Prostate(69;0.00682)	188			Protein kinase.		O14959	Nonsense_Mutation	SNP	ENST00000222330.3	37	c.562G>T	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	37	6.595514	0.97692	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.4707	16.7888	0.85582	0.0:1.0:0.0:0.0	.	.	.	.	X	188;106;133	.	ENSP00000222330:E188X	E	-	1	0	GSK3A	47432702	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.137000	0.77295	2.329000	0.79093	0.491000	0.48974	GAG		PASS	0.562	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			5	47	5	47	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795796	42795796	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:42795796C>G	ENST00000575354.2	+	11	2825	c.2785C>G	c.(2785-2787)Cct>Gct	p.P929A	CIC_ENST00000160740.3_Missense_Mutation_p.P929A|CIC_ENST00000572681.2_Missense_Mutation_p.P1838A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	929	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P929A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCTGGCCGCCCCTAGCATGTC	0.677			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1				Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(2785-2787)CCT>GCT		capicua homolog							49.0	59.0	56.0					19																	42795796		2140	4206	6346	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795796C>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2785C>G	19.37:g.42795796C>G	ENSP00000458663:p.Pro929Ala						p.P929A	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			11	2825	+		Prostate(69;0.00682)	929			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.2785C>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153151	0.38021	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	T	0.52175	0.1718	N	0.14661	0.345	0.32961	D	0.521084	D	0.76494	0.999	D	0.75484	0.986	T	0.64655	-0.6356	8	0.87932	D	0	-8.2498	14.7526	0.69536	0.0:1.0:0.0:0.0	.	929	Q96RK0	CIC_HUMAN	A	929	.	ENSP00000160740:P929A	P	+	1	0	CIC	47487636	0.987000	0.35691	1.000000	0.80357	0.794000	0.44872	2.911000	0.48774	2.351000	0.79841	0.462000	0.41574	CCT		PASS	0.677	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	55	5	55	---	---	---	---
PSG11	5680	broad.mit.edu	37	19	43523145	43523145	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:43523145C>A	ENST00000401740.1	-	3	589	c.486G>T	c.(484-486)atG>atT	p.M162I	PSG11_ENST00000306322.7_Missense_Mutation_p.M40I|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Missense_Mutation_p.M162I|PSG11_ENST00000403486.1_Missense_Mutation_p.M40I			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	162	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.M162I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCACAGTCTCCATGGCCTCCC	0.527																																						uc002ovm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(484-486)ATG>ATT		pregnancy specific beta-1-glycoprotein 11							224.0	227.0	226.0					19																	43523145		2200	4297	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523145C>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.486G>T	19.37:g.43523145C>A	ENSP00000384995:p.Met162Ile					PSG11_uc002ouw.2_Missense_Mutation_p.M168I|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.M168I|PSG11_uc002ovn.1_Missense_Mutation_p.M168I|PSG11_uc002ovo.1_Missense_Mutation_p.M40I|PSG11_uc002ovp.1_Missense_Mutation_p.M40I	p.M162I	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	593	-		Prostate(69;0.00682)	162			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.486G>T	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	5.834	0.338138	0.11069	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.00717	5.79;5.79;5.79;5.79	1.13	-2.25	0.06888	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00637	0.0021	L	0.28274	0.84	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.21360	0.025;0.034	T	0.47995	-0.9073	9	0.66056	D	0.02	.	1.6312	0.02733	0.3268:0.393:0.0:0.2802	.	40;162	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	I	162;40;40;162	ENSP00000319140:M162I;ENSP00000385427:M40I;ENSP00000304913:M40I;ENSP00000384995:M162I	ENSP00000304913:M40I	M	-	3	0	PSG11	48214985	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.376000	0.07465	-0.292000	0.08999	0.184000	0.17185	ATG		PASS	0.527	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		7	126	7	126	---	---	---	---
CADM4	199731	broad.mit.edu	37	19	44131919	44131919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:44131919C>A	ENST00000222374.2	-	2	136	c.88G>T	c.(88-90)Gag>Tag	p.E30*	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	30	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E30*(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTCACGTTCTCTGTCTGTACT	0.522																																						uc002oxc.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(88-90)GAG>TAG		cell adhesion molecule 4 precursor							247.0	207.0	221.0					19																	44131919		2203	4300	6503	SO:0001587	stop_gained	199731				cell adhesion	integral to membrane		g.chr19:44131919C>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.88G>T	19.37:g.44131919C>A	ENSP00000222374:p.Glu30*						p.E30*	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			2	137	-		Prostate(69;0.0199)	30			Ig-like V-type.|Extracellular (Potential).		B2R7L5|Q9Y4A4	Nonsense_Mutation	SNP	ENST00000222374.2	37	c.88G>T	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339560	0.95783	.	.	ENSG00000105767	ENST00000222374	.	.	.	4.89	4.89	0.63831	.	0.110175	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.5877	0.76499	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000222374:E30X	E	-	1	0	CADM4	48823759	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	6.405000	0.73272	2.548000	0.85928	0.591000	0.81541	GAG		PASS	0.522	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		14	72	14	72	---	---	---	---
ZNF180	7733	broad.mit.edu	37	19	44982160	44982160	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:44982160G>T	ENST00000221327.4	-	5	819	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q153K|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q155K|ZNF180_ENST00000586637.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q180K(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTTTCCTTTGAGTGAATGCC	0.408																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(538-540)CAA>AAA		zinc finger protein 180							164.0	156.0	159.0					19																	44982160		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982160G>T	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.538C>A	19.37:g.44982160G>T	ENSP00000221327:p.Gln180Lys					ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.Q153K|ZNF180_uc002ozg.3_Missense_Mutation_p.Q179K|ZNF180_uc010ejm.2_Missense_Mutation_p.Q155K	p.Q180K	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	820	-		Prostate(69;0.0435)	180					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.538C>A	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	9.191	1.026155	0.19512	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07327	3.2;3.23	5.16	2.96	0.34315	.	0.609459	0.13689	N	0.369673	T	0.07052	0.0179	L	0.45352	1.415	0.21220	N	0.99976	B;B;B	0.26809	0.16;0.099;0.099	B;B;B	0.24541	0.054;0.024;0.024	T	0.27434	-1.0074	10	0.16420	T	0.52	-2.0041	8.5919	0.33693	0.0876:0.1577:0.7547:0.0	.	155;179;180	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	K	180;155	ENSP00000221327:Q180K;ENSP00000375818:Q155K	ENSP00000221327:Q180K	Q	-	1	0	ZNF180	49674000	0.001000	0.12720	0.020000	0.16555	0.971000	0.66376	0.855000	0.27805	2.683000	0.91414	0.655000	0.94253	CAA		PASS	0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		8	111	8	111	---	---	---	---
OPA3	80207	broad.mit.edu	37	19	46087920	46087920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:46087920C>A	ENST00000263275.4	-	1	157	c.103G>T	c.(103-105)Gag>Tag	p.E35*	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Nonsense_Mutation_p.E35*	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	35					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)		p.E35*(2)		cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TTGAAGAACTCGCTTCGGCGG	0.587																																						uc002pck.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(103-105)GAG>TAG		OPA3 protein isoform b							81.0	85.0	84.0					19																	46087920		2203	4300	6503	SO:0001587	stop_gained	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46087920C>A	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.103G>T	19.37:g.46087920C>A	ENSP00000263275:p.Glu35*					OPA3_uc002pcj.3_Nonsense_Mutation_p.E35*|OPA3_uc010xxk.1_Intron	p.E35*	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	1	203	-		Ovarian(192;0.051)|all_neural(266;0.112)	35					Q6P384|Q8N784	Nonsense_Mutation	SNP	ENST00000263275.4	37	c.103G>T	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	C	39	7.366761	0.98238	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	.	.	.	5.77	4.65	0.58169	.	0.054988	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.2772	14.3283	0.66534	0.0:0.8142:0.1858:0.0	.	.	.	.	X	35	.	ENSP00000263275:E35X	E	-	1	0	OPA3	50779760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.124000	0.57924	2.884000	0.98904	0.655000	0.94253	GAG		PASS	0.587	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			7	65	7	65	---	---	---	---
KLK3	354	broad.mit.edu	37	19	51361743	51361743	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:51361743G>T	ENST00000326003.2	+	4	563	c.522G>T	c.(520-522)gtG>gtT	p.V174V	KLK3_ENST00000360617.3_Silent_p.V174V|KLK3_ENST00000597483.1_Silent_p.V131V|KLK3_ENST00000593997.1_Silent_p.V174V|KLK3_ENST00000595952.1_Silent_p.V131V	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	174	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V174V(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TTCAGTGTGTGGACCTCCATG	0.547																																					Colon(185;1767 2023 13025 30120 37630)	uc002pts.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(520-522)GTG>GTT		prostate specific antigen isoform 3							213.0	184.0	194.0					19																	51361743		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361743G>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.522G>T	19.37:g.51361743G>T						KLK3_uc010ycj.1_Silent_p.V133V|KLK3_uc002ptr.1_Silent_p.V131V|KLK3_uc010eof.1_RNA	p.V174V	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	4	563	+		all_neural(266;0.057)	174			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.522G>T	CCDS12807.1																																																																																				PASS	0.547	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		7	64	7	64	---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51480838	51480838	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:51480838C>T	ENST00000391807.1	-	6	817	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.C126Y|KLK7_ENST00000595820.1_Missense_Mutation_p.C239Y|KLK7_ENST00000597707.1_Missense_Mutation_p.C167Y	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C239F(1)|p.C239Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GGTGAACTTGCACACTTGAGT	0.507																																						uc002puo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(715-717)TGC>TAC		stratum corneum chymotryptic enzyme							202.0	173.0	183.0					19																	51480838		2203	4300	6503	SO:0001583	missense	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51480838C>T	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.716G>A	19.37:g.51480838C>T	ENSP00000375683:p.Cys239Tyr					KLK7_uc002pup.2_Missense_Mutation_p.C239Y|KLK7_uc010yco.1_Missense_Mutation_p.C113Y|KLK7_uc010eok.2_Missense_Mutation_p.C167Y	p.C239Y	NM_139277	NP_644806	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	6	818	-		all_neural(266;0.026)	239			Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	c.716G>A	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	c	16.83	3.230974	0.58777	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;D	0.92545	-3.06;-2.34	4.45	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36665	U	0.002478	D	0.91482	0.7311	N	0.25060	0.705	0.37182	D	0.903531	D	0.89917	1.0	D	0.79784	0.993	D	0.92192	0.5760	10	0.66056	D	0.02	.	10.3907	0.44166	0.0:0.6774:0.3226:0.0	.	239	P49862	KLK7_HUMAN	Y	239;239;126	ENSP00000375683:C239Y;ENSP00000337540:C126Y	ENSP00000304791:C239Y	C	-	2	0	KLK7	56172650	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.117000	0.31234	2.432000	0.82394	0.448000	0.29417	TGC		PASS	0.507	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		6	55	6	55	---	---	---	---
FPR3	2359	broad.mit.edu	37	19	52327252	52327252	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:52327252C>T	ENST00000339223.4	+	2	430	c.251C>T	c.(250-252)tCa>tTa	p.S84L	FPR3_ENST00000595991.1_Missense_Mutation_p.S84L	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	84					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.S84L(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CGAATGGTCTCAGTCGCCATG	0.468																																						uc002pxt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(250-252)TCA>TTA		formyl peptide receptor-like 2							144.0	112.0	123.0					19																	52327252		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327252C>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.251C>T	19.37:g.52327252C>T	ENSP00000341821:p.Ser84Leu						p.S84L	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	435	+			84			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.251C>T	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	4.695	0.129277	0.08981	.	.	ENSG00000187474	ENST00000339223	T	0.70986	-0.53	2.19	0.936	0.19488	GPCR, rhodopsin-like superfamily (1);	0.964508	0.08497	N	0.937074	T	0.70780	0.3263	M	0.70275	2.135	0.09310	N	1	P	0.44281	0.831	P	0.50537	0.643	T	0.58940	-0.7547	10	0.14252	T	0.57	.	4.0133	0.09632	0.2637:0.4771:0.2591:0.0	.	84	P25089	FPR3_HUMAN	L	84	ENSP00000341821:S84L	ENSP00000341821:S84L	S	+	2	0	FPR3	57019064	0.610000	0.26983	0.116000	0.21606	0.019000	0.09904	2.483000	0.45233	1.223000	0.43536	0.467000	0.42956	TCA		PASS	0.468	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		6	50	6	50	---	---	---	---
FPR3	2359	broad.mit.edu	37	19	52327257	52327257	+	Missense_Mutation	SNP	G	G	T	rs143250626		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:52327257G>T	ENST00000339223.4	+	2	435	c.256G>T	c.(256-258)Gcc>Tcc	p.A86S	FPR3_ENST00000595991.1_Missense_Mutation_p.A86S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	86					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.A86S(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGTCTCAGTCGCCATGAGAGA	0.453																																						uc002pxt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(256-258)GCC>TCC		formyl peptide receptor-like 2							137.0	108.0	117.0					19																	52327257		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327257G>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.256G>T	19.37:g.52327257G>T	ENSP00000341821:p.Ala86Ser						p.A86S	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	440	+			86			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.256G>T	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.851042	0.32699	.	.	ENSG00000187474	ENST00000339223	T	0.37235	1.21	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.178983	0.37577	N	0.002036	T	0.57344	0.2047	M	0.86805	2.84	0.29625	N	0.84593	D	0.63046	0.992	P	0.61658	0.892	T	0.58831	-0.7567	10	0.87932	D	0	.	10.0301	0.42096	0.0:0.0:1.0:0.0	.	86	P25089	FPR3_HUMAN	S	86	ENSP00000341821:A86S	ENSP00000341821:A86S	A	+	1	0	FPR3	57019069	0.334000	0.24739	0.040000	0.18447	0.012000	0.07955	2.228000	0.42981	1.223000	0.43536	0.467000	0.42956	GCC		PASS	0.453	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		16	36	16	36	---	---	---	---
