#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
PRKCZ	5590	broad.mit.edu	37	1	2077516	2077516	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:2077516C>T	ENST00000400921.2	+	4	737	c.54C>T	c.(52-54)gaC>gaT	p.D18D	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.D18D|RP5-892K4.1_ENST00000606533.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	201	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D201D(2)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	AGAACGAGGACGCCGACCTTC	0.582																																						uc001aiq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|large_intestine(2)	6						c.(601-603)GAC>GAT		protein kinase C, zeta isoform 1							99.0	77.0	84.0					1																	2077516		2203	4300	6503	SO:0001819	synonymous_variant	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2077516C>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.54C>T	1.37:g.2077516C>T						PRKCZ_uc001air.2_Silent_p.D18D|PRKCZ_uc010nyw.1_Silent_p.D97D|PRKCZ_uc001ais.2_Silent_p.D18D|PRKCZ_uc009vla.2_Silent_p.D25D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.D14D	p.D201D	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	7	764	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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)	201					A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	c.603C>T	CCDS41229.1																																																																																				PASS	0.582	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		15	72	15	72	---	---	---	---
AGTRAP	57085	broad.mit.edu	37	1	11807558	11807558	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:11807558G>A	ENST00000314340.5	+	3	178	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	AGTRAP_ENST00000376629.4_Missense_Mutation_p.V42M|AGTRAP_ENST00000452018.2_Missense_Mutation_p.R74H|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376627.2_Missense_Mutation_p.R86H|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000400895.2_Missense_Mutation_p.R74H|AGTRAP_ENST00000376637.3_Missense_Mutation_p.R30H	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	42					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)	p.V42M(1)	AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTTGGGCGTGTGGGCTGT	0.642																																						uc001asv.2																		AGTRAP/BRAF(2)	1	Substitution - Missense(1)		lung(1)	stomach(2)	2						c.(124-126)GTG>ATG		angiotensin II receptor-associated protein							146.0	144.0	145.0					1																	11807558		2203	4300	6503	SO:0001583	missense	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11807558G>A	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.124G>A	1.37:g.11807558G>A	ENSP00000319713:p.Val42Met					AGTRAP_uc001ast.2_Missense_Mutation_p.R74H|AGTRAP_uc001asu.2_Missense_Mutation_p.R74H|AGTRAP_uc001asw.2_Missense_Mutation_p.V42M|AGTRAP_uc001asx.2_Missense_Mutation_p.R30H	p.V42M	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	248	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	42			Helical; (Potential).		A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	c.124G>A	CCDS136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956318|3.956318	0.73902|0.73902	.|.	.|.	ENSG00000177674|ENSG00000177674	ENST00000376637;ENST00000400895;ENST00000376627;ENST00000452018|ENST00000376629;ENST00000314340	T;T;T;T|T;T	0.25085|0.53423	1.82;1.82;1.82;1.82|0.62;0.62	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.085844	.|0.44688	.|U	.|0.000434	T|T	0.69593|0.69593	0.3128|0.3128	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|D;D	0.89917|0.89917	0.999;1.0;1.0|1.0;1.0	P;P;P|D;D	0.60682|0.76575	0.804;0.878;0.878|0.964;0.988	T|T	0.73795|0.73795	-0.3870|-0.3870	8|9	0.87932|0.72032	D|D	0|0.01	-6.8678|-6.8678	16.1617|16.1617	0.81721|0.81721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	30;74;74|42;42	Q6RW13-4;Q6RW13-5;Q6RW13-3|Q6RW13-2;Q6RW13	.;.;.|.;ATRAP_HUMAN	H|M	30;74;86;74|42	ENSP00000365824:R30H;ENSP00000383688:R74H;ENSP00000365814:R86H;ENSP00000408505:R74H|ENSP00000365816:V42M;ENSP00000319713:V42M	ENSP00000365814:R86H|ENSP00000319713:V42M	R|V	+|+	2|1	0|0	AGTRAP|AGTRAP	11730145|11730145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	6.756000|6.756000	0.74919|0.74919	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	CGT|GTG		PASS	0.642	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		5	195	5	195	---	---	---	---
RNF186	54546	broad.mit.edu	37	1	20141183	20141183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:20141183C>A	ENST00000375121.2	-	1	588	c.412G>T	c.(412-414)Gga>Tga	p.G138*	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	138						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G138*(1)		kidney(1)|lung(3)|urinary_tract(1)	5		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;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCCTCTCCCACCAAGCTG	0.637																																						uc001bcr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(412-414)GGA>TGA		ring finger protein 186							76.0	92.0	86.0					1																	20141183		2203	4300	6503	SO:0001587	stop_gained	54546					integral to membrane	zinc ion binding	g.chr1:20141183C>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.412G>T	1.37:g.20141183C>A	ENSP00000364263:p.Gly138*						p.G138*	NM_019062	NP_061935	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	589	-		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;0.0439)	138					Q53GE0	Nonsense_Mutation	SNP	ENST00000375121.2	37	c.412G>T	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060921	0.76074	.	.	ENSG00000178828	ENST00000375121	.	.	.	5.71	4.79	0.61399	.	0.202250	0.30252	N	0.010052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.5	13.9382	0.64039	0.153:0.847:0.0:0.0	.	.	.	.	X	138	.	ENSP00000364263:G138X	G	-	1	0	RNF186	20013770	0.015000	0.18098	0.264000	0.24511	0.153000	0.21895	2.653000	0.46691	1.391000	0.46566	0.655000	0.94253	GGA		PASS	0.637	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		50	31	50	31	---	---	---	---
GPATCH3	63906	broad.mit.edu	37	1	27226883	27226883	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:27226883C>T	ENST00000361720.5	-	1	74	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	17							nucleic acid binding (GO:0003676)	p.V17V(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGATACCGCTCACTACCAGGT	0.597																																						uc001bne.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)GTG>GTA		G patch domain containing 3							41.0	40.0	41.0					1																	27226883		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27226883C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.51G>A	1.37:g.27226883C>T						GPATCH3_uc009vsp.1_5'UTR	p.V17V	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	80	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	17					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.51G>A	CCDS290.1																																																																																				PASS	0.597	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		37	30	37	30	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66087122	66087122	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:66087122T>A	ENST00000349533.6	+	18	2763	c.2578T>A	c.(2578-2580)Tta>Ata	p.L860I	LEPR_ENST00000371059.3_Missense_Mutation_p.L860I|LEPR_ENST00000344610.8_Missense_Mutation_p.L860I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.L860I|LEPR_ENST00000371058.1_Missense_Mutation_p.L860I	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.L860I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTTGGAACATTATTAATATC	0.323																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(2578-2580)TTA>ATA		leptin receptor isoform 1							146.0	136.0	140.0					1																	66087122		2203	4296	6499	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66087122T>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2578T>A	1.37:g.66087122T>A	ENSP00000330393:p.Leu860Ile					LEPR_uc001dcg.2_Missense_Mutation_p.L860I|LEPR_uc001dch.2_Missense_Mutation_p.L860I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L860I|LEPR_uc001dck.2_Missense_Mutation_p.L860I	p.L860I	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	18	2780	+			860			Helical; (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2578T>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.518025	0.27211	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.71698	-0.35;-0.54;-0.34;-0.59;-0.35	5.13	-1.36	0.09085	.	0.073728	0.56097	D	0.000025	T	0.65933	0.2739	M	0.73962	2.25	0.80722	D	1	D;D;D	0.58970	0.973;0.984;0.965	P;P;P	0.58130	0.685;0.833;0.753	T	0.66118	-0.6003	10	0.48119	T	0.1	-10.7817	7.1225	0.25453	0.1306:0.4764:0.0:0.393	.	860;860;860	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	I	860	ENSP00000340884:L860I;ENSP00000330393:L860I;ENSP00000360099:L860I;ENSP00000360098:L860I;ENSP00000360097:L860I	ENSP00000340884:L860I	L	+	1	2	LEPR	65859710	0.000000	0.05858	0.338000	0.25549	0.030000	0.12068	-0.689000	0.05144	-0.447000	0.07138	-1.039000	0.02377	TTA		PASS	0.323	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		40	46	40	46	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89448597	89448597	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:89448597C>A	ENST00000321792.5	-	2	1340	c.913G>T	c.(913-915)Ggt>Tgt	p.G305C	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G305C|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	305	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G305C(2)									CTGCTTCCACCATAAGATGGC	0.473																																						uc009wcx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(913-915)GGT>TGT		RNA binding motif protein, X-linked-like 1							175.0	176.0	176.0					1																	89448597		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448597C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.913G>T	1.37:g.89448597C>A	ENSP00000318415:p.Gly305Cys					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.G305C	p.G305C	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1629	-			305			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.913G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934550	0.52866	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.94046	-3.34;-3.34	1.65	1.65	0.23941	.	0.058395	0.64402	D	0.000001	D	0.93756	0.8004	M	0.69823	2.125	0.32268	N	0.569284	D	0.89917	1.0	D	0.97110	1.0	D	0.90850	0.4730	10	0.87932	D	0	-9.6459	8.8848	0.35396	0.0:1.0:0.0:0.0	.	305	Q96E39	RBMXL_HUMAN	C	305	ENSP00000318415:G305C;ENSP00000446099:G305C	ENSP00000318415:G305C	G	-	1	0	RBMXL1	89221185	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	3.214000	0.51161	0.916000	0.36871	0.306000	0.20318	GGT		PASS	0.473	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		114	102	114	102	---	---	---	---