ZNF577	84765	broad.mit.edu	37	19	52376052	52376052	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:52376052G>T	ENST00000301399.5	-	7	1556	c.1191C>A	c.(1189-1191)tcC>tcA	p.S397S	ZNF577_ENST00000420592.1_Silent_p.S338S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.S338S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S390S(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCATGTATAAGGAGGTATGAC	0.438																																						uc010yde.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1189-1191)TCC>TCA		zinc finger protein 577 isoform a							115.0	122.0	120.0					19																	52376052		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376052G>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1191C>A	19.37:g.52376052G>T						ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.S338S|ZNF577_uc002pxv.2_Silent_p.S390S|ZNF577_uc002pxw.2_Silent_p.S331S	p.S397S	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	1582	-		all_neural(266;0.0602)	397					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.1191C>A	CCDS12842.2																																																																																				PASS	0.438	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		8	120	8	120	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55285042	55285042	+	Intron	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:55285042C>T	ENST00000538269.1	+	2	61				CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Nonsense_Mutation_p.Q110*|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Nonsense_Mutation_p.Q110*			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.Q110*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTCCCCCTATCAGGTGTCAGC	0.527																																						uc002qhb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(328-330)CAG>TAG		killer cell immunoglobulin-like receptor, two							271.0	242.0	252.0					19																	55285042		2177	4210	6387	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55285042C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-43947C>T	19.37:g.55285042C>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Nonsense_Mutation_p.Q110*	p.Q110*	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	366	+			110			Extracellular (Potential).		O43473|Q14946|Q16541	Nonsense_Mutation	SNP	ENST00000538269.1	37	c.328C>T		.	.	.	.	.	.	.	.	.	.	c	10.27	1.302639	0.23736	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.9954	0.36050	0.0:0.697:0.303:0.0	.	.	.	.	X	110	.	ENSP00000291633:Q110X	Q	+	1	0	KIR2DL1	59976854	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.574000	0.02133	-1.516000	0.01782	-2.300000	0.00261	CAG		PASS	0.527	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		41	56	41	56	---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57723831	57723831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:57723831G>T	ENST00000263095.6	+	4	1780	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.E456*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E456K(1)|p.E456*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAAGCCTTTCGAGTGCAAAGA	0.517																																						uc002qob.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1366-1368)GAG>TAG		zinc finger protein 264							55.0	57.0	56.0					19																	57723831		2203	4300	6503	SO:0001587	stop_gained	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723831G>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1366G>T	19.37:g.57723831G>T	ENSP00000263095:p.Glu456*						p.E456*	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1779	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	456			C2H2-type 10.		A8K8Y9|Q9P1V0	Nonsense_Mutation	SNP	ENST00000263095.6	37	c.1366G>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	37	6.217594	0.97385	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	2.35	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	4.3259	0.11039	0.1349:0.0:0.6422:0.2228	.	.	.	.	X	456	.	ENSP00000263095:E456X	E	+	1	0	ZNF264	62415643	0.000000	0.05858	0.807000	0.32361	0.772000	0.43724	-1.148000	0.03185	0.563000	0.29222	0.491000	0.48974	GAG		PASS	0.517	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			5	32	5	32	---	---	---	---
ZNF551	90233	broad.mit.edu	37	19	58198327	58198327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr19:58198327C>A	ENST00000282296.5	+	3	869	c.684C>A	c.(682-684)taC>taA	p.Y228*	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Nonsense_Mutation_p.Y212*			Q7Z340	ZN551_HUMAN	zinc finger protein 551	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y212*(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGGGTGAATACAGAAAAGCTT	0.443																																						uc002qpw.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(634-636)TAC>TAA		zinc finger protein 551							75.0	76.0	76.0					19																	58198327		2203	4300	6503	SO:0001587	stop_gained	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198327C>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.684C>A	19.37:g.58198327C>A	ENSP00000282296:p.Tyr228*					ZNF551_uc002qpv.3_Nonsense_Mutation_p.Y155*|ZNF776_uc002qpx.2_Intron	p.Y212*	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	859	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	228					B4DU22|P17034|Q8N246|Q9BRY1	Nonsense_Mutation	SNP	ENST00000282296.5	37	c.636C>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247620	0.39697	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.59	-5.18	0.02840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	5.8717	0.18807	0.0:0.347:0.2416:0.4114	.	.	.	.	X	228;212;122	.	ENSP00000282296:Y212X	Y	+	3	2	ZNF551	62890139	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.888000	0.01113	-0.254000	0.11334	TAC		PASS	0.443	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		8	51	8	51	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1108149	1108149	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:1108149C>A	ENST00000335877.6	+	3	539	c.363C>A	c.(361-363)caC>caA	p.H121Q	PSMF1_ENST00000438768.2_Missense_Mutation_p.H121Q|PSMF1_ENST00000381898.4_Missense_Mutation_p.H33Q|PSMF1_ENST00000246015.4_Missense_Mutation_p.H121Q|PSMF1_ENST00000333082.3_Missense_Mutation_p.H121Q	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	121	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.H121Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTGACTTCCACAGGTACTTCT	0.428																																						uc002wel.3																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CAC>CAA		proteasome inhibitor subunit 1							98.0	99.0	99.0					20																	1108149		2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1108149C>A	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.363C>A	20.37:g.1108149C>A	ENSP00000338039:p.His121Gln					PSMF1_uc010zpo.1_Missense_Mutation_p.H33Q|PSMF1_uc002wem.3_Missense_Mutation_p.H121Q|PSMF1_uc010zpp.1_Missense_Mutation_p.H121Q|PSMF1_uc002wen.3_Missense_Mutation_p.H121Q	p.H121Q	NM_178578	NP_848693	Q92530	PSMF1_HUMAN			4	531	+			121					A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.363C>A	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921724	0.52653	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T;T	0.44083	1.02;1.02;1.02;1.02;1.02;0.93	5.64	5.64	0.86602	.	0.239499	0.42420	D	0.000718	T	0.44767	0.1309	L	0.51422	1.61	0.49687	D	0.999811	P;P;P;P	0.51791	0.948;0.739;0.708;0.755	P;B;B;B	0.48598	0.583;0.354;0.243;0.309	T	0.11251	-1.0595	10	0.13853	T	0.58	-12.359	16.7314	0.85436	0.0:1.0:0.0:0.0	.	121;33;121;121	E7ER20;F5H4Z3;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	Q	121;33;121;33;121;121;121	ENSP00000327704:H121Q;ENSP00000371323:H33Q;ENSP00000371324:H121Q;ENSP00000246015:H121Q;ENSP00000338039:H121Q;ENSP00000401404:H121Q	ENSP00000246015:H121Q	H	+	3	2	PSMF1	1056149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.937000	0.99478	0.650000	0.86243	CAC		PASS	0.428	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		7	123	7	123	---	---	---	---
IDH3B	3420	broad.mit.edu	37	20	2640344	2640344	+	Splice_Site	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:2640344C>T	ENST00000380843.4	-	10	1041		c.e10+1		IDH3B_ENST00000488299.1_Splice_Site|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000380851.5_Splice_Site	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.?(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CCATGACCTACTTAAGATGCC	0.592																																						uc002wgp.2																			1	Unknown(1)		lung(1)		0						c.e10+1		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						148.0	146.0	147.0					20																	2640344		2203	4300	6503	SO:0001630	splice_region_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640344C>T		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1010+1G>A	20.37:g.2640344C>T						IDH3B_uc002wgq.2_Splice_Site_p.N337_splice|IDH3B_uc002wgr.2_Splice_Site_p.N185_splice	p.N337_splice	NM_006899	NP_008830	O43837	IDH3B_HUMAN			10	1019	-								B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Splice_Site	SNP	ENST00000380843.4	37	c.1010_splice	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932404	0.34096	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000435594	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1004	0.72269	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IDH3B	2588344	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	5.408000	0.66368	2.430000	0.82344	0.455000	0.32223	.		PASS	0.592	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1		Intron	20	94	20	94	---	---	---	---
VPS16	64601	broad.mit.edu	37	20	2840410	2840410	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:2840410C>A	ENST00000380445.3	+	2	171	c.99C>A	c.(97-99)ctC>ctA	p.L33L	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Silent_p.L33L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	33					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.L33L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGGAGGAACTCAGGGATTGCC	0.562																																						uc002whe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(97-99)CTC>CTA		vacuolar protein sorting 16 isoform 1							184.0	189.0	188.0					20																	2840410		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2840410C>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.99C>A	20.37:g.2840410C>A						VPS16_uc002whf.2_Silent_p.L33L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	p.L33L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			2	147	+			33					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.99C>A	CCDS13036.1																																																																																				PASS	0.562	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		7	98	7	98	---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19956212	19956212	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:19956212G>T	ENST00000255006.6	+	8	1839	c.1690G>T	c.(1690-1692)Gtc>Ttc	p.V564F	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	515					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.V515F(1)|p.V564F(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAAGCGGATGGTCCGCAGGAT	0.592																																						uc002wro.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)	5						c.(1543-1545)GTC>TTC		Ras and Rab interactor 2							84.0	91.0	89.0					20																	19956212		2026	4184	6210	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956212G>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1690G>T	20.37:g.19956212G>T	ENSP00000255006:p.Val564Phe					RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.V309F	p.V515F	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			7	1579	+			515					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1543G>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	9.280	1.047865	0.19827	.	.	ENSG00000132669	ENST00000255006	T	0.09911	2.93	5.94	3.82	0.43975	.	0.395082	0.28135	N	0.016475	T	0.08313	0.0207	L	0.47716	1.5	0.80722	D	1	P	0.40398	0.716	B	0.30572	0.117	T	0.26503	-1.0101	9	.	.	.	-17.2666	9.8615	0.41118	0.238:0.0:0.762:0.0	.	515	Q8WYP3	RIN2_HUMAN	F	564	ENSP00000255006:V564F	.	V	+	1	0	RIN2	19904212	1.000000	0.71417	0.999000	0.59377	0.490000	0.33462	1.527000	0.35975	1.531000	0.49152	0.655000	0.94253	GTC		PASS	0.592	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			13	50	13	50	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20017981	20017981	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:20017981G>T	ENST00000377340.2	-	14	2396	c.2365C>A	c.(2365-2367)Cag>Aag	p.Q789K	CRNKL1_ENST00000536226.1_Missense_Mutation_p.Q628K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.Q777K|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	789					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q789K(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCATCAGTCTGGACCTTTCTT	0.438																																						uc002wrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2365-2367)CAG>AAG		crooked neck-like 1 protein							233.0	229.0	230.0					20																	20017981		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20017981G>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2365C>A	20.37:g.20017981G>T	ENSP00000366557:p.Gln789Lys						p.Q789K	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			14	2397	-			789			HAT 16.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.2365C>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854901	0.17106	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.42513	0.97;0.97;0.97	4.93	4.93	0.64822	.	0.286952	0.39909	N	0.001235	T	0.23965	0.0580	N	0.08118	0	0.50813	D	0.999891	B	0.15473	0.013	B	0.17098	0.017	T	0.10314	-1.0635	10	0.06891	T	0.86	-9.0835	18.3158	0.90220	0.0:0.0:1.0:0.0	.	789	Q9BZJ0	CRNL1_HUMAN	K	777;789;628	ENSP00000366544:Q777K;ENSP00000366557:Q789K;ENSP00000440733:Q628K	ENSP00000366544:Q777K	Q	-	1	0	CRNKL1	19965981	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.784000	0.68990	2.544000	0.85801	0.491000	0.48974	CAG		PASS	0.438	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			8	151	8	151	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24523790	24523790	+	Silent	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:24523790T>C	ENST00000376862.3	+	2	690	c.57T>C	c.(55-57)gcT>gcC	p.A19A		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	19					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.A19A(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TCAGTGATGCTGGCAAGAGGA	0.537																																						uc002wtw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)GCT>GCC		transmembrane protein 90B							88.0	87.0	87.0					20																	24523790		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523790T>C	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.57T>C	20.37:g.24523790T>C							p.A19A	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	690	+			19			Cytoplasmic (Potential).		Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.57T>C	CCDS13164.1																																																																																				PASS	0.537	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		11	48	11	48	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657102	25657102	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:25657102G>T	ENST00000376436.1	-	4	1361	c.822C>A	c.(820-822)acC>acA	p.T274T	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Silent_p.T274T|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Silent_p.T242T|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T274T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGACTTACTGGTATAGCCTC	0.517																																						uc002wva.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)ACC>ACA		zinc finger protein 337							173.0	159.0	164.0					20																	25657102		2203	4300	6503	SO:0001819	synonymous_variant	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25657102G>T		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.822C>A	20.37:g.25657102G>T						uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.T242T|ZNF337_uc002wvb.2_Silent_p.T274T|ZNF337_uc002wvc.2_Silent_p.T274T	p.T274T	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1344	-			274			C2H2-type 4.		B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.822C>A	CCDS13174.1																																																																																				PASS	0.517	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	116	7	116	---	---	---	---
TPX2	22974	broad.mit.edu	37	20	30385255	30385255	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:30385255C>A	ENST00000300403.6	+	16	2410	c.1882C>A	c.(1882-1884)Cgt>Agt	p.R628S	TPX2_ENST00000340513.4_Missense_Mutation_p.R664S	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	628					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.R628S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTTCAAGGCTCGTCCAAACAC	0.448																																						uc002wwp.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1882-1884)CGT>AGT		TPX2, microtubule-associated protein homolog							188.0	191.0	190.0					20																	30385255		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30385255C>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1882C>A	20.37:g.30385255C>A	ENSP00000300403:p.Arg628Ser					TPX2_uc010gdv.1_Missense_Mutation_p.R664S	p.R628S	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		16	2580	+			628					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1882C>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072628	0.55646	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32753	1.44	5.93	4.0	0.46444	.	0.108155	0.56097	D	0.000024	T	0.31389	0.0795	M	0.80746	2.51	0.49483	D	0.999791	P;B	0.41524	0.753;0.434	B;B	0.36378	0.195;0.223	T	0.16660	-1.0395	10	0.72032	D	0.01	-3.8765	6.096	0.20021	0.1404:0.6534:0.1352:0.0709	.	664;628	Q96RR5;Q9ULW0	.;TPX2_HUMAN	S	628;664	ENSP00000341145:R664S	ENSP00000300403:R628S	R	+	1	0	TPX2	29848916	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.831000	0.39141	0.849000	0.35215	0.655000	0.94253	CGT		PASS	0.448	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			6	174	6	174	---	---	---	---
EDEM2	55741	broad.mit.edu	37	20	33703284	33703284	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:33703284G>T	ENST00000374492.3	-	11	1794	c.1689C>A	c.(1687-1689)ttC>ttA	p.F563L	EDEM2_ENST00000541621.1_Missense_Mutation_p.F342L|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000374491.3_Missense_Mutation_p.F526L|EDEM2_ENST00000542871.1_Missense_Mutation_p.F287L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	563					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F563L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACTTGGAGGTGAAGGGCTGAC	0.448																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1687-1689)TTC>TTA		ER degradation enhancer, mannosidase alpha-like							173.0	174.0	174.0					20																	33703284		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33703284G>T	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1689C>A	20.37:g.33703284G>T	ENSP00000363616:p.Phe563Leu					EDEM2_uc010zus.1_Missense_Mutation_p.F342L|EDEM2_uc002xbq.2_Missense_Mutation_p.F526L|EDEM2_uc010zut.1_Missense_Mutation_p.F522L|EDEM2_uc002xbp.2_Missense_Mutation_p.F411L|EDEM2_uc002xbn.2_Missense_Mutation_p.F411L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.F287L	p.F563L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1789	-			563					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.1689C>A	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847324	0.71603	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871	T;T;T;T	0.60672	0.17;0.18;1.65;1.58	5.24	0.465	0.16711	.	0.090297	0.85682	D	0.000000	T	0.55768	0.1941	L	0.34521	1.04	0.80722	D	1	D;P;P	0.59767	0.986;0.759;0.941	P;B;B	0.56163	0.793;0.301;0.426	T	0.55496	-0.8132	10	0.72032	D	0.01	-14.4872	10.6883	0.45856	0.458:0.0:0.542:0.0	.	342;526;563	G3V1Q0;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	L	526;563;342;287	ENSP00000363615:F526L;ENSP00000363616:F563L;ENSP00000443528:F342L;ENSP00000441642:F287L	ENSP00000363615:F526L	F	-	3	2	EDEM2	33166945	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.304000	0.43655	-0.080000	0.12685	0.561000	0.74099	TTC		PASS	0.448	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		8	123	8	123	---	---	---	---
UQCC1	55245	broad.mit.edu	37	20	33999756	33999756	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:33999756A>G	ENST00000374385.5	-	1	188	c.11T>C	c.(10-12)cTg>cCg	p.L4P	UQCC1_ENST00000542501.1_Missense_Mutation_p.L4P|UQCC1_ENST00000397554.1_Missense_Mutation_p.L4P|UQCC1_ENST00000359226.2_Missense_Mutation_p.L4P|UQCC1_ENST00000374377.5_5'UTR|UQCC1_ENST00000374380.2_Missense_Mutation_p.L4P|UQCC1_ENST00000540457.1_5'UTR|UQCC1_ENST00000407996.2_Missense_Mutation_p.L4P|UQCC1_ENST00000349714.5_Missense_Mutation_p.L4P|UQCC1_ENST00000374384.2_Missense_Mutation_p.L4P|UQCC1_ENST00000491125.1_5'UTR	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	4						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)		p.L4P(1)									GACTCGCACCAGCAACGCCAT	0.542																																						uc002xcd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(10-12)CTG>CCG		basic FGF-repressed Zic binding protein isoform							204.0	170.0	181.0					20																	33999756		2203	4300	6503	SO:0001583	missense	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33999756A>G	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.11T>C	20.37:g.33999756A>G	ENSP00000363506:p.Leu4Pro					UQCC_uc010zuz.1_5'UTR|UQCC_uc010zva.1_Missense_Mutation_p.L4P|UQCC_uc002xce.2_Missense_Mutation_p.L4P|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.L4P|UQCC_uc010zvb.1_Missense_Mutation_p.L4P|UQCC_uc002xcf.2_5'UTR|GDF5_uc010gfc.1_Intron|UQCC_uc010gfd.1_5'UTR	p.L4P	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	78	-			4					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.11T>C	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893628	0.72639	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000407996;ENST00000424405;ENST00000542501;ENST00000438533;ENST00000397554	D;D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	4.83	4.83	0.62350	.	0.111848	0.34906	N	0.003583	D	0.90369	0.6986	M	0.66939	2.045	0.54753	D	0.999984	D;D;P;D;P	0.76494	0.998;0.999;0.924;0.986;0.94	D;D;B;P;P	0.85130	0.995;0.997;0.343;0.701;0.545	D	0.90983	0.4829	10	0.87932	D	0	.	10.9473	0.47308	1.0:0.0:0.0:0.0	.	4;4;4;4;4	B1AKV5;B7Z7J8;B7ZBG3;B7ZBG4;Q9NVA1	.;.;.;.;UQCC_HUMAN	P	4	ENSP00000335364:L4P;ENSP00000352161:L4P;ENSP00000363505:L4P;ENSP00000363501:L4P;ENSP00000363506:L4P;ENSP00000386064:L4P;ENSP00000399713:L4P;ENSP00000445059:L4P;ENSP00000398531:L4P;ENSP00000380686:L4P	ENSP00000335364:L4P	L	-	2	0	UQCC	33463170	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.863000	0.56016	2.142000	0.66516	0.533000	0.62120	CTG		PASS	0.542	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		16	63	16	63	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39788562	39788562	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:39788562G>T	ENST00000373271.1	+	3	828	c.423G>T	c.(421-423)atG>atT	p.M141I	PLCG1_ENST00000244007.3_Missense_Mutation_p.M141I|PLCG1_ENST00000373272.2_Missense_Mutation_p.M141I	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	141	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.M141I(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTTGGCTGATGGAGGATACAT	0.547																																						uc002xjp.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|skin(2)	8						c.(421-423)ATG>ATT		phospholipase C, gamma 1 isoform b							114.0	106.0	109.0					20																	39788562		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39788562G>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.423G>T	20.37:g.39788562G>T	ENSP00000362368:p.Met141Ile					PLCG1_uc002xjo.1_Missense_Mutation_p.M141I	p.M141I	NM_182811	NP_877963	P19174	PLCG1_HUMAN			3	544	+		Myeloproliferative disorder(115;0.00878)	141			PH 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.423G>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748715	0.30955	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.59906	0.23;0.23;0.23	5.18	4.23	0.50019	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.201671	0.53938	D	0.000059	T	0.39358	0.1075	L	0.28344	0.845	0.37253	D	0.906659	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32295	-0.9912	10	0.33141	T	0.24	.	6.0067	0.19551	0.1567:0.0:0.6904:0.153	.	141;141	P19174;A2A284	PLCG1_HUMAN;.	I	141	ENSP00000244007:M141I;ENSP00000362368:M141I;ENSP00000362369:M141I	ENSP00000244007:M141I	M	+	3	0	PLCG1	39221976	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.156000	0.64905	1.184000	0.42957	0.655000	0.94253	ATG		PASS	0.547	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		6	59	6	59	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40733286	40733286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:40733286C>A	ENST00000373187.1	-	25	3462	c.3463G>T	c.(3463-3465)Gag>Tag	p.E1155*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.E1145*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.E1154*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.E1165*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.E1158*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.E1174*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.E1164*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1155					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E1177*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAACGGAACTCACACACAGGG	0.512																																						uc002xkg.2																			1	Substitution - Nonsense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(3463-3465)GAG>TAG		protein tyrosine phosphatase, receptor type, T							120.0	122.0	121.0					20																	40733286		2029	4199	6228	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40733286C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3463G>T	20.37:g.40733286C>A	ENSP00000362283:p.Glu1155*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.E1174*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.E358*	p.E1155*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			25	3647	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1155			Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.3463G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	44	10.648986	0.99444	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.08	5.08	0.68730	.	0.052471	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4815	0.90813	0.0:1.0:0.0:0.0	.	.	.	.	X	1154;1155;1158;1164;1177;1165;1145	.	ENSP00000348408:E1164X	E	-	1	0	PTPRT	40166700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.242000	0.51384	2.359000	0.80004	0.655000	0.94253	GAG		PASS	0.512	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			6	75	6	75	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44641162	44641162	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:44641162G>T	ENST00000372330.3	+	8	1290	c.1271G>T	c.(1270-1272)cGc>cTc	p.R424L	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	424					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R424L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTATGTACCGCTTCACTGAG	0.617																																						uc002xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1270-1272)CGC>CTC		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						94.0	82.0	86.0					20																	44641162		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641162G>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1271G>T	20.37:g.44641162G>T	ENSP00000361405:p.Arg424Leu						p.R424L	NM_004994	NP_004985	P14780	MMP9_HUMAN			8	1290	+		Myeloproliferative disorder(115;0.0122)	424					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1271G>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656334	0.67586	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22134	1.97	4.99	4.03	0.46877	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.424502	0.30556	N	0.009363	T	0.20333	0.0489	L	0.39898	1.24	0.27219	N	0.959713	B	0.29341	0.242	B	0.33799	0.17	T	0.12837	-1.0532	10	0.42905	T	0.14	.	12.9514	0.58403	0.0791:0.0:0.9209:0.0	.	424	P14780	MMP9_HUMAN	L	424;69	ENSP00000361405:R424L	ENSP00000361405:R424L	R	+	2	0	MMP9	44074569	0.957000	0.32711	0.983000	0.44433	0.868000	0.49771	1.389000	0.34453	1.312000	0.45043	0.561000	0.74099	CGC		PASS	0.617	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			12	37	12	37	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46268381	46268381	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:46268381C>A	ENST00000371998.3	+	15	2959	c.2768C>A	c.(2767-2769)cCa>cAa	p.P923Q	NCOA3_ENST00000372004.3_Missense_Mutation_p.P923Q|NCOA3_ENST00000341724.6_Missense_Mutation_p.P853Q|NCOA3_ENST00000371997.3_Missense_Mutation_p.P918Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	923					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P923Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGGGCTTACCAAACTCAAAG	0.468																																						uc002xtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2767-2769)CCA>CAA		nuclear receptor coactivator 3 isoform a							123.0	131.0	128.0					20																	46268381		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46268381C>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2768C>A	20.37:g.46268381C>A	ENSP00000361066:p.Pro923Gln					NCOA3_uc010ght.1_Missense_Mutation_p.P918Q|NCOA3_uc002xtl.2_Missense_Mutation_p.P923Q|NCOA3_uc002xtm.2_Missense_Mutation_p.P923Q|NCOA3_uc002xtn.2_Missense_Mutation_p.P923Q|NCOA3_uc010zyc.1_Missense_Mutation_p.P718Q	p.P923Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			15	2973	+			923					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2768C>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	7.235	0.600120	0.13939	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02395	4.31;4.68;4.68;4.49	5.89	4.95	0.65309	.	0.433963	0.23698	N	0.045444	T	0.02455	0.0075	N	0.19112	0.55	0.28937	N	0.89121	B;B;B;B;B;B	0.10296	0.0;0.003;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.15052	0.003;0.006;0.005;0.005;0.012;0.005	T	0.36553	-0.9743	10	0.12766	T	0.61	-4.5862	13.7587	0.62952	0.3954:0.6046:0.0:0.0	.	923;918;927;923;923;923	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	Q	923;853;923;923;918	ENSP00000342123:P853Q;ENSP00000361073:P923Q;ENSP00000361066:P923Q;ENSP00000361065:P918Q	ENSP00000345671:P923Q	P	+	2	0	NCOA3	45701788	0.041000	0.20044	0.323000	0.25347	0.581000	0.36288	0.824000	0.27379	1.472000	0.48140	0.557000	0.71058	CCA		PASS	0.468	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		9	129	9	129	---	---	---	---
STAU1	6780	broad.mit.edu	37	20	47782640	47782640	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:47782640C>A	ENST00000371856.2	-	3	509	c.99G>T	c.(97-99)atG>atT	p.M33I	STAU1_ENST00000360426.4_Intron|STAU1_ENST00000371802.1_Intron|STAU1_ENST00000371828.3_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000371792.1_Intron|STAU1_ENST00000340954.7_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	33					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.M33I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AAGGAATACTCATCAAAGGCT	0.463																																						uc002xud.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(1)	5						c.(97-99)ATG>ATT		staufen isoform b							209.0	206.0	207.0					20																	47782640		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47782640C>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.99G>T	20.37:g.47782640C>A	ENSP00000360922:p.Met33Ile					STAU1_uc002xua.2_Intron|STAU1_uc002xub.2_Intron|STAU1_uc002xuc.2_Intron|STAU1_uc002xue.2_Intron|STAU1_uc002xuf.2_Intron|STAU1_uc002xug.2_Missense_Mutation_p.M33I	p.M33I	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		3	510	-			33					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.99G>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613076	0.46631	.	.	ENSG00000124214	ENST00000371856	T	0.31247	1.5	5.49	5.49	0.81192	.	0.250401	0.45867	D	0.000326	T	0.17874	0.0429	N	0.08118	0	0.80722	D	1	B	0.25105	0.118	B	0.21151	0.033	T	0.06427	-1.0827	10	0.38643	T	0.18	-14.8968	14.8772	0.70504	0.0:1.0:0.0:0.0	.	33	O95793	STAU1_HUMAN	I	33	ENSP00000360922:M33I	ENSP00000360922:M33I	M	-	3	0	STAU1	47216047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.333000	0.43912	2.582000	0.87167	0.655000	0.94253	ATG		PASS	0.463	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		7	116	7	116	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645048	52645048	+	Missense_Mutation	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:52645048C>G	ENST00000395961.3	-	4	772	c.606G>C	c.(604-606)aaG>aaC	p.K202N	BCAS1_ENST00000411563.1_Missense_Mutation_p.K105N|BCAS1_ENST00000371435.2_Missense_Mutation_p.K202N|BCAS1_ENST00000371440.3_Missense_Mutation_p.K202N	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	202						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.K202N(2)		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)			TTTCCTGTCCCTTGTCCAGCT	0.552																																						uc002xws.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(604-606)AAG>AAC		breast carcinoma amplified sequence 1							204.0	193.0	197.0					20																	52645048		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645048C>G	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.606G>C	20.37:g.52645048C>G	ENSP00000379290:p.Lys202Asn					BCAS1_uc010zzb.1_Missense_Mutation_p.K105N|BCAS1_uc010gim.2_Missense_Mutation_p.K105N|BCAS1_uc002xwt.2_Missense_Mutation_p.K202N|BCAS1_uc010gil.1_Missense_Mutation_p.K202N|BCAS1_uc010zzc.1_Missense_Mutation_p.K105N	p.K202N	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	944	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		202					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.606G>C	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238294	0.39598	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.11	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.25044	0.0608	M	0.66939	2.045	0.41861	D	0.990221	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.998;0.998	T	0.00945	-1.1505	10	0.66056	D	0.02	-19.3008	11.3847	0.49778	0.0:0.9128:0.0:0.0872	.	105;202;202;202;202;202	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	N	64;202;80;202;202;105	ENSP00000396361:K64N;ENSP00000360495:K202N;ENSP00000379290:K202N;ENSP00000360490:K202N;ENSP00000397442:K105N	ENSP00000360490:K202N	K	-	3	2	BCAS1	52078455	0.997000	0.39634	0.999000	0.59377	0.059000	0.15707	0.912000	0.28597	1.243000	0.43853	0.563000	0.77884	AAG		PASS	0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		36	99	36	99	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61511697	61511697	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr20:61511697C>T	ENST00000266070.4	-	16	5936	c.5611G>A	c.