SLC30A7	148867	broad.mit.edu	37	1	101383663	101383663	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:101383663C>A	ENST00000370112.4	+	7	873	c.686C>A	c.(685-687)cCc>cAc	p.P229H	SLC30A7_ENST00000357650.4_Missense_Mutation_p.P229H	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	229					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.P229H(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)		ACAACAGGACCCAGCAGACAG	0.313																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CCC>CAC		zinc transporter like 2							79.0	82.0	81.0					1																	101383663		2203	4298	6501	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101383663C>A	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.686C>A	1.37:g.101383663C>A	ENSP00000359130:p.Pro229His					SLC30A7_uc001dto.2_Missense_Mutation_p.P229H	p.P229H	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)	7	873	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	229			Cytoplasmic (Potential).		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.686C>A	CCDS776.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823490	0.50739	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.62105	0.05;0.05	5.53	5.53	0.82687	.	0.098122	0.64402	D	0.000001	T	0.28797	0.0714	N	0.00380	-1.58	0.44531	D	0.99748	P	0.52061	0.95	P	0.51355	0.667	T	0.59016	-0.7533	10	0.31617	T	0.26	-6.8968	19.8195	0.96586	0.0:1.0:0.0:0.0	.	229	Q8NEW0	ZNT7_HUMAN	H	229	ENSP00000359130:P229H;ENSP00000350278:P229H	ENSP00000350278:P229H	P	+	2	0	SLC30A7	101156251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.971000	0.70440	2.756000	0.94617	0.655000	0.94253	CCC		PASS	0.313	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		41	46	41	46	---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119575589	119575589	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:119575589T>C	ENST00000235521.4	-	6	1054	c.1028A>G	c.(1027-1029)aAa>aGa	p.K343R	WARS2_ENST00000537870.1_Missense_Mutation_p.K249R|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	343					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.K343R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TGCTAATTCTTTGGCTTTTGC	0.413																																						uc001ehn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)AAA>AGA		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						97.0	98.0	97.0					1																	119575589		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575589T>C	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.1028A>G	1.37:g.119575589T>C	ENSP00000235521:p.Lys343Arg					WARS2_uc010oxf.1_Missense_Mutation_p.K249R|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.K286R|WARS2_uc010oxh.1_3'UTR	p.K343R	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	1056	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	343					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.1028A>G	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	4.434	0.080392	0.08533	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.27256	1.68;1.68	6.17	3.81	0.43845	.	0.241583	0.49305	N	0.000154	T	0.01870	0.0059	N	0.00991	-1.07	0.35147	D	0.769415	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44772	-0.9306	10	0.02654	T	1	-9.2572	10.1423	0.42742	0.0:0.1411:0.0:0.8589	.	286;343	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	R	343;249	ENSP00000235521:K343R;ENSP00000438807:K249R	ENSP00000235521:K343R	K	-	2	0	WARS2	119377112	1.000000	0.71417	0.980000	0.43619	0.902000	0.53008	1.818000	0.39012	0.530000	0.28619	-0.408000	0.06270	AAA		PASS	0.413	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		64	65	64	65	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280813	152280813	+	Missense_Mutation	SNP	C	C	G	rs375300227		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:152280813C>G	ENST00000368799.1	-	3	6584	c.6549G>C	c.(6547-6549)caG>caC	p.Q2183H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2183	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.Q2183H(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)			TGGATCCTGACTGCCCACGGG	0.537									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6547-6549)CAG>CAC		filaggrin		C	HIS/GLN	0,4406		0,0,2203	457.0	390.0	413.0		6549	-5.2	0.0	1		413	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	24	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	2183/4062	152280813	1,13005	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.chr1:152280813C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6549G>C	1.37:g.152280813C>G	ENSP00000357789:p.Gln2183His						p.Q2183H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6585	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2183			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6549G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	1.109	-0.658797	0.03454	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.03524	3.9	2.62	-5.24	0.02789	.	.	.	.	.	T	0.00754	0.0025	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	9	0.41790	T	0.15	.	1.4515	0.02376	0.1393:0.3154:0.3153:0.2301	.	2183	P20930	FILA_HUMAN	H	2183	ENSP00000357789:Q2183H	ENSP00000357789:Q2183H	Q	-	3	2	FLG	150547437	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.150000	0.00043	-2.324000	0.00638	-1.402000	0.01139	CAG		PASS	0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	608	15	608	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158651325	158651325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:158651325C>A	ENST00000368147.4	-	4	703	c.523G>T	c.(523-525)Gga>Tga	p.G175*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	175					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.G175*(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)					ACCTTGTCTCCAATCCACTCT	0.517																																						uc001fst.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(523-525)GGA>TGA		spectrin, alpha, erythrocytic 1							297.0	296.0	296.0					1																	158651325		2028	4186	6214	SO:0001587	stop_gained	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.chr1:158651325C>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.523G>T	1.37:g.158651325C>A	ENSP00000357129:p.Gly175*						p.G175*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	722	-	all_hematologic(112;0.0378)		175			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.523G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304579	0.95601	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.15	-2.6	0.06190	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.2229	0.54443	0.0:0.1874:0.0:0.8126	.	.	.	.	X	175	.	ENSP00000357129:G175X	G	-	1	0	SPTA1	156917949	0.731000	0.28111	0.024000	0.17045	0.880000	0.50808	0.733000	0.26087	-0.333000	0.08476	0.563000	0.77884	GGA		PASS	0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		373	184	373	184	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175318	159175318	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:159175318A>G	ENST00000368122.2	+	2	768	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.Y32C|DARC_ENST00000537147.1_Missense_Mutation_p.Y30C	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		30					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y32C(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AATTCTTCCTATGGTGTGAAT	0.547																																						uc001fto.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(88-90)TAT>TGT		Duffy blood group antigen isoform b							93.0	90.0	91.0					1																	159175318		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175318A>G																												ENST00000368122.2:c.89A>G	1.37:g.159175318A>G	ENSP00000357104:p.Tyr30Cys					DARC_uc001ftp.3_Missense_Mutation_p.Y32C	p.Y30C	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	329	+	all_hematologic(112;0.0429)		30			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.89A>G	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.067101	0.36470	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.27104	4.19;4.19;1.69;4.12	3.07	-3.18	0.05186	.	.	.	.	.	T	0.14184	0.0343	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.05599	-1.0875	9	0.59425	D	0.04	-8.4514	3.376	0.07238	0.3241:0.0:0.1314:0.5445	.	32;30	Q5Y7A1;Q16570	.;DUFFY_HUMAN	C	30;30;30;32;32	ENSP00000357104:Y30C;ENSP00000441985:Y30C;ENSP00000398406:Y32C;ENSP00000357103:Y32C	ENSP00000352341:Y30C	Y	+	2	0	DARC	157441942	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.145000	0.01295	-0.636000	0.05524	0.459000	0.35465	TAT		PASS	0.547	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			74	37	74	37	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159897217	159897217	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:159897217C>T	ENST00000368094.1	-	21	3655	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R1137H|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000320307.4_5'Flank|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1153					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R1137H(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGCGGCGGCGGAAGGCCAG	0.637																																						uc001fur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(3457-3459)CGC>CAC		immunoglobulin superfamily, member 9 isoform a							46.0	51.0	49.0					1																	159897217		2203	4298	6501	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159897217C>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3458G>A	1.37:g.159897217C>T	ENSP00000357073:p.Arg1153His					IGSF9_uc001fuq.2_Missense_Mutation_p.R1137H|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.R299H	p.R1153H	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		21	3656	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	1153			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.3458G>A	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636904	0.87760	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.78924	-1.22;-1.15	5.52	4.61	0.57282	.	0.000000	0.41396	D	0.000893	T	0.70561	0.3238	L	0.27053	0.805	0.34761	D	0.732773	D;P	0.71674	0.998;0.736	D;B	0.72075	0.976;0.099	T	0.72893	-0.4154	9	.	.	.	-17.1505	10.4982	0.44789	0.0:0.9099:0.0:0.0901	.	1153;691	Q9P2J2;C9JI81	TUTLA_HUMAN;.	H	1137;1153;691	ENSP00000355049:R1137H;ENSP00000357073:R1153H	.	R	-	2	0	IGSF9	158163841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.291000	0.59025	1.340000	0.45581	0.563000	0.77884	CGC		PASS	0.637	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		18	86	18	86	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254154	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:161254154G>A	ENST00000504449.1	+	3	338	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	30								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGG	0.488																																						uc001gad.2																			2	Substitution - coding silent(1)|Deletion - In frame(1)		large_intestine(1)|lung(1)		0						c.