(5611-5613)Gaa>Aaa	p.E1871K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1871K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1871	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E1871K(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGTCCCTTCAAACTGGGCG	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(5611-5613)GAA>AAA		death inducer-obliterator 1 isoform c							41.0	45.0	44.0					20																	61511697		2201	4296	6497	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511697C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5611G>A	20.37:g.61511697C>T	ENSP00000266070:p.Glu1871Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E1871K	p.E1871K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5875	-	Breast(26;5.68e-08)		1871			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5611G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463745	0.63513	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.11277	2.79;2.79	4.97	4.97	0.65823	.	0.000000	0.44097	D	0.000497	T	0.20861	0.0502	M	0.63428	1.95	0.80722	D	1	P	0.46987	0.888	P	0.47102	0.537	T	0.01087	-1.1456	10	0.59425	D	0.04	-19.3234	18.217	0.89889	0.0:1.0:0.0:0.0	.	1871	Q9BTC0	DIDO1_HUMAN	K	1871	ENSP00000266070:E1871K;ENSP00000378752:E1871K	ENSP00000266070:E1871K	E	-	1	0	DIDO1	60982142	1.000000	0.71417	0.088000	0.20740	0.087000	0.18053	4.372000	0.59530	2.270000	0.75569	0.561000	0.74099	GAA		PASS	0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	25	5	25	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19716354	19716354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:19716354C>A	ENST00000284885.3	-	11	1228	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	399	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G399*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTCCTGGTCCAGTTGGGGTA	0.403																																						uc002ykw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1195-1197)GGA>TGA		enterokinase precursor							86.0	89.0	88.0					21																	19716354		2203	4300	6503	SO:0001587	stop_gained	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19716354C>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1195G>T	21.37:g.19716354C>A	ENSP00000284885:p.Gly399*						p.G399*	NM_002772	NP_002763	P98073	ENTK_HUMAN			11	1226	-			399			Extracellular (Potential).|MAM.		Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	c.1195G>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	37	6.114368	0.97296	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.27	3.41	0.39046	.	0.140180	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4582	0.16602	0.1445:0.6378:0.1398:0.0779	.	.	.	.	X	399	.	.	G	-	1	0	TMPRSS15	18638225	0.091000	0.21658	0.985000	0.45067	0.806000	0.45545	1.431000	0.34925	0.691000	0.31592	0.460000	0.39030	GGA		PASS	0.403	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		13	53	13	53	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30304965	30304965	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:30304965G>T	ENST00000361371.5	-	28	4976	c.4897C>A	c.(4897-4899)Cga>Aga	p.R1633R	LTN1_ENST00000389194.2_Silent_p.R1679R			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1633					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R1633R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTACCTCTCGAGTAGTAGCT	0.338																																						uc002ymr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(5035-5037)CGA>AGA		zinc finger protein 294							98.0	104.0	102.0					21																	30304965		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30304965G>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4897C>A	21.37:g.30304965G>T							p.R1679R	NM_015565	NP_056380	O94822	LTN1_HUMAN			28	5048	-			1633					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.5035C>A																																																																																					PASS	0.338	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		7	118	7	118	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33068523	33068523	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:33068523C>A	ENST00000286835.7	-	9	1353	c.971G>T	c.(970-972)gGa>gTa	p.G324V	SCAF4_ENST00000434667.3_Missense_Mutation_p.G309V|SCAF4_ENST00000399804.1_Missense_Mutation_p.G324V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	324						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G324V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATGCCATCTCCAGGAAAGCC	0.423																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GGA>GTA		splicing factor, arginine/serine-rich 15 isoform							173.0	164.0	167.0					21																	33068523		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33068523C>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.971G>T	21.37:g.33068523C>A	ENSP00000286835:p.Gly324Val					SFRS15_uc002ype.2_Missense_Mutation_p.G324V|SFRS15_uc010glu.2_Missense_Mutation_p.G309V|SFRS15_uc002ypf.1_5'UTR	p.G324V	NM_020706	NP_065757	O95104	SFR15_HUMAN			9	1397	-			324					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.971G>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744443	0.49151	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.46063	0.89;0.88;0.88	5.71	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.36580	0.0972	L	0.51422	1.61	0.47547	D	0.999455	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.16289	0.012;0.015;0.007	T	0.14008	-1.0488	10	0.30854	T	0.27	-13.9172	11.8063	0.52156	0.1384:0.7285:0.1331:0.0	.	309;324;324	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	V	309;324;324	ENSP00000402377:G309V;ENSP00000286835:G324V;ENSP00000382703:G324V	ENSP00000286835:G324V	G	-	2	0	SCAF4	31990394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.743000	0.38258	1.518000	0.48934	0.650000	0.86243	GGA		PASS	0.423	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		7	106	7	106	---	---	---	---
PAXBP1	94104	broad.mit.edu	37	21	34132155	34132155	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:34132155A>C	ENST00000331923.4	-	6	1315	c.1126T>G	c.(1126-1128)Ttc>Gtc	p.F376V	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.F376V	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	376					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F376V(1)									GGAGTTTTGAAAGGGACTGTA	0.413																																						uc002yqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1126-1128)TTC>GTC		GC-rich sequence DNA-binding factor candidate							182.0	181.0	181.0					21																	34132155		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34132155A>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1126T>G	21.37:g.34132155A>C	ENSP00000328992:p.Phe376Val					GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F376V|GCFC1_uc002yqr.2_Missense_Mutation_p.F376V	p.F376V	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			6	1316	-			376					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1126T>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094075	0.56075	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.31247	1.92;1.5	5.8	5.8	0.92144	.	0.103516	0.64402	D	0.000001	T	0.26557	0.0649	L	0.46157	1.445	0.58432	D	0.999999	B;P	0.35383	0.119;0.498	B;B	0.30401	0.067;0.115	T	0.04737	-1.0930	10	0.17369	T	0.5	-14.9915	15.8075	0.78527	1.0:0.0:0.0:0.0	.	376;376	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	V	376	ENSP00000328992:F376V;ENSP00000290178:F376V	ENSP00000290178:F376V	F	-	1	0	GCFC1	33054026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.216000	0.71823	0.460000	0.39030	TTC		PASS	0.413	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		13	70	13	70	---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37775112	37775112	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:37775112G>T	ENST00000314103.5	+	8	871	c.720G>T	c.(718-720)ctG>ctT	p.L240L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	240					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.L240L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TCCGTAGACTGAGTTTCACTC	0.438																																						uc002yvj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(718-720)CTG>CTT		chromatin assembly factor 1 subunit B							224.0	209.0	214.0					21																	37775112		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37775112G>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.720G>T	21.37:g.37775112G>T							p.L240L	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			8	858	+			240			WD 5.		Q99548	Silent	SNP	ENST00000314103.5	37	c.720G>T	CCDS13644.1																																																																																				PASS	0.438	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		10	186	10	186	---	---	---	---
PCP4	5121	broad.mit.edu	37	21	41301006	41301006	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:41301006C>A	ENST00000328619.5	+	3	344	c.159C>A	c.(157-159)ttC>ttA	p.F53L	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	53	IQ.				central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.F53L(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TCAGAAAATTCCAGAAGAAGA	0.448																																						uc002yyp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(157-159)TTC>TTA		Purkinje cell protein 4							85.0	81.0	83.0					21																	41301006		2203	4300	6503	SO:0001583	missense	5121				central nervous system development	cytosol|nucleus		g.chr21:41301006C>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.159C>A	21.37:g.41301006C>A	ENSP00000329403:p.Phe53Leu						p.F53L	NM_006198	NP_006189	P48539	PCP4_HUMAN			3	240	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	53			IQ.		A6NDJ9|Q6ICS4|Q93059	Missense_Mutation	SNP	ENST00000328619.5	37	c.159C>A	CCDS33563.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428674	0.83667	.	.	ENSG00000183036	ENST00000328619	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	.	.	.	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	D	0.83986	0.0335	8	0.72032	D	0.01	-13.4607	19.5078	0.95127	0.0:1.0:0.0:0.0	.	53	P48539	PCP4_HUMAN	L	53	.	ENSP00000329403:F53L	F	+	3	2	PCP4	40222876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.634000	0.54302	2.676000	0.91093	0.655000	0.94253	TTC		PASS	0.448	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		5	31	5	31	---	---	---	---
PDXK	8566	broad.mit.edu	37	21	45161591	45161591	+	Silent	SNP	C	C	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr21:45161591C>G	ENST00000291565.4	+	3	369	c.186C>G	c.(184-186)ctC>ctG	p.L62L	PDXK_ENST00000468090.1_Silent_p.L62L|PDXK_ENST00000467908.1_Silent_p.L22L	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	62					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)	p.L62L(2)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CAGATGAGCTCCAGGAGTTGT	0.587																																						uc002zdm.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(184-186)CTC>CTG		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						121.0	111.0	114.0					21																	45161591		2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45161591C>G	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.186C>G	21.37:g.45161591C>G						PDXK_uc010gpj.2_Silent_p.L62L|PDXK_uc002zdn.3_Silent_p.L62L|PDXK_uc002zdq.3_5'UTR	p.L62L	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	3	384	+			62					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.186C>G	CCDS13699.1																																																																																				PASS	0.587	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		6	37	6	37	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18300884	18300885	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:18300884_18300885CC>AA	ENST00000441493.2	-	26	4894_4895	c.4542_4543GG>TT	c.(4540-4545)gtGGag>gtTTag	p.E1515*	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1515					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	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)|zinc ion binding (GO:0008270)	p.E1515*(2)|p.V1514V(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCACGCTCTCCACAAACGACT	0.634																																						uc002zng.3																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(4543-4545)GAG>TAG|c.(4540-4542)GTG>GTT		microtubule associated monoxygenase, calponin																																				SO:0001587	stop_gained	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300884C>A|g.chr22:18300885C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4542_4543delinsAA	22.37:g.18300884_18300885delinsAA	ENSP00000416015:p.Glu1515*					MICAL3_uc011agl.1_Nonsense_Mutation_p.E1431*|MICAL3_uc010gre.1_5'Flank|MICAL3_uc011agl.1_Silent_p.V1430V|MICAL3_uc010gre.1_5'Flank	p.E1515*|p.V1514V	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4896|4895	-		all_epithelial(15;0.198)	1515|1514					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonsense_Mutation|Silent	SNP	ENST00000441493.2	37	c.4543G>T|c.4542G>T	CCDS46659.1																																																																																				PASS	0.634	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	14	7	14	---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21288203	21288203	+	Silent	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:21288203C>T	ENST00000354336.3	+	2	957	c.448C>T	c.(448-450)Cta>Tta	p.L150L		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	150	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.L150L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|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;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGGTGAGATCCTAGTGATAAT	0.483																																					Pancreas(85;3 1441 23889 42519 42763)	uc002ztf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)CTA>TTA		v-crk sarcoma virus CT10 oncogene homolog							132.0	134.0	133.0					22																	21288203		2203	4300	6503	SO:0001819	synonymous_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21288203C>T		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.448C>T	22.37:g.21288203C>T						CRKL_uc002ztg.1_RNA	p.L150L	NM_005207	NP_005198	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		2	957	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	150			SH3 1.		A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	c.448C>T	CCDS13785.1																																																																																				PASS	0.483	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		14	51	14	51	---	---	---	---
IGLC3	3539	broad.mit.edu	37	22	23247189	23247189	+	RNA	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:23247189C>A	ENST00000390325.2	+	0	0				IGLJ3_ENST00000390324.2_RNA			P0CG06	LAC3_HUMAN	immunoglobulin lambda constant 3 (Kern-Oz+ marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCGGAGGGACCAAGCTGACCG	0.542																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							229.0	201.0	210.0					22																	23247189		2023	4163	6186			96610							g.chr22:23247189C>A	J00254		22q11.2	2012-02-08			ENSG00000211679	ENSG00000211679		"""Immunoglobulins / IGL locus"""	5857	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG06	OTTHUMG00000151217		22.37:g.23247189C>A						uc002zws.2_Intron								373		+								A0M8Q4|P80423	RNA	SNP	ENST00000390325.2	37	c.15992C>A																																																																																					PASS	0.542	IGLC3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321821.3	NG_000002		6	79	6	79	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416160	30416160	+	Missense_Mutation	SNP	A	A	G			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:30416160A>G	ENST00000401950.2	+	17	2854	c.2512A>G	c.(2512-2514)Aga>Gga	p.R838G	MTMR3_ENST00000351488.3_Missense_Mutation_p.R838G|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.R838G|MTMR3_ENST00000406629.1_Missense_Mutation_p.R838G|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.R702G	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	838					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.R838G(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTTTGAGACCAGAGGACCAAA	0.463																																						uc003agv.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2512-2514)AGA>GGA		myotubularin-related protein 3 isoform c							107.0	98.0	101.0					22																	30416160		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416160A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2512A>G	22.37:g.30416160A>G	ENSP00000384651:p.Arg838Gly					MTMR3_uc003agu.3_Missense_Mutation_p.R838G|MTMR3_uc003agw.3_Missense_Mutation_p.R838G	p.R838G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2840	+			838					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2512A>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718308	0.48622	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94497	-3.23;-3.21;-3.44;-3.26;-3.21	5.4	3.27	0.37495	.	1.443650	0.03610	N	0.234621	D	0.94394	0.8197	L	0.27053	0.805	0.21416	N	0.999696	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.77557	0.99;0.977;0.99	D	0.85215	0.1023	10	0.34782	T	0.22	.	4.3062	0.10947	0.6942:0.0:0.158:0.1477	.	