(88-90)GCG>GCA		Purkinje cell protein 4 like 1							102.0	98.0	99.0					1																	161254154		1964	4146	6110	SO:0001819	synonymous_variant	654790							g.chr1:161254154G>A	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90G>A	1.37:g.161254154G>A							p.A30A	NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	Silent	SNP	ENST00000504449.1	37	c.90G>A	CCDS53412.1																																																																																				PASS	0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			19	124	19	124	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165376129	165376129	+	Silent	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:165376129A>G	ENST00000359842.5	-	9	1466	c.1164T>C	c.(1162-1164)tcT>tcC	p.S388S		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	388	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S388S(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TCTCCACCTCAGAGGGGTTGG	0.547																																						uc001gda.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1162-1164)TCT>TCC		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						122.0	102.0	109.0					1																	165376129		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165376129A>G	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1164T>C	1.37:g.165376129A>G							p.S388S	NM_006917	NP_008848	P48443	RXRG_HUMAN			9	1464	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		388			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.1164T>C	CCDS1248.1																																																																																				PASS	0.547	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		82	49	82	49	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165386326	165386326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:165386326G>A	ENST00000359842.5	-	4	876	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	192					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q192*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CGACAGTACTGGCAGCGGTTG	0.507																																						uc001gda.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(574-576)CAG>TAG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						115.0	101.0	106.0					1																	165386326		2203	4300	6503	SO:0001587	stop_gained	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165386326G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.574C>T	1.37:g.165386326G>A	ENSP00000352900:p.Gln192*						p.Q192*	NM_006917	NP_008848	P48443	RXRG_HUMAN			4	874	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		192			NR C4-type.|Nuclear receptor.		A6NIP1|Q6IBU7	Nonsense_Mutation	SNP	ENST00000359842.5	37	c.574C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	40	8.198383	0.98701	.	.	ENSG00000143171	ENST00000359842	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9732	0.86306	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000352900:Q192X	Q	-	1	0	RXRG	163652950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.336000	0.96533	2.565000	0.86533	0.655000	0.94253	CAG		PASS	0.507	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		44	62	44	62	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173931198	173931198	+	Missense_Mutation	SNP	G	G	A	rs372479139		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:173931198G>A	ENST00000367696.2	-	12	2218	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	RC3H1_ENST00000367694.2_Missense_Mutation_p.R623C|RC3H1_ENST00000258349.4_Missense_Mutation_p.R623C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	623	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.R623C(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						CGGACAAAGCGGGACACACAT	0.438																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1867-1869)CGC>TGC		roquin							103.0	95.0	98.0					1																	173931198		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.chr1:173931198G>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.1867C>T	1.37:g.173931198G>A	ENSP00000356669:p.Arg623Cys					RC3H1_uc010pms.1_Missense_Mutation_p.R623C|RC3H1_uc001gjv.2_Missense_Mutation_p.R623C|RC3H1_uc010pmt.1_Missense_Mutation_p.R623C	p.R623C	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			11	1954	-			623			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1867C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148354	0.78001	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.50001	0.76;0.76;0.76	5.61	4.7	0.59300	.	0.378221	0.33199	N	0.005171	T	0.54919	0.1888	L	0.58101	1.795	0.80722	D	1	P;D;P;P	0.89917	0.703;1.0;0.803;0.703	B;D;B;B	0.69654	0.071;0.965;0.15;0.071	T	0.62224	-0.6899	10	0.87932	D	0	-8.9407	14.7001	0.69150	0.0698:0.0:0.9302:0.0	.	623;623;623;623	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	C	623	ENSP00000356669:R623C;ENSP00000258349:R623C;ENSP00000356667:R623C	ENSP00000258349:R623C	R	-	1	0	RC3H1	172197821	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.472000	0.66768	1.353000	0.45828	0.650000	0.86243	CGC		PASS	0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		17	98	17	98	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175355405	175355405	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:175355405C>A	ENST00000367674.2	-	8	2248	c.1540G>T	c.(1540-1542)Gat>Tat	p.D514Y	TNR_ENST00000263525.2_Missense_Mutation_p.D514Y			Q92752	TENR_HUMAN	tenascin R	514	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.D514Y(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCGAGACATCGCGAACCAGG	0.507																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1540-1542)GAT>TAT		tenascin R precursor							34.0	37.0	36.0					1																	175355405		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355405C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1540G>T	1.37:g.175355405C>A	ENSP00000356646:p.Asp514Tyr					TNR_uc009wwu.1_Missense_Mutation_p.D514Y	p.D514Y	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1621	-	Renal(580;0.146)		514			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1540G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754841	0.89843	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58940	0.3;0.3	5.68	5.68	0.88126	Fibronectin, type III (4);	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80999	-0.1131	10	0.87932	D	0	.	19.3874	0.94563	0.0:1.0:0.0:0.0	.	514	Q92752	TENR_HUMAN	Y	514	ENSP00000356646:D514Y;ENSP00000263525:D514Y	ENSP00000263525:D514Y	D	-	1	0	TNR	173622028	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.187000	0.77730	2.660000	0.90430	0.650000	0.86243	GAT		PASS	0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		4	73	4	73	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177225101	177225101	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:177225101G>C	ENST00000361539.4	+	3	628	c.316G>C	c.(316-318)Gac>Cac	p.D106H		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	106	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.D106H(1)									GGAAAGGAAGGACTTCTTCAG	0.498											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(316-318)GAC>CAC		family with sequence similarity 5, member B							122.0	108.0	112.0					1																	177225101		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177225101G>C		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.316G>C	1.37:g.177225101G>C	ENSP00000354481:p.Asp106His		OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1937	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank	p.D106H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			3	628	+			106					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.316G>C	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508281	0.85282	.	.	ENSG00000198797	ENST00000361539	D	0.84589	-1.87	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.055961	0.64402	D	0.000002	D	0.90229	0.6945	M	0.73598	2.24	0.80722	D	1	D	0.61080	0.989	P	0.59948	0.866	D	0.90750	0.4656	10	0.66056	D	0.02	-31.5819	12.6371	0.56689	0.0762:0.0:0.9238:0.0	.	106	Q9C0B6	FAM5B_HUMAN	H	106	ENSP00000354481:D106H	ENSP00000354481:D106H	D	+	1	0	FAM5B	175491724	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.642000	0.89623	0.650000	0.86243	GAC		PASS	0.498	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		23	103	23	103	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186034406	186034406	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:186034406G>T	ENST00000271588.4	+	49	7779	c.7550G>T	c.(7549-7551)gGg>gTg	p.G2517V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2517V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2517	Ig-like C2-type 23.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G2517V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACAAAGATGGGCAGCCCCTC	0.398																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(7549-7551)GGG>GTG		hemicentin 1 precursor							63.0	61.0	62.0					1																	186034406		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186034406G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7550G>T	1.37:g.186034406G>T	ENSP00000271588:p.Gly2517Val						p.G2517V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			49	7779	+			2517			Ig-like C2-type 23.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7550G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466118	0.84425	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79749	-1.3;-1.3	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93475	0.7918	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95150	0.8272	10	0.87932	D	0	.	19.4557	0.94886	0.0:0.0:1.0:0.0	.	2517	Q96RW7	HMCN1_HUMAN	V	2517	ENSP00000271588:G2517V;ENSP00000356462:G2517V	ENSP00000271588:G2517V	G	+	2	0	HMCN1	184301029	1.000000	0.71417	0.966000	0.40874	0.694000	0.40290	9.432000	0.97498	2.587000	0.87381	0.561000	0.74099	GGG		PASS	0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	21	34	21	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186919850	186919850	+	Missense_Mutation	SNP	C	C	G	rs370896190		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:186919850C>G	ENST00000367466.3	+	13	1478	c.1326C>G	c.(1324-1326)caC>caG	p.H442Q	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.H382Q	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	442	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		H -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.H442Q(3)		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)	ATGAATCACACGAACCCAAAG	0.398																																						uc001gsc.2																			3	Substitution - Missense(3)	p.H442Q(1)	ovary(1)|lung(1)|breast(1)	lung(2)|breast(1)	3						c.