838;838;838	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	G	838;838;702;838;838	ENSP00000384651:R838G;ENSP00000331649:R838G;ENSP00000318070:R702G;ENSP00000307271:R838G;ENSP00000384077:R838G	ENSP00000318070:R702G	R	+	1	2	MTMR3	28746160	0.303000	0.24463	1.000000	0.80357	0.989000	0.77384	1.076000	0.30729	0.996000	0.38943	0.533000	0.62120	AGA		PASS	0.463	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		17	74	17	74	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31838065	31838065	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:31838065C>A	ENST00000397525.1	-	17	2469	c.2246G>T	c.(2245-2247)cGa>cTa	p.R749L	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R404L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R749L|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R725L|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R575L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	749						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R749L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAAGAGTCTCGATCGGCACT	0.483																																						uc003akz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2245-2247)CGA>CTA		eukaryotic translation initiation factor 4E							143.0	147.0	145.0					22																	31838065		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31838065C>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2246G>T	22.37:g.31838065C>A	ENSP00000380659:p.Arg749Leu					EIF4ENIF1_uc003akx.1_Missense_Mutation_p.R404L|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.R429L|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R749L|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.R575L|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.R239L	p.R749L	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			17	2410	-			749					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2246G>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885662	0.17540	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.17	1.3	0.21679	.	0.536026	0.21418	N	0.074868	T	0.15219	0.0367	N	0.11427	0.14	0.25777	N	0.984779	B;B;B;B	0.32203	0.36;0.36;0.185;0.18	B;B;B;B	0.24848	0.044;0.044;0.056;0.03	T	0.16129	-1.0413	9	0.27082	T	0.32	-1.7948	7.6702	0.28455	0.0:0.4382:0.0:0.5618	.	575;749;574;725	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	L	575;749;749;725;404	.	ENSP00000328103:R749L	R	-	2	0	EIF4ENIF1	30168065	1.000000	0.71417	0.722000	0.30670	0.161000	0.22273	0.865000	0.27940	0.306000	0.22856	-0.136000	0.14681	CGA		PASS	0.483	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		7	115	7	115	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35660936	35660936	+	Silent	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:35660936G>T	ENST00000216106.5	+	5	683	c.555G>T	c.(553-555)cgG>cgT	p.R185R	HMGXB4_ENST00000444518.2_Silent_p.R76R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	185					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.R185R(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGACCCTTCGGGAGCCTGATG	0.463																																						uc003anl.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(553-555)CGG>CGT		high-mobility group protein 2-like 1							105.0	111.0	109.0					22																	35660936		2203	4300	6503	SO:0001819	synonymous_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660936G>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.555G>T	22.37:g.35660936G>T						HMGXB4_uc011amh.1_Silent_p.R76R|HMGXB4_uc003ank.2_Silent_p.R76R	p.R185R	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			5	729	+			185					O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	c.555G>T	CCDS33641.1																																																																																				PASS	0.463	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		8	131	8	131	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696899	36696899	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:36696899G>T	ENST00000216181.5	-	22	3066	c.2836C>A	c.(2836-2838)Cag>Aag	p.Q946K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	946					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q946K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCAGGAACCTGGATGTTCTGC	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2836-2838)CAG>AAG		myosin, heavy polypeptide 9, non-muscle							50.0	54.0	52.0					22																	36696899		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696899G>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2836C>A	22.37:g.36696899G>T	ENSP00000216181:p.Gln946Lys					MYH9_uc003aph.1_Missense_Mutation_p.Q810K	p.Q946K	NM_002473	NP_002464	P35579	MYH9_HUMAN			22	3067	-			946			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2836C>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593771	0.46214	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.73469	-0.75	5.2	5.2	0.72013	.	0.331577	0.31438	N	0.007646	T	0.68229	0.2978	L	0.41961	1.31	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.65932	-0.6048	10	0.59425	D	0.04	.	14.6748	0.68972	0.0:0.1451:0.8549:0.0	.	946	P35579	MYH9_HUMAN	K	810;946	ENSP00000216181:Q946K	ENSP00000216181:Q946K	Q	-	1	0	MYH9	35026845	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.028000	0.49705	2.604000	0.88044	0.655000	0.94253	CAG		PASS	0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		5	31	5	31	---	---	---	---
NCF4	4689	broad.mit.edu	37	22	37260122	37260122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:37260122C>A	ENST00000248899.6	+	2	252	c.68C>A	c.(67-69)tCg>tAg	p.S23*	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Nonsense_Mutation_p.S23*|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	23	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.S23*(2)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GTTGCCATCTCGGCCAACATT	0.522																																						uc003apy.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(67-69)TCG>TAG		neutrophil cytosolic factor 4 isoform 1							213.0	183.0	193.0					22																	37260122		2203	4300	6503	SO:0001587	stop_gained	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37260122C>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.68C>A	22.37:g.37260122C>A	ENSP00000248899:p.Ser23*					NCF4_uc003apz.3_Nonsense_Mutation_p.S23*	p.S23*	NM_000631	NP_000622	Q15080	NCF4_HUMAN			2	252	+			23			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Nonsense_Mutation	SNP	ENST00000248899.6	37	c.68C>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	C	36	5.916654	0.97099	.	.	ENSG00000100365	ENST00000248899;ENST00000397147	.	.	.	5.05	5.05	0.67936	.	0.484707	0.21285	N	0.077096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5304	10.7917	0.46436	0.0:0.9119:0.0:0.0881	.	.	.	.	X	23	.	ENSP00000248899:S23X	S	+	2	0	NCF4	35590068	0.995000	0.38212	0.983000	0.44433	0.696000	0.40369	2.961000	0.49168	2.357000	0.79964	0.484000	0.47621	TCG		PASS	0.522	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		5	136	5	136	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50278129	50278129	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:50278129G>C	ENST00000216268.5	+	2	1296	c.819G>C	c.(817-819)aaG>aaC	p.K273N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	273						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K273N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAGCGGAGAAGAGCCTTCCAC	0.572																																						uc003bix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(817-819)AAG>AAC		zinc finger, BED-type containing 4							89.0	94.0	93.0					22																	50278129		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278129G>C	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.819G>C	22.37:g.50278129G>C	ENSP00000216268:p.Lys273Asn						p.K273N	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1289	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	273					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.819G>C	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	5.954	0.359941	0.11296	.	.	ENSG00000100426	ENST00000216268	T	0.46819	0.86	5.41	-9.76	0.00503	.	0.563696	0.18867	N	0.128964	T	0.32224	0.0822	N	0.24115	0.695	0.09310	N	1	P	0.46706	0.883	B	0.41860	0.368	T	0.51710	-0.8671	10	0.52906	T	0.07	-22.5932	21.956	0.99964	0.8837:0.0:0.1163:0.0	.	273	O75132	ZBED4_HUMAN	N	273	ENSP00000216268:K273N	ENSP00000216268:K273N	K	+	3	2	ZBED4	48664133	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.019000	0.13444	-2.185000	0.00761	-0.781000	0.03364	AAG		PASS	0.572	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	81	4	81	---	---	---	---
PPP6R2	9701	broad.mit.edu	37	22	50845250	50845250	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr22:50845250C>A	ENST00000216061.5	+	5	730	c.360C>A	c.(358-360)ctC>ctA	p.L120L	PPP6R2_ENST00000359139.3_Silent_p.L120L|PPP6R2_ENST00000395741.3_Silent_p.L120L|PPP6R2_ENST00000395744.3_Silent_p.L120L			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	120						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L120L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ATCCTCTGCTCGCCAGTTTTT	0.557																																						uc003blb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)CTC>CTA		SAPS domain family, member 2							229.0	231.0	230.0					22																	50845250		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50845250C>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.360C>A	22.37:g.50845250C>A						SAPS2_uc003bky.1_Silent_p.L120L|SAPS2_uc003bkz.1_Silent_p.L120L|SAPS2_uc003blc.2_Silent_p.L120L|SAPS2_uc003bla.1_Silent_p.L120L	p.L120L	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	5	782	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	120					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.360C>A																																																																																					PASS	0.557	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		7	260	7	260	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15768283	15768283	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:15768283G>T	ENST00000318636.3	+	2	273	c.137G>T	c.(136-138)cGa>cTa	p.R46L	CA5B_ENST00000454127.2_Missense_Mutation_p.R46L|CA5B_ENST00000380313.1_3'UTR	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R46L(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					ACCCGGAACCGAGCCTGTGAG	0.463																																						uc004cxe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CGA>CTA		carbonic anhydrase VB, mitochondrial precursor							71.0	74.0	73.0					X																	15768283		2203	4300	6503	SO:0001583	missense	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15768283G>T	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.137G>T	X.37:g.15768283G>T	ENSP00000314099:p.Arg46Leu						p.R46L	NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN			2	254	+	Hepatocellular(33;0.183)		46					A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	c.137G>T	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786377	0.31593	.	.	ENSG00000169239	ENST00000498004;ENST00000318636;ENST00000479740;ENST00000454127	T;T;T	0.65732	-0.17;-0.17;-0.17	5.37	4.48	0.54585	Carbonic anhydrase, alpha-class, catalytic domain (2);	0.000000	0.37219	N	0.002192	T	0.45115	0.1326	N	0.14661	0.345	0.33986	D	0.648561	B	0.32071	0.355	B	0.32805	0.153	T	0.59005	-0.7535	10	0.72032	D	0.01	-5.0662	10.9107	0.47108	0.0:0.1852:0.8148:0.0	.	46	Q9Y2D0	CAH5B_HUMAN	L	46	ENSP00000314099:R46L;ENSP00000417553:R46L;ENSP00000417021:R46L	ENSP00000314099:R46L	R	+	2	0	CA5B	15678204	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.287000	0.43505	1.000000	0.39049	0.513000	0.50165	CGA		PASS	0.463	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		5	51	5	51	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18616696	18616696	+	Missense_Mutation	SNP	A	A	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:18616696A>C	ENST00000379989.3	+	12	1225	c.940A>C	c.(940-942)Aaa>Caa	p.K314Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.K314Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	314					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.K314Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCAAAAAGAAAACCTTACCA	0.423																																						uc004cym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(940-942)AAA>CAA		cyclin-dependent kinase-like 5							103.0	90.0	94.0					X																	18616696		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18616696A>C	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.940A>C	X.37:g.18616696A>C	ENSP00000369325:p.Lys314Gln					CDKL5_uc004cyn.2_Missense_Mutation_p.K314Q	p.K314Q	NM_003159	NP_003150	O76039	CDKL5_HUMAN			11	1193	+	Hepatocellular(33;0.183)		314					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.940A>C	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472278	0.84533	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70749	-0.51;-0.51	5.52	5.52	0.82312	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	L	0.34521	1.04	0.43761	D	0.99627	D	0.63880	0.993	P	0.58391	0.838	T	0.76138	-0.3069	10	0.56958	D	0.05	-24.5271	14.6513	0.68800	1.0:0.0:0.0:0.0	.	314	O76039	CDKL5_HUMAN	Q	314	ENSP00000369332:K314Q;ENSP00000369325:K314Q	ENSP00000369325:K314Q	K	+	1	0	CDKL5	18526617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	1.841000	0.53522	0.486000	0.48141	AAA		PASS	0.423	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		8	35	8	35	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22095759	22095759	+	Missense_Mutation	SNP	C	C	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:22095759C>T	ENST00000379374.4	+	5	1167	c.602C>T	c.(601-603)tCt>tTt	p.S201F	PHEX_ENST00000537599.1_Missense_Mutation_p.S201F|PHEX_ENST00000535894.1_Missense_Mutation_p.S104F	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	201					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S201F(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TACAGCAATTCTGTGTTCATC	0.443																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(601-603)TCT>TTT		phosphate-regulating neutral endopeptidase							219.0	194.0	203.0					X																	22095759		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22095759C>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.602C>T	X.37:g.22095759C>T	ENSP00000368682:p.Ser201Phe					PHEX_uc011mjr.1_Missense_Mutation_p.S201F|PHEX_uc011mjs.1_Missense_Mutation_p.S104F	p.S201F	NM_000444	NP_000435	P78562	PHEX_HUMAN			5	805	+			201			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.602C>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936811	0.73557	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.82803	-1.65;-1.65;-1.65	5.52	5.52	0.82312	Peptidase M13 (1);	0.094242	0.64402	D	0.000001	D	0.90800	0.7111	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.952;0.972	D	0.91146	0.4949	10	0.54805	T	0.06	.	18.4851	0.90825	0.0:1.0:0.0:0.0	.	201;201	F5GXU4;P78562	.;PHEX_HUMAN	F	201;201;104	ENSP00000368682:S201F;ENSP00000440362:S201F;ENSP00000439418:S104F	ENSP00000368682:S201F	S	+	2	0	PHEX	22005680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.486000	0.66856	2.306000	0.77630	0.600000	0.82982	TCT		PASS	0.443	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		23	50	23	50	---	---	---	---
APOO	79135	broad.mit.edu	37	X	23858459	23858459	+	Nonstop_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:23858459C>A	ENST00000379226.4	-	8	828	c.597G>T	c.(595-597)taG>taT	p.*199Y	APOO_ENST00000476598.1_5'UTR|APOO_ENST00000379220.3_Nonstop_Mutation_p.*180Y	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	0					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)		p.*199Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						ATGGAGTTTTCTACTTAGTTC	0.343																																						uc004dax.2																			1	Nonstop extension(1)		lung(1)		0						c.(595-597)TAG>TAT		apolipoprotein O precursor							71.0	80.0	77.0					X																	23858459		2202	4298	6500	SO:0001578	stop_lost	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23858459C>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.597G>T	X.37:g.23858459C>A						APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	p.*199Y	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN			8	828	-			199					B2R4K9|Q9H3J9	Nonstop_Mutation	SNP	ENST00000379226.4	37	c.597G>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372455	0.11409	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	.	.	.	4.24	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0999	0.25332	0.0:0.877:0.0:0.123	.	.	.	.	Y	199;179;180	.	.	X	-	3	2	APOO	23768380	1.000000	0.71417	0.926000	0.36857	0.852000	0.48524	1.106000	0.31098	1.128000	0.42052	0.513000	0.50165	TAG		PASS	0.343	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		7	110	7	110	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24381386	24381386	+	IGR	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:24381386C>A								AC004552.1 (14363 upstream) : PDK3 (101951 downstream)														p.T277K(1)									CTACGTCCAACGATGCAGACT	0.468																																						uc011mjx.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(508-510)ACG>AAG		hypothetical protein LOC100130302							220.0	212.0	215.0					X																	24381386		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24381386C>A																													X.37:g.24381386C>A							p.T170K	NM_001136234	NP_001129706					1	509	+									Missense_Mutation	SNP		37	c.509C>A																																																																																				0	PASS	0.468									5	83	5	83	---	---	---	---