(1324-1326)CAC>CAG		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						60.0	57.0	58.0					1																	186919850		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.chr1:186919850C>G	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.1326C>G	1.37:g.186919850C>G	ENSP00000356436:p.His442Gln					PLA2G4A_uc010pos.1_Missense_Mutation_p.H382Q	p.H442Q	NM_024420	NP_077734	P47712	PA24A_HUMAN			13	1531	+			442		H -> Q (in a breast cancer sample; somatic mutation).	PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1326C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.583011	0.00872	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04049	3.72;3.72	6.07	-7.53	0.01336	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.225766	0.48286	N	0.000186	T	0.01061	0.0035	N	0.01048	-1.04	0.22171	N	0.999316	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38824	-0.9643	10	0.11182	T	0.66	-10.6744	7.2366	0.26074	0.2647:0.106:0.5319:0.0974	.	382;442	E7EU42;P47712	.;PA24A_HUMAN	Q	442;382	ENSP00000356436:H442Q;ENSP00000406892:H382Q	ENSP00000356436:H442Q	H	+	3	2	PLA2G4A	185186473	0.568000	0.26635	0.773000	0.31616	0.409000	0.31022	-0.257000	0.08745	-1.360000	0.02172	-3.496000	0.00033	CAC		PASS	0.398	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		14	109	14	109	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208219238	208219238	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:208219238C>T	ENST00000367033.3	-	18	4237	c.3480G>A	c.(3478-3480)tcG>tcA	p.S1160S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1160	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.S1160S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAATGATGGGCGATCCTGGCT	0.537																																						uc001hgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3478-3480)TCG>TCA		plexin A2 precursor							119.0	118.0	119.0					1																	208219238		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208219238C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3480G>A	1.37:g.208219238C>T							p.S1160S	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	18	4238	-			1160			IPT/TIG 4.|Extracellular (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.3480G>A	CCDS31013.1																																																																																				PASS	0.537	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		31	173	31	173	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216500970	216500970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:216500970G>A	ENST00000307340.3	-	5	1197	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q271*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q271*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	271	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.Q271*(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)		CGAAAATCTTGCATTCTTCCG	0.358										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.(811-813)CAA>TAA		usherin isoform B							154.0	146.0	149.0					1																	216500970		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.chr1:216500970G>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.811C>T	1.37:g.216500970G>A	ENSP00000305941:p.Gln271*	HNSCC(13;0.011)				USH2A_uc001hkv.2_Nonsense_Mutation_p.Q271*	p.Q271*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	5	1198	-			271			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.811C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	42	9.514452	0.99192	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.52	5.52	0.82312	.	0.000000	0.40144	U	0.001169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4517	0.94871	0.0:0.0:1.0:0.0	.	.	.	.	X	271	.	ENSP00000305941:Q271X	Q	-	1	0	USH2A	214567593	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.937000	0.92936	2.609000	0.88269	0.563000	0.77884	CAA		PASS	0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		110	56	110	56	---	---	---	---
ACBD3	64746	broad.mit.edu	37	1	226352579	226352579	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:226352579C>A	ENST00000366812.5	-	3	534	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	160	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.E160D(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GCTTGACAAACTCCACCATGG	0.408																																						uc001hpy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GAG>GAT		acyl-Coenzyme A binding domain containing 3							145.0	125.0	132.0					1																	226352579		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352579C>A	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.480G>T	1.37:g.226352579C>A	ENSP00000355777:p.Glu160Asp						p.E160D	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	527	-	Breast(184;0.158)		160			ACB.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.480G>T	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760052	0.49468	.	.	ENSG00000182827	ENST00000366812	T	0.50277	0.75	5.9	1.97	0.26223	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.044396	0.85682	D	0.000000	T	0.38214	0.1032	L	0.45051	1.395	0.54753	D	0.999987	B	0.27229	0.172	B	0.34652	0.187	T	0.06881	-1.0802	10	0.12430	T	0.62	-13.006	10.2503	0.43364	0.0:0.6517:0.0:0.3483	.	160	Q9H3P7	GCP60_HUMAN	D	160	ENSP00000355777:E160D	ENSP00000355777:E160D	E	-	3	2	ACBD3	224419202	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.010000	0.29898	0.115000	0.18071	0.591000	0.81541	GAG		PASS	0.408	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		3	152	3	152	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567639	229567639	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:229567639C>A	ENST00000366684.3	-	6	921	c.819G>T	c.(817-819)tcG>tcT	p.S273S	ACTA1_ENST00000366683.2_Silent_p.S185S	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	273					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.S273S(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GAATGCCCGCCGACTCCATAC	0.682																																						uc001htm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(817-819)TCG>TCT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						99.0	91.0	94.0					1																	229567639		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567639C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.819G>T	1.37:g.229567639C>A							p.S273S	NM_001100	NP_001091	P68133	ACTS_HUMAN			6	924	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	273					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.819G>T	CCDS1578.1																																																																																				PASS	0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		38	87	38	87	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242021897	242021897	+	Silent	SNP	G	G	C	rs565914499		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:242021897G>C	ENST00000366548.3	+	8	1226	c.633G>C	c.(631-633)acG>acC	p.T211T	EXO1_ENST00000493702.1_Intron|EXO1_ENST00000348581.5_Silent_p.T211T|EXO1_ENST00000518483.1_Silent_p.T211T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	211	I-domain.|Interaction with MSH3.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.T211T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATGTATTCACGGAAGAGAAGT	0.423								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(631-633)ACG>ACC	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							224.0	191.0	202.0					1																	242021897		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242021897G>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.633G>C	1.37:g.242021897G>C						EXO1_uc001hzi.2_Silent_p.T211T|EXO1_uc001hzj.2_Silent_p.T211T|EXO1_uc009xgq.2_Silent_p.T211T	p.T211T	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		8	1173	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	211			I-domain.|Interaction with MSH3.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.633G>C	CCDS1620.1																																																																																				PASS	0.423	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		27	256	27	256	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244218625	244218625	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:244218625G>A	ENST00000358704.4	+	2	1698	c.1549G>A	c.(1549-1551)Gtc>Atc	p.V517I		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	508					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V508I(1)									CTTGCCTACTGTCAGAGACTG	0.373																																						uc001iae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1522-1524)GTC>ATC		zinc finger protein 238 isoform 2							82.0	86.0	84.0					1																	244218625		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218625G>A	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1549G>A	1.37:g.244218625G>A	ENSP00000351539:p.Val517Ile					ZNF238_uc001iad.3_Missense_Mutation_p.V517I|ZNF238_uc001iaf.1_3'UTR	p.V508I	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	2044	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		508					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1522G>A	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586428	0.46110	.	.	ENSG00000179456	ENST00000358704	T	0.06371	3.31	5.78	5.78	0.91487	.	0.064545	0.64402	D	0.000008	T	0.09818	0.0241	N	0.08118	0	0.80722	D	1	P;P	0.47910	0.643;0.902	P;P	0.61722	0.785;0.893	T	0.48896	-0.8994	10	0.09338	T	0.73	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	508;517	Q99592;Q99592-2	ZN238_HUMAN;.	I	517	ENSP00000351539:V517I	ENSP00000351539:V517I	V	+	1	0	ZNF238	242285248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.836000	0.86788	2.749000	0.94314	0.655000	0.94253	GTC		PASS	0.373	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		26	203	26	203	---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7003614	7003614	+	Silent	SNP	G	G	A	rs371005529		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:7003614G>A	ENST00000256722.5	-	2	770	c.771C>T	c.(769-771)atC>atT	p.I257I	CMPK2_ENST00000458098.1_Silent_p.I257I|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.I257I	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	257					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.I257I(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCAGTCCTTCGATGGCAACAA	0.448																																						uc002qyo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(769-771)ATC>ATT		UMP-CMP kinase 2 precursor		G		1,3805		0,1,1902	126.0	126.0	126.0		771	-10.4	0.0	2		126	0,8234		0,0,4117	no	coding-synonymous	CMPK2	NM_207315.2		0,1,6019	AA,AG,GG		0.0,0.0263,0.0083		257/450	7003614	1,12039	1903	4117	6020	SO:0001819	synonymous_variant	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7003614G>A		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.771C>T	2.37:g.7003614G>A						CMPK2_uc010yis.1_Silent_p.I257I|CMPK2_uc010ewv.2_Silent_p.I257I	p.I257I	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			2	880	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		257					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	c.771C>T	CCDS42648.1																																																																																				PASS	0.448	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		55	96	55	96	---	---	---	---