CXorf21	80231	broad.mit.edu	37	X	30577741	30577741	+	Silent	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:30577741G>C	ENST00000378962.3	-	3	1054	c.732C>G	c.(730-732)ctC>ctG	p.L244L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	244								p.L244L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TTGTCATGATGAGTTCAGACG	0.428																																						uc004dcg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(730-732)CTC>CTG		hypothetical protein LOC80231							128.0	111.0	117.0					X																	30577741		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577741G>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.732C>G	X.37:g.30577741G>C							p.L244L	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	1008	-			244						Silent	SNP	ENST00000378962.3	37	c.732C>G	CCDS14224.1																																																																																				PASS	0.428	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		6	20	6	20	---	---	---	---
CXorf21	80231	broad.mit.edu	37	X	30577970	30577970	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:30577970G>C	ENST00000378962.3	-	3	825	c.503C>G	c.(502-504)tCc>tGc	p.S168C		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	168								p.S168C(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGTAGAAATGGAATCCTCCAT	0.428																																						uc004dcg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(502-504)TCC>TGC		hypothetical protein LOC80231							55.0	54.0	54.0					X																	30577970		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577970G>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.503C>G	X.37:g.30577970G>C	ENSP00000368245:p.Ser168Cys						p.S168C	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	779	-			168						Missense_Mutation	SNP	ENST00000378962.3	37	c.503C>G	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749142	0.49257	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	3.46	0.39613	.	0.130615	0.52532	D	0.000067	T	0.68100	0.2964	M	0.64997	1.995	0.36690	D	0.879505	D	0.69078	0.997	D	0.63192	0.912	T	0.74386	-0.3682	9	0.52906	T	0.07	-0.0123	11.1445	0.48422	0.1563:0.0:0.8437:0.0	.	168	Q9HAI6	CX021_HUMAN	C	168	.	ENSP00000368245:S168C	S	-	2	0	CXorf21	30487891	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.785000	0.62418	1.190000	0.43042	0.513000	0.50165	TCC		PASS	0.428	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		6	14	6	14	---	---	---	---
CXorf21	80231	broad.mit.edu	37	X	30578451	30578451	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:30578451T>C	ENST00000378962.3	-	3	344	c.22A>G	c.(22-24)Agt>Ggt	p.S8G		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	8								p.S8G(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCAAGTCCACTGAGATACCCT	0.408																																						uc004dcg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(22-24)AGT>GGT		hypothetical protein LOC80231							39.0	33.0	35.0					X																	30578451		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578451T>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.22A>G	X.37:g.30578451T>C	ENSP00000368245:p.Ser8Gly						p.S8G	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	298	-			8						Missense_Mutation	SNP	ENST00000378962.3	37	c.22A>G	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191258	0.21954	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.24	4.01	0.46588	.	0.263447	0.33180	N	0.005199	T	0.33000	0.0848	L	0.54323	1.7	0.24833	N	0.99252	B	0.31290	0.318	B	0.32149	0.141	T	0.13710	-1.0499	9	0.25751	T	0.34	-11.3725	5.6208	0.17455	0.4038:0.0:0.1226:0.4735	.	8	Q9HAI6	CX021_HUMAN	G	8	.	ENSP00000368245:S8G	S	-	1	0	CXorf21	30488372	0.999000	0.42202	1.000000	0.80357	0.931000	0.56810	0.788000	0.26872	1.935000	0.56089	0.437000	0.28790	AGT		PASS	0.408	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		12	10	12	10	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54275131	54275131	+	Splice_Site	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:54275131T>A	ENST00000375159.2	-	16	3649	c.3650A>T	c.(3649-3651)cAt>cTt	p.H1217L	WNK3_ENST00000375169.3_Splice_Site_p.H1217L|WNK3_ENST00000354646.2_Splice_Site_p.H1217L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1217					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H1217L(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATACTTACATGTAAACACAA	0.368																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3649-3651)CAT>CTT		WNK lysine deficient protein kinase 3 isoform 2							51.0	45.0	47.0					X																	54275131		2203	4299	6502	SO:0001630	splice_region_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275131T>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3651+1A>T	X.37:g.54275131T>A						WNK3_uc004dtc.1_Missense_Mutation_p.H1217L	p.H1217L	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			17	4089	-			1217					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3650A>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539856	0.45176	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70282	-0.43;-0.47;-0.47	5.35	4.17	0.49024	.	0.101366	0.43919	D	0.000502	T	0.67804	0.2932	L	0.27053	0.805	0.26436	N	0.975863	D;P	0.56035	0.974;0.956	P;B	0.58721	0.844;0.366	T	0.58685	-0.7593	10	0.40728	T	0.16	-12.838	8.4292	0.32746	0.0:0.0958:0.0:0.9042	.	1217;1217	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	L	1217	ENSP00000364312:H1217L;ENSP00000346667:H1217L;ENSP00000364301:H1217L	ENSP00000346667:H1217L	H	-	2	0	WNK3	54291856	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.761000	0.47589	1.775000	0.52247	0.441000	0.28932	CAT		PASS	0.368	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	Missense_Mutation	6	9	6	9	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65252402	65252402	+	Missense_Mutation	SNP	G	G	T	rs150666044		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:65252402G>T	ENST00000374737.4	-	3	710	c.602C>A	c.(601-603)gCg>gAg	p.A201E	VSIG4_ENST00000455586.2_Missense_Mutation_p.A201E|VSIG4_ENST00000412866.2_Intron	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	201	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A201E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTATCACCGCAGGCTTGAA	0.502																																						uc004dwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GCG>GAG		V-set and immunoglobulin domain containing 4							165.0	139.0	148.0					X																	65252402		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252402G>T	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.602C>A	X.37:g.65252402G>T	ENSP00000363869:p.Ala201Glu					VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.A201E|VSIG4_uc004dwj.2_Missense_Mutation_p.A201E|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.A201E|VSIG4_uc004dwl.2_Missense_Mutation_p.A97E	p.A201E	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			3	729	-			201			Ig-like 2.|Extracellular (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.602C>A	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.34|10.34	1.324208|1.324208	0.24080|0.24080	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000423830|ENST00000427538	T;T;T|.	0.03301|.	3.98;3.98;3.98|.	4.04|4.04	3.17|3.17	0.36434|0.36434	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.404987|.	0.20757|.	N|.	0.086226|.	T|.	0.64768|.	0.2628|.	M|M	0.90922|0.90922	3.16|3.16	0.26840|0.26840	N|N	0.968403|0.968403	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.80764|.	0.979;0.994;0.992;0.982|.	T|.	0.59553|.	-0.7433|.	10|.	0.49607|.	T|.	0.09|.	-3.68|-3.68	7.0806|7.0806	0.25229|0.25229	0.1322:0.0:0.8678:0.0|0.1322:0.0:0.8678:0.0	.|.	201;124;191;201|.	Q9Y279-2;C9JTJ4;C9JH67;Q9Y279|.	.;.;.;VSIG4_HUMAN|.	E|X	201;201;124|127	ENSP00000363869:A201E;ENSP00000411581:A201E;ENSP00000414594:A124E|.	ENSP00000363869:A201E|.	A|C	-|-	2|3	0|2	VSIG4|VSIG4	65169127|65169127	0.980000|0.980000	0.34600|0.34600	0.526000|0.526000	0.27913|0.27913	0.026000|0.026000	0.11368|0.11368	2.279000|2.279000	0.43435|0.43435	0.546000|0.546000	0.28920|0.28920	0.594000|0.594000	0.82650|0.82650	GCG|TGC		PASS	0.502	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		12	14	12	14	---	---	---	---
ABCB7	22	broad.mit.edu	37	X	74282203	74282203	+	Missense_Mutation	SNP	T	T	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:74282203T>C	ENST00000373394.3	-	14	1902	c.1895A>G	c.(1894-1896)tAt>tGt	p.Y632C	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Missense_Mutation_p.Y633C|ABCB7_ENST00000339447.4_Missense_Mutation_p.Y592C			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	632	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.Y633C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AGCTTCATCATAGAGTATGAC	0.353																																						uc004eca.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1894-1896)TAT>TGT		ATP-binding cassette, sub-family B, member 7							96.0	86.0	89.0					X																	74282203		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74282203T>C	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1895A>G	X.37:g.74282203T>C	ENSP00000362492:p.Tyr632Cys					ABCB7_uc004ebz.2_Missense_Mutation_p.Y633C|ABCB7_uc011mqn.1_Missense_Mutation_p.Y606C|ABCB7_uc010nls.2_Missense_Mutation_p.Y593C|ABCB7_uc010nlt.2_Missense_Mutation_p.Y592C	p.Y632C	NM_004299	NP_004290	O75027	ABCB7_HUMAN			14	1920	-			632			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1895A>G		.	.	.	.	.	.	.	.	.	.	T	16.97	3.268517	0.59540	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	N	0.02379	-0.575	0.80722	D	1	B;D;D;B;D	0.89917	0.019;1.0;1.0;0.024;1.0	B;D;D;B;D	0.85130	0.037;0.996;0.997;0.102;0.996	D	0.91075	0.4895	10	0.42905	T	0.14	-7.199	13.4304	0.61051	0.0:0.0:0.0:1.0	.	606;592;633;632;633	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	C	606;633;592;632;606	ENSP00000253577:Y633C;ENSP00000343849:Y592C;ENSP00000362492:Y632C;ENSP00000436586:Y606C	ENSP00000253577:Y633C	Y	-	2	0	ABCB7	74198928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	1.765000	0.52091	0.481000	0.45027	TAT		PASS	0.353	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		19	23	19	23	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77301961	77301961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:77301961C>A	ENST00000341514.6	+	23	4552	c.4397C>A	c.(4396-4398)tCa>tAa	p.S1466*	ATP7A_ENST00000343533.5_Nonsense_Mutation_p.S1388*|ATP7A_ENST00000350425.4_Nonsense_Mutation_p.S469*	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1466					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.S1466*(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTATAAACTCACTACTGTCT	0.443																																						uc004ecx.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(4396-4398)TCA>TAA		ATPase, Cu++ transporting, alpha polypeptide							190.0	189.0	189.0					X																	77301961		2203	4296	6499	SO:0001587	stop_gained	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301961C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4397C>A	X.37:g.77301961C>A	ENSP00000345728:p.Ser1466*						p.S1466*	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			23	4557	+			1466			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Nonsense_Mutation	SNP	ENST00000341514.6	37	c.4397C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	44	11.013908	0.99503	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8071	17.4117	0.87487	0.0:1.0:0.0:0.0	.	.	.	.	X	1388;469;1466	.	ENSP00000345728:S1466X	S	+	2	0	ATP7A	77188617	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.358000	0.79466	2.036000	0.60181	0.436000	0.28706	TCA		PASS	0.443	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		7	100	7	100	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79975108	79975108	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:79975108G>T	ENST00000373275.4	-	18	2140	c.1924C>A	c.(1924-1926)Caa>Aaa	p.Q642K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	642					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.Q642K(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCTCATCTTGGTCATTGGTT	0.383																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1924-1926)CAA>AAA		bromodomain and WD repeat domain containing 3							199.0	166.0	177.0					X																	79975108		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79975108G>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1924C>A	X.37:g.79975108G>T	ENSP00000362372:p.Gln642Lys					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.Q238K|BRWD3_uc004edp.2_Missense_Mutation_p.Q471K|BRWD3_uc004edq.2_Missense_Mutation_p.Q238K|BRWD3_uc010nmj.1_Missense_Mutation_p.Q238K|BRWD3_uc004edr.2_Missense_Mutation_p.Q312K|BRWD3_uc004eds.2_Missense_Mutation_p.Q238K|BRWD3_uc004edu.2_Missense_Mutation_p.Q312K|BRWD3_uc004edv.2_Missense_Mutation_p.Q238K|BRWD3_uc004edw.2_Missense_Mutation_p.Q238K|BRWD3_uc004edx.2_Missense_Mutation_p.Q238K|BRWD3_uc004edy.2_Missense_Mutation_p.Q238K|BRWD3_uc004edz.2_Missense_Mutation_p.Q312K|BRWD3_uc004eea.2_Missense_Mutation_p.Q312K|BRWD3_uc004eeb.2_Missense_Mutation_p.Q238K	p.Q642K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			18	2187	-			642					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1924C>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380836	0.42207	.	.	ENSG00000165288	ENST00000373275	T	0.53640	0.61	5.1	3.23	0.37069	.	0.171915	0.52532	D	0.000065	T	0.46983	0.1421	M	0.71581	2.175	0.31586	N	0.654446	B	0.29378	0.243	B	0.28465	0.09	T	0.55611	-0.8114	9	.	.	.	-5.4556	14.64	0.68717	0.0:0.2667:0.7333:0.0	.	642	Q6RI45	BRWD3_HUMAN	K	642	ENSP00000362372:Q642K	.	Q	-	1	0	BRWD3	79861764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.293000	0.65680	1.125000	0.41998	0.600000	0.82982	CAA		PASS	0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		7	74	7	74	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86773049	86773049	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:86773049G>T	ENST00000373119.4	+	1	298	c.153G>T	c.(151-153)agG>agT	p.R51S	KLHL4_ENST00000373114.4_Missense_Mutation_p.R51S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R51S(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTCAGGGCAGGTTGAAGAGCC	0.547																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(151-153)AGG>AGT		kelch-like 4 isoform 1							77.0	66.0	69.0					X																	86773049		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773049G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.153G>T	X.37:g.86773049G>T	ENSP00000362211:p.Arg51Ser					KLHL4_uc004efa.2_Missense_Mutation_p.R51S	p.R51S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	335	+			51					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.153G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849853	0.32699	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.81739	-1.53;-1.5	5.05	-2.34	0.06704	.	1.446850	0.04397	N	0.363453	T	0.76026	0.3930	M	0.63428	1.95	0.45883	D	0.998734	B;B	0.16802	0.004;0.019	B;B	0.25506	0.007;0.061	T	0.51060	-0.8753	10	0.36615	T	0.2	.	4.6334	0.12513	0.3237:0.0:0.4614:0.2149	.	51;51	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	S	51	ENSP00000362211:R51S;ENSP00000362206:R51S	ENSP00000362206:R51S	R	+	3	2	KLHL4	86659705	0.780000	0.28664	0.562000	0.28370	0.957000	0.61999	-0.053000	0.11846	-1.064000	0.03172	0.513000	0.50165	AGG		PASS	0.547	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			5	19	5	19	---	---	---	---
RAB40AL	282808	broad.mit.edu	37	X	102192998	102192998	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:102192998G>T	ENST00000218249.5	+	1	799	c.752G>T	c.(751-753)aGg>aTg	p.R251M	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	251					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R251M(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACTCACAAAAGGAGCAGCCTC	0.527																																						uc004ejs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(751-753)AGG>ATG		RAB40A, member RAS oncogene family-like							122.0	111.0	115.0					X																	102192998		2203	4300	6503	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192998G>T	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.752G>T	X.37:g.102192998G>T	ENSP00000218249:p.Arg251Met						p.R251M	NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN			1	799	+			251					Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.752G>T	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.974482	0.34848	.	.	ENSG00000102128	ENST00000218249	T	0.72051	-0.62	0.819	0.819	0.18785	.	0.000000	0.46145	U	0.000312	T	0.74665	0.3746	M	0.68952	2.095	0.47511	D	0.99944	D	0.55605	0.972	P	0.57776	0.827	T	0.73874	-0.3845	10	0.66056	D	0.02	.	7.2459	0.26121	1.0E-4:0.0:0.9999:0.0	.	251	P0C0E4	RB40L_HUMAN	M	251	ENSP00000218249:R251M	ENSP00000218249:R251M	R	+	2	0	RAB40AL	102079654	1.000000	0.71417	0.009000	0.14445	0.035000	0.12851	4.886000	0.63149	0.682000	0.31407	0.462000	0.41574	AGG		PASS	0.527	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		6	45	6	45	---	---	---	---