NTSR2	23620	broad.mit.edu	37	2	11809674	11809675	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:11809674_11809675GC>TT	ENST00000306928.5	-	1	615_616	c.581_582GC>AA	c.(580-582)tGC>tAA	p.C194*		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	194					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.C194*(2)|p.C194Y(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCAGCACCGTGCACACTCGCGA	0.723																																						uc002rbq.3																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)		0						c.(580-582)TGC>TGA|c.(580-582)TGC>TAC		neurotensin receptor 2	Levocabastine(DB01106)																																			SO:0001587	stop_gained	23620				sensory perception	integral to plasma membrane		g.chr2:11809674G>T|g.chr2:11809675C>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.581_582delinsTT	2.37:g.11809674_11809675delinsTT	ENSP00000303686:p.Cys194*						p.C194*|p.C194Y	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	656|655	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		194			Extracellular (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000306928.5	37	c.582C>A|c.581G>A	CCDS1681.1																																																																																				PASS	0.723	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			9	22	9	22	---	---	---	---
FAM49A	81553	broad.mit.edu	37	2	16740772	16740772	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:16740772G>A	ENST00000381323.3	-	10	1013	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	FAM49A_ENST00000355549.2_Missense_Mutation_p.H265Y|FAM49A_ENST00000406434.1_Missense_Mutation_p.H265Y	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	265						intracellular (GO:0005622)		p.H265Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGGTGGACATGGTCATAGAGG	0.468																																						uc010exm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)CAT>TAT		family with sequence similarity 49, member A							162.0	147.0	152.0					2																	16740772		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16740772G>A	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.793C>T	2.37:g.16740772G>A	ENSP00000370724:p.His265Tyr					FAM49A_uc002rck.1_Missense_Mutation_p.H265Y	p.H265Y	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		9	941	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		265					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.793C>T	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769113	0.69992	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.58060	0.36;0.36;0.36	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.55990	1.75	0.80722	D	1	P	0.41420	0.749	B	0.43916	0.436	T	0.58329	-0.7655	10	0.49607	T	0.09	-20.7607	18.1646	0.89721	0.0:0.0:1.0:0.0	.	265	Q9H0Q0	FA49A_HUMAN	Y	265	ENSP00000370724:H265Y;ENSP00000384771:H265Y;ENSP00000347744:H265Y	ENSP00000347744:H265Y	H	-	1	0	FAM49A	16604253	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.946000	0.87746	2.611000	0.88343	0.655000	0.94253	CAT		PASS	0.468	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		69	126	69	126	---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20403985	20403985	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:20403985C>T	ENST00000254351.4	-	3	460	c.216G>A	c.(214-216)acG>acA	p.T72T	SDC1_ENST00000381150.1_Silent_p.T72T|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.T72T	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	72					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.T72T(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGGAATAGCCGTCAGGAGCT	0.622																																						uc002rdo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(214-216)ACG>ACA		syndecan 1 precursor							83.0	91.0	88.0					2																	20403985		2201	4298	6499	SO:0001819	synonymous_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20403985C>T	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.216G>A	2.37:g.20403985C>T						SDC1_uc002rdp.1_Silent_p.T72T|SDC1_uc010exv.2_Silent_p.T72T|SDC1_uc010exw.1_RNA	p.T72T	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	515	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		72			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	c.216G>A	CCDS1697.1																																																																																				PASS	0.622	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		37	183	37	183	---	---	---	---
APOB	338	broad.mit.edu	37	2	21226033	21226033	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:21226033C>A	ENST00000233242.1	-	29	12388	c.12261G>T	c.(12259-12261)aaG>aaT	p.K4087N	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4087					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.K4087N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGTGGTACTTGTTGACAT	0.473																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12259-12261)AAG>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						168.0	168.0	168.0					2																	21226033		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226033C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12261G>T	2.37:g.21226033C>A	ENSP00000233242:p.Lys4087Asn						p.K4087N	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12389	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4087					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12261G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347522	0.41599	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35048	1.33	5.99	0.643	0.17770	.	0.838431	0.10679	N	0.646605	T	0.35740	0.0942	M	0.75447	2.3	0.80722	D	1	B	0.25048	0.117	B	0.22386	0.039	T	0.18461	-1.0336	10	0.72032	D	0.01	.	5.906	0.19001	0.117:0.484:0.0:0.399	.	4087	P04114	APOB_HUMAN	N	4087	ENSP00000233242:K4087N	ENSP00000233242:K4087N	K	-	3	2	APOB	21079538	0.997000	0.39634	0.249000	0.24280	0.908000	0.53690	0.542000	0.23222	-0.160000	0.11002	0.655000	0.94253	AAG		PASS	0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			99	189	99	189	---	---	---	---
VIT	5212	broad.mit.edu	37	2	36986128	36986128	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:36986128G>A	ENST00000389975.3	+	6	728	c.426G>A	c.(424-426)aaG>aaA	p.K142K	VIT_ENST00000457137.2_Silent_p.K142K|VIT_ENST00000401530.1_Silent_p.K142K|VIT_ENST00000379241.3_Silent_p.K142K|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Silent_p.K142K|VIT_ENST00000404084.1_Silent_p.K120K	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	142					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.K142K(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AACCCAAAAAGGGTGTAACCT	0.393																																						uc002rpl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(424-426)AAG>AAA		vitrin							127.0	133.0	131.0					2																	36986128		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:36986128G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.426G>A	2.37:g.36986128G>A						VIT_uc002rpk.2_Silent_p.K135K|VIT_uc010ynf.1_Silent_p.K135K|VIT_uc002rpm.2_Silent_p.K135K|VIT_uc010ezv.2_Silent_p.K135K|VIT_uc010ezw.2_Silent_p.K135K	p.K142K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			6	647	+		all_hematologic(82;0.248)	142					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.426G>A	CCDS54347.1																																																																																				PASS	0.393	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				84	177	84	177	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38570414	38570414	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:38570414T>C	ENST00000378954.4	-	2	360	c.359A>G	c.(358-360)aAc>aGc	p.N120S	ATL2_ENST00000406122.1_Intron|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.N102S|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000452935.2_Missense_Mutation_p.N102S|ATL2_ENST00000486927.1_5'Flank|ATL2_ENST00000419554.2_Missense_Mutation_p.N120S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	120	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.N120S(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						ATTCACCTTGTTATACATGTA	0.333																																						uc002rqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(358-360)AAC>AGC		atlastin GTPase 2 isoform 2							53.0	53.0	53.0					2																	38570414		2202	4300	6502	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.chr2:38570414T>C		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.359A>G	2.37:g.38570414T>C	ENSP00000368237:p.Asn120Ser					ATL2_uc010ynm.1_Missense_Mutation_p.N102S|ATL2_uc010ynn.1_Missense_Mutation_p.N102S|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.N120S|ATL2_uc002rqr.2_Intron	p.N120S	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN			2	389	-			120			Cytoplasmic.		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.359A>G	CCDS46260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.578|8.578	0.881571|0.881571	0.17467|0.17467	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483|ENST00000443098	T;D;D;D;T|.	0.82344|.	-1.46;-1.6;-1.5;-1.56;2.3|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Guanylate-binding protein, N-terminal (1);|.	0.271890|.	0.46758|.	D|.	0.000271|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.01289|0.01289	-0.905|-0.905	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.001|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|5	0.10111|.	T|.	0.7|.	-17.4343|-17.4343	9.2092|9.2092	0.37309|0.37309	0.0:0.0794:0.0:0.9205|0.0:0.0794:0.0:0.9205	.|.	102;102;120;120|.	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;ATLA2_HUMAN|.	S|A	120;102;120;102;157|119	ENSP00000368237:N120S;ENSP00000333393:N102S;ENSP00000415336:N120S;ENSP00000390743:N102S;ENSP00000404921:N157S|.	ENSP00000333393:N102S|.	N|T	-|-	2|1	0|0	ATL2|ATL2	38423918|38423918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.947000|3.947000	0.56652|0.56652	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	AAC|ACA		PASS	0.333	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		55	87	55	87	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54135695	54135695	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:54135695T>C	ENST00000404125.1	-	23	2692	c.2637A>G	c.