FAM199X	139231	broad.mit.edu	37	X	103432970	103432970	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:103432970C>A	ENST00000493442.1	+	5	1145	c.979C>A	c.(979-981)Cgg>Agg	p.R327R	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	327								p.R327R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TGCAGCAGAGCGGATTCGGGA	0.403																																						uc004elw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(979-981)CGG>AGG		hypothetical protein LOC139231							110.0	111.0	111.0					X																	103432970		2203	4300	6503	SO:0001819	synonymous_variant	139231							g.chrX:103432970C>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.979C>A	X.37:g.103432970C>A						FAM199X_uc004elx.2_Intron	p.R327R	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN			5	1145	+			327					Q8WVP6|Q96AV3	Silent	SNP	ENST00000493442.1	37	c.979C>A	CCDS35364.1																																																																																				PASS	0.403	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		5	66	5	66	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105183976	105183976	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:105183976G>T	ENST00000243300.9	+	23	4213	c.3910G>T	c.(3910-3912)Gcc>Tcc	p.A1304S	NRK_ENST00000428173.2_Missense_Mutation_p.A1305S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1304	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A1305S(1)|p.A1304S(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACAGAGGAAGCCTGCAAAGC	0.388										HNSCC(51;0.14)			G|||	1	0.000264901	0.0	0.0	3775	,	,		11547	0.0		0.001	False		,,,				2504	0.0					uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3910-3912)GCC>TCC		Nik related kinase							81.0	75.0	76.0					X																	105183976		1863	4089	5952	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105183976G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3910G>T	X.37:g.105183976G>T	ENSP00000434830:p.Ala1304Ser	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.A972S	p.A1304S	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			23	4213	+			1304			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3910G>T		.	.	.	.	.	.	.	.	.	.	G	15.69	2.907702	0.52333	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.05139	3.49;3.49	5.48	3.73	0.42828	Citron-like (2);	0.149903	0.31392	N	0.007731	T	0.11922	0.0290	L	0.36672	1.1	0.80722	D	1	D;B	0.62365	0.991;0.262	P;B	0.58520	0.84;0.285	T	0.01500	-1.1339	10	0.87932	D	0	.	9.4081	0.38473	0.1787:0.0:0.8213:0.0	.	972;1304	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	1304;1305	ENSP00000434830:A1304S;ENSP00000438378:A1305S	ENSP00000434830:A1304S	A	+	1	0	NRK	105070632	1.000000	0.71417	0.950000	0.38849	0.473000	0.32948	4.362000	0.59467	0.606000	0.29965	-0.296000	0.09543	GCC		PASS	0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	13	4	13	---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106228456	106228456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:106228456C>A	ENST00000355610.4	-	5	818	c.544G>T	c.(544-546)Gag>Tag	p.E182*	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Nonsense_Mutation_p.E182*	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	182						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E182*(1)|p.E5*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATGAATCCTCGGTAATAATC	0.373																																						uc004emu.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(544-546)GAG>TAG		zinc finger, CW type with coiled-coil domain 2							92.0	91.0	92.0					X																	106228456		2203	4300	6503	SO:0001587	stop_gained	79710						ATP binding|zinc ion binding	g.chrX:106228456C>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.544G>T	X.37:g.106228456C>A	ENSP00000347821:p.Glu182*					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Nonsense_Mutation_p.E182*|MORC4_uc004emw.3_Intron	p.E182*	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			5	787	-			182					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Nonsense_Mutation	SNP	ENST00000355610.4	37	c.544G>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	37	6.495379	0.97612	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	.	.	.	4.91	4.04	0.47022	.	0.874787	0.09958	N	0.733833	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.8595	7.026	0.24940	0.0:0.8795:0.0:0.1205	.	.	.	.	X	182	.	ENSP00000255495:E182X	E	-	1	0	MORC4	106115112	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	4.368000	0.59505	2.356000	0.79943	0.600000	0.82982	GAG		PASS	0.373	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		5	108	5	108	---	---	---	---
MID2	11043	broad.mit.edu	37	X	107160757	107160757	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:107160757G>T	ENST00000262843.6	+	7	1771	c.1223G>T	c.(1222-1224)cGa>cTa	p.R408L	MID2_ENST00000443968.2_Missense_Mutation_p.R408L|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	408	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R388L(1)|p.R408L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCATCTATCCGAGAAGAACTC	0.443																																						uc004enl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1222-1224)CGA>CTA		midline 2 isoform 1							250.0	236.0	241.0					X																	107160757		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160757G>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1223G>T	X.37:g.107160757G>T	ENSP00000262843:p.Arg408Leu					MID2_uc004enk.2_Missense_Mutation_p.R408L	p.R408L	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			7	1796	+			408			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1223G>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682423	0.29872	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.39406	1.08;1.08	5.48	4.43	0.53597	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.123114	0.53938	D	0.000046	T	0.30039	0.0752	L	0.32530	0.975	0.49798	D	0.99982	P;B	0.34892	0.474;0.0	B;B	0.36808	0.233;0.004	T	0.04481	-1.0948	10	0.11485	T	0.65	.	11.222	0.48860	0.1094:0.0:0.8906:0.0	.	408;408	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	L	408	ENSP00000262843:R408L;ENSP00000413976:R408L	ENSP00000262843:R408L	R	+	2	0	MID2	107047413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.598000	0.82745	2.294000	0.77228	0.538000	0.68166	CGA		PASS	0.443	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		6	105	6	105	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107979494	107979494	+	Silent	SNP	T	T	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:107979494T>A	ENST00000372129.2	-	1	157	c.81A>T	c.(79-81)gcA>gcT	p.A27A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	27	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A27A(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCACCACTGCTGCTAGAGCTG	0.617																																						uc004eoc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(79-81)GCA>GCT		insulin receptor substrate 4							28.0	30.0	30.0					X																	107979494		2202	4296	6498	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979494T>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.81A>T	X.37:g.107979494T>A							p.A27A	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	114	-			27			Poly-Ala.			Silent	SNP	ENST00000372129.2	37	c.81A>T	CCDS14544.1																																																																																				PASS	0.617	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		9	10	9	10	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119664005	119664005	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:119664005G>T	ENST00000404115.3	-	21	2999	c.2598C>A	c.(2596-2598)caC>caA	p.H866Q	CUL4B_ENST00000371322.5_Missense_Mutation_p.H848Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.H853Q	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	866					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H866Q(1)|p.H848Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGGAGATTGTGGCTAAGTG	0.353																																						uc004esw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2596-2598)CAC>CAA		cullin 4B isoform 1							261.0	236.0	245.0					X																	119664005		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119664005G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2598C>A	X.37:g.119664005G>T	ENSP00000384109:p.His866Gln					CUL4B_uc010nqq.2_Missense_Mutation_p.H567Q|CUL4B_uc004esv.2_Missense_Mutation_p.H848Q	p.H866Q	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			21	3035	-			866					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2598C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258725	0.59321	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.75260	-0.91;-0.91;-0.92	5.46	3.67	0.42095	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	H	0.95539	3.685	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.953;0.966;0.942	D	0.89814	0.3984	9	.	.	.	-8.7702	10.1664	0.42882	0.2334:0.0:0.7666:0.0	.	670;866;848	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	Q	848;853;866	ENSP00000360373:H848Q;ENSP00000338919:H853Q;ENSP00000384109:H866Q	.	H	-	3	2	CUL4B	119548033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.457000	0.45005	1.077000	0.40990	0.594000	0.82650	CAC		PASS	0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		6	109	6	109	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122765633	122765633	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:122765633C>A	ENST00000245838.8	-	22	2418	c.2387G>T	c.(2386-2388)cGa>cTa	p.R796L	THOC2_ENST00000491737.1_Missense_Mutation_p.R681L|THOC2_ENST00000355725.4_Missense_Mutation_p.R796L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	796					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.R717L(2)|p.R796L(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAAGGCACTCGCTTTATATA	0.368																																						uc004etu.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(2386-2388)CGA>CTA		THO complex 2							172.0	161.0	164.0					X																	122765633		1854	4090	5944	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122765633C>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2387G>T	X.37:g.122765633C>A	ENSP00000245838:p.Arg796Leu					THOC2_uc011muh.1_Missense_Mutation_p.R721L	p.R796L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			22	2419	-			796					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2387G>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303263	0.60195	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.12	0.69794	.	0.105638	0.39210	N	0.001422	T	0.39835	0.1093	N	0.16368	0.405	0.80722	D	1	B;B	0.16802	0.019;0.013	B;B	0.18871	0.007;0.023	T	0.20240	-1.0281	9	0.10377	T	0.69	-3.676	14.2222	0.65836	0.0:0.9272:0.0:0.0728	.	721;796	B4DKZ6;Q8NI27	.;THOC2_HUMAN	L	796;796;681;721	.	ENSP00000245838:R796L	R	-	2	0	THOC2	122593314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.932000	0.63476	1.284000	0.44531	0.600000	0.82982	CGA		PASS	0.368	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			6	118	6	118	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128710040	128710040	+	Splice_Site	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:128710040G>T	ENST00000371113.4	+	17	2044		c.e17+1		OCRL_ENST00000357121.5_Splice_Site	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.?(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTGGAGCCAAGTGAGTTTTCC	0.458																																						uc004euq.2																			1	Unknown(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.e17+1		phosphatidylinositol polyphosphate 5-phosphatase							133.0	120.0	125.0					X																	128710040		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128710040G>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1879+1G>T	X.37:g.128710040G>T						OCRL_uc004eur.2_Splice_Site_p.N627_splice	p.N627_splice	NM_000276	NP_000267	Q01968	OCRL_HUMAN			17	2044	+								A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.1879_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301509	0.81136	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9182	0.88958	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OCRL	128537721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.452000	0.82932	0.600000	0.82982	.		PASS	0.458	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Intron	5	55	5	55	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130217734	130217734	+	Missense_Mutation	SNP	A	A	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:130217734A>T	ENST00000276211.5	+	4	691	c.346A>T	c.(346-348)Agc>Tgc	p.S116C	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S104C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	116					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S116C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATTTGGCATTAGCCTGGAAGA	0.557																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(346-348)AGC>TGC		hypothetical protein LOC158763 precursor							151.0	145.0	147.0					X																	130217734		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217734A>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.346A>T	X.37:g.130217734A>T	ENSP00000276211:p.Ser116Cys					ARHGAP36_uc004ewa.2_Missense_Mutation_p.S104C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S85C|ARHGAP36_uc004ewc.2_5'UTR	p.S116C	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			4	691	+			116					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.346A>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504595	0.26949	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.10382	2.88;2.9;2.9	4.3	2.55	0.30701	Rho GTPase-activating protein domain (1);	0.609536	0.14869	N	0.293638	T	0.05135	0.0137	N	0.08118	0	0.19300	N	0.99998	B;B;B	0.18741	0.03;0.03;0.018	B;B;B	0.15052	0.012;0.012;0.005	T	0.34179	-0.9839	10	0.72032	D	0.01	.	4.3527	0.11163	0.2252:0.6572:0.0:0.1176	.	85;104;116	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	116;104;68;85	ENSP00000276211:S116C;ENSP00000359960:S104C;ENSP00000408515:S85C	ENSP00000276211:S116C	S	+	1	0	ARHGAP36	130045415	0.717000	0.27966	0.161000	0.22692	0.805000	0.45488	0.504000	0.22626	0.568000	0.29311	-0.185000	0.12909	AGC		PASS	0.557	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		39	54	39	54	---	---	---	---
GPC4	2239	broad.mit.edu	37	X	132458415	132458415	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:132458415G>T	ENST00000370828.3	-	3	993	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	GPC4_ENST00000535467.1_Missense_Mutation_p.L87M	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	157					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|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)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L157M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTTCCAGGTTCACATTT	0.438																																						uc004exc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CTG>ATG		glypican 4 precursor							162.0	163.0	162.0					X																	132458415		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132458415G>T	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.469C>A	X.37:g.132458415G>T	ENSP00000359864:p.Leu157Met					GPC4_uc011mvg.1_Missense_Mutation_p.L87M	p.L157M	NM_001448	NP_001439	O75487	GPC4_HUMAN			3	681	-	Acute lymphoblastic leukemia(192;0.000127)		157					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.469C>A	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265527	0.80358	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.59502	0.26;0.26	6.08	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.89601	3.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82514	-0.0419	10	0.87932	D	0	-42.1142	11.608	0.51043	0.1488:0.0:0.8512:0.0	.	157	O75487	GPC4_HUMAN	M	157;155;87	ENSP00000359864:L157M;ENSP00000444959:L87M	ENSP00000359864:L157M	L	-	1	2	GPC4	132286081	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.441000	0.66569	1.316000	0.45131	0.600000	0.82982	CTG		PASS	0.438	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		7	79	7	79	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135741406	135741406	+	Silent	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:135741406C>A	ENST00000370629.2	+	5	674	c.618C>A	c.(616-618)ctC>ctA	p.L206L	CD40LG_ENST00000370628.2_Silent_p.L185L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	206					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.L206L(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GAATCTTACTCAGAGCTGCAA	0.498									Immune Deficiency with Hyper-IgM																													uc004faa.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(616-618)CTC>CTA		CD40 ligand	Atorvastatin(DB01076)						223.0	216.0	218.0					X																	135741406		2203	4300	6503	SO:0001819	synonymous_variant	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741406C>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.618C>A	X.37:g.135741406C>A						CD40LG_uc010nsd.2_Silent_p.L185L	p.L206L	NM_000074	NP_000065	P29965	CD40L_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;0.000127)		206			Extracellular (Potential).			Silent	SNP	ENST00000370629.2	37	c.618C>A	CCDS14659.1																																																																																				PASS	0.498	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		7	89	7	89	---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139866047	139866047	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:139866047C>A	ENST00000370532.2	-	1	676	c.485G>T	c.(484-486)aGa>aTa	p.R162I		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	162	6 X 6 AA approximate repeats.							p.R162I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAATCCAAGTCTTCCGGATAA	0.448																																						uc004fbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)AGA>ATA		cerebellar degeneration-related protein 1,							137.0	143.0	141.0					X																	139866047		2202	4300	6502	SO:0001583	missense	1038							g.chrX:139866047C>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.485G>T	X.37:g.139866047C>A	ENSP00000359563:p.Arg162Ile					uc004fbf.1_RNA	p.R162I	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	677	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	162			4.|6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.485G>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851368	0.91355	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	T	0.50616	0.1626	N	0.08118	0	0.43122	D	0.994842	D	0.89917	1.0	D	0.81914	0.995	T	0.52852	-0.8520	7	.	.	.	.	13.9515	0.64121	0.0:1.0:0.0:0.0	.	162	P51861	CDR1_HUMAN	I	162	.	.	R	-	2	0	CDR1	139693713	0.935000	0.31712	0.804000	0.32291	0.560000	0.35617	1.359000	0.34113	2.083000	0.62718	0.422000	0.28245	AGA		PASS	0.448	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		27	56	27	56	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140993421	140993421	+	Missense_Mutation	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:140993421G>C	ENST00000285879.4	+	4	517	c.231G>C	c.(229-231)caG>caC	p.Q77H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	77								p.Q77H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCAGTCTCCTCTCC	0.592										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(229-231)CAG>CAC		melanoma antigen family C, 1							79.0	81.0	80.0					X																	140993421		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993421G>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.231G>C	X.37:g.140993421G>C	ENSP00000285879:p.Gln77His	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Q77H	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	517	+	Acute lymphoblastic leukemia(192;6.56e-05)		77					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.231G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	5.836	0.338504	0.11069	.	.	ENSG00000155495	ENST00000285879	T	0.02709	4.19	0.113	-0.226	0.13106	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.80722	D	1	P	0.50156	0.932	P	0.49332	0.607	T	0.61272	-0.7096	9	0.87932	D	0	.	4.515	0.11930	0.3225:0.0:0.6775:0.0	.	77	O60732	MAGC1_HUMAN	H	77	ENSP00000285879:Q77H	ENSP00000285879:Q77H	Q	+	3	2	MAGEC1	140821087	0.004000	0.15560	0.028000	0.17463	0.028000	0.11728	0.375000	0.20518	-1.191000	0.02695	-1.193000	0.01689	CAG		PASS	0.592	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		14	27	14	27	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147011672	147011672	+	Missense_Mutation	SNP	G	G	T			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:147011672G>T	ENST00000370475.4	+	7	667	c.539G>T	c.(538-540)cGa>cTa	p.R180L	FMR1_ENST00000370471.3_Missense_Mutation_p.R180L|FMR1_ENST00000334557.6_Missense_Mutation_p.R180L|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.R180L|FMR1_ENST00000370470.1_Missense_Mutation_p.R180L|FMR1_ENST00000370477.1_Missense_Mutation_p.R180L|FMR1_ENST00000218200.8_Missense_Mutation_p.R180L	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	180					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R180L(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCAAAGCGAGCACATATG	0.373									Fragile X syndrome																													uc010nst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(538-540)CGA>CTA		fragile X mental retardation 1							134.0	112.0	119.0					X																	147011672		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147011672G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.539G>T	X.37:g.147011672G>T	ENSP00000359506:p.Arg180Leu					FMR1_uc011mwz.1_Missense_Mutation_p.R180L|FMR1_uc004fcj.2_Missense_Mutation_p.R180L|FMR1_uc004fck.3_Missense_Mutation_p.R180L|FMR1_uc004fcl.3_Missense_Mutation_p.R41L|FMR1_uc011mxa.1_5'UTR	p.R180L	NM_002024	NP_002015	Q06787	FMR1_HUMAN			7	728	+	Acute lymphoblastic leukemia(192;6.56e-05)		180					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.539G>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503739	0.85176	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.63417	0.67;-0.04;0.75;0.68;1.09;0.72;0.77	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.82193	2.58	0.80722	D	1	B;P;D;D;D	0.89917	0.269;0.477;0.999;1.0;0.999	B;B;D;D;D	0.83275	0.178;0.362;0.977;0.989;0.996	D	0.84137	0.0415	10	0.72032	D	0.01	-22.7546	17.0099	0.86403	0.0:0.0:1.0:0.0	.	180;180;96;180;180	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	L	180	ENSP00000218200:R180L;ENSP00000359502:R180L;ENSP00000359508:R180L;ENSP00000359506:R180L;ENSP00000355115:R180L;ENSP00000395923:R180L;ENSP00000359501:R180L	ENSP00000218200:R180L	R	+	2	0	FMR1	146819364	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.679000	0.98649	2.312000	0.78011	0.600000	0.82982	CGA		PASS	0.373	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		5	57	5	57	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	147967502	147967502	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:147967502C>A	ENST00000370460.2	+	8	1825	c.1346C>A	c.(1345-1347)aCt>aAt	p.T449N	AFF2_ENST00000370458.1_Missense_Mutation_p.T410N|AFF2_ENST00000286437.5_Missense_Mutation_p.T90N|AFF2_ENST00000342251.3_Missense_Mutation_p.T416N|AFF2_ENST00000370457.5_Missense_Mutation_p.T416N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	449					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.T449N(2)|p.T90N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCACTGCCACTGAGCTCTAC	0.502																																						uc004fcp.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(1345-1347)ACT>AAT		fragile X mental retardation 2							221.0	190.0	201.0					X																	147967502		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147967502C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1346C>A	X.37:g.147967502C>A	ENSP00000359489:p.Thr449Asn					AFF2_uc004fco.2_Missense_Mutation_p.T410N|AFF2_uc004fcq.2_Missense_Mutation_p.T439N|AFF2_uc004fcr.2_Missense_Mutation_p.T410N|AFF2_uc011mxb.1_Missense_Mutation_p.T414N|AFF2_uc004fcs.2_Missense_Mutation_p.T416N|AFF2_uc011mxc.1_Missense_Mutation_p.T90N	p.T449N	NM_002025	NP_002016	P51816	AFF2_HUMAN			8	1825	+	Acute lymphoblastic leukemia(192;6.56e-05)		449					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1346C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463847	0.26335	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.71934	-0.02;-0.33;-0.33;0.84;-0.61	4.6	2.73	0.32206	.	0.143125	0.42548	N	0.000697	T	0.51907	0.1702	N	0.22421	0.69	0.24823	N	0.992574	B;B;B;B;B;B;B	0.18013	0.002;0.002;0.01;0.01;0.025;0.015;0.003	B;B;B;B;B;B;B	0.23574	0.012;0.007;0.015;0.015;0.038;0.047;0.003	T	0.32322	-0.9911	10	0.15952	T	0.53	.	8.8066	0.34941	0.4218:0.5782:0.0:0.0	.	90;414;416;410;439;449;410	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	N	449;416;416;410;90	ENSP00000359489:T449N;ENSP00000359486:T416N;ENSP00000345459:T416N;ENSP00000359487:T410N;ENSP00000286437:T90N	ENSP00000286437:T90N	T	+	2	0	AFF2	147775195	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.023000	0.30065	0.433000	0.26313	-0.232000	0.12228	ACT		PASS	0.502	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		6	74	6	74	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037297	148037297	+	Silent	SNP	G	G	T	rs201846826		TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:148037297G>T	ENST00000370460.2	+	11	2201	c.1722G>T	c.(1720-1722)acG>acT	p.T574T	AFF2_ENST00000286437.5_Silent_p.T215T|AFF2_ENST00000342251.3_Silent_p.T541T|AFF2_ENST00000370457.5_Silent_p.T541T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	574					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.T574T(2)|p.T215T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGAAGACGAATGCCAGTC	0.473																																						uc004fcp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(1720-1722)ACG>ACT		fragile X mental retardation 2							165.0	169.0	168.0					X																	148037297		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037297G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1722G>T	X.37:g.148037297G>T						AFF2_uc004fcq.2_Silent_p.T564T|AFF2_uc004fcr.2_Silent_p.T535T|AFF2_uc011mxb.1_Silent_p.T539T|AFF2_uc004fcs.2_Silent_p.T541T|AFF2_uc011mxc.1_Silent_p.T215T	p.T574T	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2201	+	Acute lymphoblastic leukemia(192;6.56e-05)		574					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1722G>T	CCDS14684.1																																																																																				PASS	0.473	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		5	89	5	89	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148690401	148690401	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:148690401C>A	ENST00000316916.8	-	3	640	c.336G>T	c.(334-336)tgG>tgT	p.W112C	TMEM185A_ENST00000507237.1_Missense_Mutation_p.W112C|TMEM185A_ENST00000536359.1_Missense_Mutation_p.W53C	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	112						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.W112C(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGACCAGGAGCCAGAAATGGC	0.483																																						uc011mxq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)TGG>TGT		transmembrane protein 185A							182.0	171.0	175.0					X																	148690401		2202	4299	6501	SO:0001583	missense	84548					integral to membrane		g.chrX:148690401C>A	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.336G>T	X.37:g.148690401C>A	ENSP00000359449:p.Trp112Cys					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.W53C|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.W29C	p.W112C	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN			4	647	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		112			Helical; (Potential).		B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.336G>T	CCDS14689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.364445|4.364445	0.82463|0.82463	.|.	.|.	ENSG00000155984|ENSG00000155984	ENST00000502858|ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776	.|T;T;T;T	.|0.35605	.|1.3;1.3;1.3;1.3	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63082|0.63082	0.2481|0.2481	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.87578	.|0.998;0.935;0.997	T|T	0.67914|0.67914	-0.5547|-0.5547	5|10	.|0.87932	.|D	.|0	-4.7801|-4.7801	17.2137|17.2137	0.86937|0.86937	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|112;53;112	.|Q8NFB2;F5H5U0;E7EMM1	.|T185A_HUMAN;.;.	V|C	13|112;53;112;53	.|ENSP00000359449:W112C;ENSP00000443119:W53C;ENSP00000427766:W112C;ENSP00000428659:W53C	.|ENSP00000359449:W112C	G|W	-|-	2|3	0|0	TMEM185A|TMEM185A	148498197|148498197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.438000|7.438000	0.80431|0.80431	2.275000|2.275000	0.75901|0.75901	0.513000|0.513000	0.50165|0.50165	GGC|TGG		PASS	0.483	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		16	29	16	29	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911689	150911689	+	Silent	SNP	G	G	C			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrX:150911689G>C	ENST00000329903.4	+	6	747	c.714G>C	c.(712-714)gtG>gtC	p.V238V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	238					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.V238V(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTGCTGTGGACATCCACA	0.517																																						uc004fey.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(712-714)GTG>GTC		cyclic nucleotide gated channel alpha 2							160.0	116.0	131.0					X																	150911689		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911689G>C	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.714G>C	X.37:g.150911689G>C							p.V238V	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	938	+	Acute lymphoblastic leukemia(192;6.56e-05)		238			Helical; Name=H3; (Potential).		A0AVD0	Silent	SNP	ENST00000329903.4	37	c.714G>C	CCDS14701.1																																																																																				PASS	0.517	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		3	42	3	42	---	---	---	---
USP9Y	8287	broad.mit.edu	37	Y	14959215	14959215	+	Missense_Mutation	SNP	C	C	A			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chrY:14959215C>A	ENST00000338981.3	+	42	7972	c.7027C>A	c.(7027-7029)Caa>Aaa	p.Q2343K	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2343					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.Q2343K(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTACTTTTCCAAATTTTACT	0.333																																						uc004fst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7027-7029)CAA>AAA		ubiquitin specific protease 9, Y-linked																																				SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14959215C>A	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.7027C>A	Y.37:g.14959215C>A	ENSP00000342812:p.Gln2343Lys					USP9Y_uc010nwu.1_RNA	p.Q2343K	NM_004654	NP_004645	O00507	USP9Y_HUMAN			42	7972	+			2343					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.7027C>A	CCDS14781.1																																																																																				PASS	0.333	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		6	74	6	74	---	---	---	---
CD9	928	broad.mit.edu	37	12	6341859	6341859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr12:6341859delC	ENST00000382518.1	+	4	673	c.237delC	c.(235-237)tgcfs	p.C79fs	CD9_ENST00000009180.4_Frame_Shift_Del_p.C79fs|CD9_ENST00000382515.2_Frame_Shift_Del_p.C10fs|CD9_ENST00000481267.1_3'UTR|Y_RNA_ENST00000365448.1_RNA			P21926	CD9_HUMAN	CD9 molecule	79					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TGGGCTGCTGCGGGGCTGTGC	0.622																																						uc001qnp.1																			0				ovary(1)	1						c.(235-237)TGCfs		CD9 antigen							35.0	33.0	33.0					12																	6341859		2200	4297	6497	SO:0001589	frameshift_variant	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6341859delC	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.237delC	12.37:g.6341859delC	ENSP00000371958:p.Cys79fs					CD9_uc010seu.1_Frame_Shift_Del_p.C79fs|CD9_uc010sev.1_Frame_Shift_Del_p.C79fs|CD9_uc001qnq.1_Frame_Shift_Del_p.C79fs	p.C79fs	NM_001769	NP_001760	P21926	CD9_HUMAN			4	681	+			79	C->A: Loss of palmitoylation; when associated with A-9; A-78; A-87; A-218 and A-219.		Cytoplasmic (Potential).		D3DUQ9|Q5J7W6|Q96ES4	Frame_Shift_Del	DEL	ENST00000382518.1	37	c.237delC	CCDS8540.1																																																																																					0.622	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			4	2	4	2	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22833557	22833557	+	Frame_Shift_Del	DEL	G	G	-			TCGA-85-6561-01A-11D-1817-08	TCGA-85-6561-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f5aa0f1c-da19-4c04-b695-01ed5b20e79e	171b9599-597b-4907-b8f6-6ec380460f02	g.chr15:22833557delG	ENST00000283645.4	+	1	163	c.33delG	c.(31-33)ttgfs	p.L11fs	TUBGCP5_ENST00000453949.2_Frame_Shift_Del_p.L11fs	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	11					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAGTCGGTTGGACGCGCAGC	0.701																																						uc001yur.3																			0				skin(1)	1						c.(31-33)TTGfs		tubulin, gamma complex associated protein 5							9.0	10.0	9.0					15																	22833557		2132	4232	6364	SO:0001589	frameshift_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22833557delG	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.33delG	15.37:g.22833557delG	ENSP00000283645:p.Leu11fs					TUBGCP5_uc001yuq.2_Frame_Shift_Del_p.L11fs	p.L11fs	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	1	163	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	11					E9PB12|Q6IQ52|Q96PY8	Frame_Shift_Del	DEL	ENST00000283645.4	37	c.33delG	CCDS10008.1																																																																																					0.701	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		4	2	4	2	---	---	---	---