(2635-2637)atA>atG	p.I879M	PSME4_ENST00000421748.2_Missense_Mutation_p.I23M	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	879					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.I765M(1)|p.I879M(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATTATCAAGTATGTGGTCTA	0.269																																						uc002rxp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(2635-2637)ATA>ATG		proteasome (prosome, macropain) activator							51.0	61.0	57.0					2																	54135695		2200	4285	6485	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54135695T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2637A>G	2.37:g.54135695T>C	ENSP00000384211:p.Ile879Met					PSME4_uc010yop.1_Missense_Mutation_p.I765M|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.I254M|PSME4_uc010fbv.1_Missense_Mutation_p.I23M	p.I879M	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		23	2693	-			879					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2637A>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	15.12	2.737671	0.49045	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.67345	-0.26;-0.26	5.46	1.36	0.22044	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.43152	1.355	0.53005	D	0.999965	B;P;B	0.42203	0.095;0.773;0.058	B;P;B	0.45610	0.093;0.487;0.031	T	0.48068	-0.9067	10	0.30854	T	0.27	.	6.3844	0.21552	0.3478:0.0:0.2403:0.4119	.	254;23;879	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	M	23;879	ENSP00000410830:I23M;ENSP00000384211:I879M	ENSP00000384211:I879M	I	-	3	3	PSME4	53989199	0.999000	0.42202	0.999000	0.59377	0.973000	0.67179	0.424000	0.21330	0.311000	0.23014	0.533000	0.62120	ATA		PASS	0.269	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		58	125	58	125	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56419918	56419918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:56419918C>T	ENST00000407595.2	+	2	1085	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	195								p.Q195*(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCCTGTGCCAACTCACAGC	0.637																																						uc002rzn.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(2)	5						c.(583-585)CAA>TAA		coiled-coil domain containing 85A							27.0	35.0	32.0					2																	56419918		2162	4253	6415	SO:0001587	stop_gained	114800							g.chr2:56419918C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.583C>T	2.37:g.56419918C>T	ENSP00000384040:p.Gln195*						p.Q195*	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1085	+			195						Nonsense_Mutation	SNP	ENST00000407595.2	37	c.583C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	41	9.004404	0.99033	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	5.18	0.71444	.	0.221752	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-26.9792	18.6862	0.91565	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000384040:Q195X	Q	+	1	0	CCDC85A	56273422	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.739000	0.68622	2.404000	0.81709	0.655000	0.94253	CAA		PASS	0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			11	23	11	23	---	---	---	---
ADD2	119	broad.mit.edu	37	2	70906069	70906069	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:70906069G>C	ENST00000264436.4	-	11	1594	c.1150C>G	c.(1150-1152)Cgc>Ggc	p.R384G	ADD2_ENST00000407644.2_Missense_Mutation_p.R384G|ADD2_ENST00000413157.2_Missense_Mutation_p.R384G|ADD2_ENST00000430656.1_Missense_Mutation_p.R400G|ADD2_ENST00000355733.3_Missense_Mutation_p.R384G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	384					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R384G(2)|p.R400G(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGGGTGGCGATACGTGTAA	0.498																																						uc002sgz.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)	3						c.(1150-1152)CGC>GGC		adducin 2 isoform a							149.0	141.0	144.0					2																	70906069		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70906069G>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1150C>G	2.37:g.70906069G>C	ENSP00000264436:p.Arg384Gly					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.R384G|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.R384G|ADD2_uc010fdt.1_Missense_Mutation_p.R384G|ADD2_uc002shc.1_Missense_Mutation_p.R384G|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.R400G	p.R384G	NM_001617	NP_001608	P35612	ADDB_HUMAN			11	1615	-			384					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1150C>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932863	0.73442	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.998;0.998;0.996	T	0.52170	-0.8611	10	0.87932	D	0	-18.6857	16.343	0.83101	0.0:0.0:1.0:0.0	.	400;384;384;384	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	384;384;384;384;384;400	ENSP00000264436:R384G;ENSP00000384677:R384G;ENSP00000347972:R384G;ENSP00000388072:R384G;ENSP00000398112:R400G	ENSP00000264436:R384G	R	-	1	0	ADD2	70759577	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.394000	0.73223	2.716000	0.92895	0.655000	0.94253	CGC		PASS	0.498	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		23	164	23	164	---	---	---	---
FIGLA	344018	broad.mit.edu	37	2	71012601	71012601	+	Silent	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:71012601A>G	ENST00000332372.6	-	3	559	c.555T>C	c.(553-555)gcT>gcC	p.A185A		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	185					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)	p.A185A(2)		endometrium(2)|lung(3)	5						TGTGGCGACAAGCGTGTGCTG	0.458																																						uc002she.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(553-555)GCT>GCC		factor in the germline alpha							241.0	239.0	240.0					2																	71012601		2091	4212	6303	SO:0001819	synonymous_variant	344018				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding	g.chr2:71012601A>G	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"""Basic helix-loop-helix proteins"""	24669	protein-coding gene	gene with protein product	"""factor in the germline alpha"""	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.555T>C	2.37:g.71012601A>G							p.A185A	NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN			3	560	-			185						Silent	SNP	ENST00000332372.6	37	c.555T>C	CCDS46320.1																																																																																				PASS	0.458	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331214.1	NM_001004311		131	300	131	300	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529580	80529580	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:80529580G>T	ENST00000295057.3	-	2	2021	c.1365C>A	c.(1363-1365)gcC>gcA	p.A455A	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A455A|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A455A(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCCTGAGGCTGGCTGGGAAAC	0.567										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1363-1365)GCC>GCA		leucine rich repeat transmembrane neuronal 1							104.0	91.0	96.0					2																	80529580		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529580G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1365C>A	2.37:g.80529580G>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.A455A	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1635	-			455			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1365C>A	CCDS1966.1																																																																																				PASS	0.567	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		32	67	32	67	---	---	---	---
IGKC	3514	broad.mit.edu	37	2	89156980	89156980	+	RNA	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:89156980G>T	ENST00000390237.2	-	0	216				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						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)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTTGCTCAGCGTCAGGGTGCT	0.572																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							102.0	102.0	102.0					2																	89156980		2154	4258	6412			0							g.chr2:89156980G>T	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156980G>T						uc002sti.1_RNA|uc002stj.1_RNA								243		-									RNA	SNP	ENST00000390237.2	37	c.9945C>A																																																																																					PASS	0.572	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		44	68	44	68	---	---	---	---
IGKV1D-16	28901	broad.mit.edu	37	2	90139400	90139400	+	RNA	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:90139400G>T	ENST00000492446.1	+	0	198									immunoglobulin kappa variable 1D-16																		GGTTAGCCTGGTATCAGCAGA	0.532																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							135.0	140.0	139.0					2																	90139400		1916	4141	6057			0							g.chr2:90139400G>T	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139400G>T														18		+									RNA	SNP	ENST00000492446.1	37	c.2193G>T																																																																																					PASS	0.532	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		40	207	40	207	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98422075	98422075	+	Missense_Mutation	SNP	C	C	G	rs373324249		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:98422075C>G	ENST00000186436.5	-	20	2375	c.2147G>C	c.(2146-2148)cGa>cCa	p.R716P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	716						integral component of membrane (GO:0016021)		p.R603P(1)|p.R716P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATAGTAAAATCGCACATCTTC	0.333																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(2146-2148)CGA>CCA		RW1 protein							180.0	186.0	184.0					2																	98422075		1819	4079	5898	SO:0001583	missense	23505					integral to membrane		g.chr2:98422075C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2147G>C	2.37:g.98422075C>G	ENSP00000186436:p.Arg716Pro						p.R716P	NM_015348	NP_056163	Q92545	TM131_HUMAN			20	2376	-			716						Missense_Mutation	SNP	ENST00000186436.5	37	c.2147G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130384	0.77549	.	.	ENSG00000075568	ENST00000186436	T	0.44881	0.91	5.81	4.94	0.65067	.	0.060834	0.64402	D	0.000003	T	0.56572	0.1994	M	0.61703	1.905	0.80722	D	1	D	0.56287	0.975	P	0.56916	0.809	T	0.60566	-0.7238	10	0.62326	D	0.03	-5.7892	14.8586	0.70362	0.0:0.9314:0.0:0.0686	.	716	Q92545	TM131_HUMAN	P	716	ENSP00000186436:R716P	ENSP00000186436:R716P	R	-	2	0	TMEM131	97788507	1.000000	0.71417	0.764000	0.31436	0.955000	0.61496	7.487000	0.81328	1.460000	0.47911	-0.136000	0.14681	CGA		PASS	0.333	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		116	337	116	337	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120252024	120252024	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:120252024C>A	ENST00000019103.5	-	2	440	c.173G>T	c.(172-174)gGc>gTc	p.G58V		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	58					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.G58V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGCTCCGTGCCCAGGTCTCC	0.612																																						uc002tma.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(172-174)GGC>GTC		secretin receptor precursor	Secretin(DB00021)						63.0	54.0	57.0					2																	120252024		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120252024C>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.173G>T	2.37:g.120252024C>A	ENSP00000019103:p.Gly58Val						p.G58V	NM_002980	NP_002971	P47872	SCTR_HUMAN			2	399	-			58			Extracellular (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.173G>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134737	0.21123	.	.	ENSG00000080293	ENST00000019103	T	0.42513	0.97	4.47	1.31	0.21738	GPCR, family 2, extracellular hormone receptor domain (1);	0.720175	0.12071	N	0.502222	T	0.20941	0.0504	N	0.08118	0	0.20074	N	0.999931	B	0.16802	0.019	B	0.20184	0.028	T	0.18713	-1.0328	10	0.46703	T	0.11	.	5.4176	0.16382	0.0:0.4721:0.4099:0.118	.	58	P47872	SCTR_HUMAN	V	58	ENSP00000019103:G58V	ENSP00000019103:G58V	G	-	2	0	SCTR	119968494	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.355000	0.07671	0.476000	0.27440	-0.264000	0.10439	GGC		PASS	0.612	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			24	31	24	31	---	---	---	---
CCDC115	84317	broad.mit.edu	37	2	131096751	131096751	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:131096751C>A	ENST00000259229.2	-	5	708	c.485G>T	c.(484-486)cGa>cTa	p.R162L	CCDC115_ENST00000409127.1_Missense_Mutation_p.R157L|CCDC115_ENST00000437688.2_3'UTR	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	162						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)		p.R162L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GAGCTGGCTTCGACCCCAGTC	0.602																																						uc002tqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CGA>CTA		coiled-coil domain containing 115							63.0	59.0	61.0					2																	131096751		2203	4300	6503	SO:0001583	missense	84317					endosome|lysosome		g.chr2:131096751C>A	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.485G>T	2.37:g.131096751C>A	ENSP00000259229:p.Arg162Leu					CCDC115_uc002tqw.1_3'UTR|CCDC115_uc010zaf.1_3'UTR|CCDC115_uc002tqx.2_Missense_Mutation_p.R157L|CCDC115_uc002tqz.1_3'UTR	p.R162L	NM_032357	NP_115733	Q96NT0	CC115_HUMAN			5	709	-	Colorectal(110;0.1)		162			Potential.		B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	c.485G>T	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859237	0.17178	.	.	ENSG00000136710	ENST00000259229;ENST00000409127	D;D	0.99113	-5.44;-5.44	4.0	-7.59	0.01308	.	0.591153	0.15929	N	0.237750	D	0.96052	0.8714	L	0.54908	1.71	0.28155	N	0.929244	B;B	0.17667	0.005;0.023	B;B	0.17979	0.005;0.02	D	0.86666	0.1907	10	0.11485	T	0.65	.	10.6692	0.45749	0.1131:0.1527:0.0:0.7343	.	162;157	Q96NT0;B8ZZ99	CC115_HUMAN;.	L	162;157	ENSP00000259229:R162L;ENSP00000387301:R157L	ENSP00000259229:R162L	R	-	2	0	CCDC115	130813221	0.012000	0.17670	0.004000	0.12327	0.865000	0.49528	-0.802000	0.04545	-2.232000	0.00717	-0.469000	0.05056	CGA		PASS	0.602	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		3	103	3	103	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157027	145157027	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:145157027T>C	ENST00000558170.2	-	8	2911	c.1727A>G	c.(1726-1728)aAc>aGc	p.N576S	ZEB2_ENST00000303660.4_Missense_Mutation_p.N576S|ZEB2_ENST00000539609.3_Missense_Mutation_p.N552S|ZEB2_ENST00000409487.3_Missense_Mutation_p.N576S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	576					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.N576S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTGGATATGTTGTGGTTCTC	0.383																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1726-1728)AAC>AGC		zinc finger homeobox 1b							199.0	200.0	200.0					2																	145157027		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157027T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1727A>G	2.37:g.145157027T>C	ENSP00000454157:p.Asn576Ser					ZEB2_uc002tvv.2_Missense_Mutation_p.N570S|ZEB2_uc010zbm.1_Missense_Mutation_p.N547S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N605S	p.N576S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2207	-			576					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1727A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193492	0.09599	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.74	-4.46	0.03536	.	0.549745	0.22268	N	0.062307	T	0.47911	0.1471	N	0.02539	-0.55	0.32074	N	0.593976	B;B;B;B	0.15473	0.013;0.002;0.0;0.0	B;B;B;B	0.17979	0.02;0.002;0.0;0.002	T	0.34502	-0.9826	10	0.19147	T	0.46	-1.1236	13.6597	0.62359	0.0:0.5289:0.0:0.4711	.	552;441;575;576	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	552;576;576;576	ENSP00000443792:N552S;ENSP00000302501:N576S;ENSP00000386854:N576S;ENSP00000395496:N576S	ENSP00000302501:N576S	N	-	2	0	ZEB2	144873497	0.994000	0.37717	0.888000	0.34837	0.949000	0.60115	0.433000	0.21477	-0.883000	0.03982	-0.256000	0.11100	AAC		PASS	0.383	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		92	106	92	106	---	---	---	---
UPP2	151531	broad.mit.edu	37	2	158980362	158980362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:158980362G>T	ENST00000005756.4	+	6	960	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	UPP2_ENST00000409859.4_Nonsense_Mutation_p.E313*|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Nonsense_Mutation_p.E313*	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	256				ESTVFAA -> GIYSVCS (in Ref. 1; AAO61681). {ECO:0000305}.	nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.E256*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TATTGAAATGGAATCTACAGT	0.413																																						uc002tzp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(766-768)GAA>TAA		uridine phosphorylase 2 isoform a							143.0	134.0	137.0					2																	158980362		2203	4300	6503	SO:0001587	stop_gained	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158980362G>T	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.766G>T	2.37:g.158980362G>T	ENSP00000005756:p.Glu256*					UPP2_uc002tzo.2_Nonsense_Mutation_p.E313*	p.E256*	NM_173355	NP_775491	O95045	UPP2_HUMAN			6	960	+			256	ESTVFAA -> GIYSVCS (in Ref. 1; AAO61681).				B3KV87	Nonsense_Mutation	SNP	ENST00000005756.4	37	c.766G>T	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160648	0.94727	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9818	0.86329	0.0:0.0:1.0:0.0	.	.	.	.	X	313;256	.	ENSP00000005756:E256X	E	+	1	0	UPP2	158688608	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.413000	0.97351	2.583000	0.87209	0.551000	0.68910	GAA		PASS	0.413	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		35	174	35	174	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163072485	163072485	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:163072485C>A	ENST00000188790.4	-	10	996	c.789G>T	c.(787-789)cgG>cgT	p.R263R	FAP_ENST00000443424.1_Silent_p.R238R	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.R263R(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						TAATAAATATCCGAACAACGG	0.408																																						uc002ucd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(787-789)CGG>CGT		fibroblast activation protein, alpha subunit							78.0	78.0	78.0					2																	163072485		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:163072485C>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.789G>T	2.37:g.163072485C>A						FAP_uc010zct.1_Silent_p.R238R|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Silent_p.R230R	p.R263R	NM_004460	NP_004451	Q12884	SEPR_HUMAN			10	997	-			263			Extracellular (Potential).			Silent	SNP	ENST00000188790.4	37	c.789G>T	CCDS33311.1																																																																																				PASS	0.408	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			30	49	30	49	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163361029	163361029	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:163361029G>T	ENST00000332142.5	-	6	1151	c.1052C>A	c.(1051-1053)cCt>cAt	p.P351H	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.P344H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	351					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P344H(1)|p.P351H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGAAGAAGGAGGTGATGAATT	0.373																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1051-1053)CCT>CAT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						192.0	190.0	191.0					2																	163361029		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163361029G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1052C>A	2.37:g.163361029G>T	ENSP00000331727:p.Pro351His					KCNH7_uc002uci.2_Missense_Mutation_p.P344H	p.P351H	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1264	-			351			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1052C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908966	0.72868	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99292	-5.7;-5.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.67953	2.075	0.80722	D	1	P;D	0.76494	0.511;0.999	B;D	0.70935	0.288;0.971	D	0.99777	1.1026	10	0.62326	D	0.03	.	19.775	0.96388	0.0:0.0:1.0:0.0	.	344;351	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	H	351;344	ENSP00000331727:P351H;ENSP00000333781:P344H	ENSP00000333781:P344H	P	-	2	0	KCNH7	163069275	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.785000	0.99042	2.741000	0.93983	0.585000	0.79938	CCT		PASS	0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		84	139	84	139	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467420	164467420	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:164467420G>C	ENST00000333129.3	-	3	1236	c.922C>G	c.(922-924)Ctg>Gtg	p.L308V	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	308					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.L308V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGTTTGTCAGAGCCGACGGT	0.522																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(922-924)CTG>GTG		fidgetin							72.0	73.0	73.0					2																	164467420		1981	4158	6139	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467420G>C	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.922C>G	2.37:g.164467420G>C	ENSP00000333836:p.Leu308Val						p.L308V	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1233	-			308					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.922C>G	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	7.043	0.562844	0.13498	.	.	ENSG00000182263	ENST00000333129	D	0.92249	-3.0	5.73	4.85	0.62838	.	0.151175	0.45867	D	0.000335	D	0.83922	0.5359	L	0.27053	0.805	0.50039	D	0.999844	B	0.02656	0.0	B	0.01281	0.0	T	0.76198	-0.3047	10	0.12766	T	0.61	-8.3226	9.8077	0.40803	0.073:0.1408:0.7862:0.0	.	308	Q5HY92	FIGN_HUMAN	V	308	ENSP00000333836:L308V	ENSP00000333836:L308V	L	-	1	2	FIGN	164175666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.039000	0.49791	2.705000	0.92388	0.563000	0.77884	CTG		PASS	0.522	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		48	90	48	90	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	C	T	rs149579028	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:166866283C>T	ENST00000303395.4	-	20	3947	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	SCN1A_ENST00000375405.3_Silent_p.R1305R|SCN1A_ENST00000409050.1_Silent_p.R1288R|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Silent_p.R1316R|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1316					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.R1305R(1)|p.R1316R(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)	CTCTTAGTGTCCTGAGAGATT	0.368													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14005	0.0		0.0	False		,,,				2504	0.0					uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3913-3915)AGG>AGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	,,,	8,4398	14.3+/-33.2	0,8,2195	88.0	87.0	88.0		3948,3864,3948,3915	2.3	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,,	1316/2010,1288/1982,1316/2010,1305/1999	166866283	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866283C>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.3948G>A	2.37:g.166866283C>T						SCN1A_uc002udo.3_Silent_p.R1185R|SCN1A_uc010fpk.2_Silent_p.R1157R	p.R1305R	NM_006920	NP_008851	P35498	SCN1A_HUMAN			20	3933	-			1316			Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3915G>A	CCDS54413.1																																																																																				PASS	0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		28	103	28	103	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104241	168104241	+	Silent	SNP	C	C	A	rs535738335		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:168104241C>A	ENST00000409195.1	+	9	6428	c.6339C>A	c.(6337-6339)tcC>tcA	p.S2113S	XIRP2_ENST00000295237.9_Silent_p.S2113S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S1891S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1938	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2113S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTTAATTCCATCCAATCTG	0.378																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(6337-6339)TCC>TCA		xin actin-binding repeat containing 2 isoform 1							61.0	57.0	58.0					2																	168104241		1923	4139	6062	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104241C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6339C>A	2.37:g.168104241C>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S1938S|XIRP2_uc010fpq.2_Silent_p.S1891S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.S2113S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6357	+			1938					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.6339C>A	CCDS42769.1																																																																																				PASS	0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	58	18	58	---	---	---	---
FASTKD1	79675	broad.mit.edu	37	2	170387128	170387128	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:170387128T>C	ENST00000453153.2	-	14	2757	c.2411A>G	c.(2410-2412)cAt>cGt	p.H804R	FASTKD1_ENST00000453929.2_Missense_Mutation_p.H761R|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	804	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.H804R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATTTCCAAATGTCGTTTTTT	0.343																																						uc002uev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2410-2412)CAT>CGT		FAST kinase domains 1							155.0	166.0	162.0					2																	170387128		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170387128T>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2411A>G	2.37:g.170387128T>C	ENSP00000400513:p.His804Arg					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.H747R	p.H804R	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			14	2799	-			804			RAP.		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.2411A>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291899	0.80914	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.46063	1.1;0.88	5.34	5.34	0.76211	RAP domain (3);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.89785	3.06	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.68621	0.932;0.959	T	0.77534	-0.2552	10	0.72032	D	0.01	-8.6901	15.3747	0.74596	0.0:0.0:0.0:1.0	.	761;804	Q53R41-2;Q53R41	.;FAKD1_HUMAN	R	804;761	ENSP00000400513:H804R;ENSP00000403229:H761R	ENSP00000400513:H804R	H	-	2	0	FASTKD1	170095374	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.588000	0.82629	2.033000	0.60031	0.529000	0.55759	CAT		PASS	0.343	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		122	182	122	182	---	---	---	---
METTL8	79828	broad.mit.edu	37	2	172195693	172195693	+	Splice_Site	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:172195693C>G	ENST00000375258.4	-	4	822		c.e4+1			NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8							cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.?(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GAGCACAATACCTCTAGTATC	0.343																																						uc010zdo.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e4+1		methyltransferase like 8							119.0	117.0	117.0					2																	172195693		2203	4300	6503	SO:0001630	splice_region_variant	79828						methyltransferase activity	g.chr2:172195693C>G	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.606+1G>C	2.37:g.172195693C>G						METTL8_uc002ugu.3_Splice_Site_p.E202_splice|METTL8_uc002ugv.3_Splice_Site_p.E202_splice|METTL8_uc002ugt.3_Splice_Site_p.E202_splice|METTL8_uc002ugs.3_Splice_Site_p.E152_splice|METTL8_uc010zdp.1_Splice_Site_p.E157_splice	p.E202_splice	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN			4	747	-								Q53TM9|Q53TQ0	Splice_Site	SNP	ENST00000375258.4	37	c.606_splice		.	.	.	.	.	.	.	.	.	.	C	18.65	3.669598	0.67814	.	.	ENSG00000123600	ENST00000375258;ENST00000438609;ENST00000392599	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL8	171903939	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.507000	0.73717	2.857000	0.98124	0.650000	0.86243	.		PASS	0.343	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	Intron	44	196	44	196	---	---	---	---
ATF2	1386	broad.mit.edu	37	2	175962228	175962228	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:175962228C>G	ENST00000264110.2	-	11	1220	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	ATF2_ENST00000538946.1_Missense_Mutation_p.E290Q|ATF2_ENST00000409437.1_Missense_Mutation_p.E192Q|ATF2_ENST00000409635.1_Missense_Mutation_p.E250Q|ATF2_ENST00000426833.3_Missense_Mutation_p.E290Q|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.E250Q|ATF2_ENST00000392544.1_Missense_Mutation_p.E308Q|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000487334.2_3'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	308					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|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 transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|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 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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)	p.E308Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CGAGATTCCTCTGACTGAGTC	0.438																																					Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|pancreas(1)	3						c.(922-924)GAG>CAG		activating transcription factor 2							159.0	136.0	144.0					2																	175962228		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor 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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175962228C>G	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.922G>C	2.37:g.175962228C>G	ENSP00000264110:p.Glu308Gln					ATF2_uc010fqv.2_Missense_Mutation_p.E259Q|ATF2_uc002ujv.2_Missense_Mutation_p.E55Q|ATF2_uc002ujm.2_Missense_Mutation_p.E250Q|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.E308Q|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.E290Q|ATF2_uc002ujs.2_Missense_Mutation_p.E250Q|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.E250Q|ATF2_uc002ujx.1_RNA	p.E308Q	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		11	1184	-			308					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.922G>C	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157512	0.57368	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.78364	-1.17;0.4;-0.53;0.4;-1.17;-1.17;-0.73	5.54	5.54	0.83059	.	0.119028	0.56097	D	0.000034	T	0.74145	0.3678	M	0.63843	1.955	0.58432	D	0.999998	D;B;B;B	0.54207	0.965;0.002;0.035;0.215	B;B;B;B	0.39068	0.289;0.006;0.064;0.058	T	0.73186	-0.4062	10	0.17369	T	0.5	-9.3342	19.4784	0.94998	0.0:1.0:0.0:0.0	.	290;285;250;308	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	Q	308;250;285;192;250;308;290;290	ENSP00000264110:E308Q;ENSP00000340576:E250Q;ENSP00000386326:E192Q;ENSP00000387093:E250Q;ENSP00000376327:E308Q;ENSP00000407911:E290Q;ENSP00000437952:E290Q	ENSP00000264110:E308Q	E	-	1	0	ATF2	175670474	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.105000	0.77031	2.607000	0.88179	0.557000	0.71058	GAG		PASS	0.438	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		23	131	23	131	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447023	179447023	+	Splice_Site	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179447023C>T	ENST00000591111.1	-	264	61461	c.61237G>A	c.(61237-61239)Gac>Aac	p.D20413N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.D12989N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.D13114N|TTN_ENST00000589042.1_Splice_Site_p.D22054N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D19486N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.D13181N|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20413					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.D19486N(1)|p.D13114N(1)|p.D12989N(1)|p.D13181N(1)|p.D19484N(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)			ATGTTCCTACCATATGGGTTT	0.383																																						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.(58456-58458)GAC>AAC		titin isoform N2-A							35.0	34.0	34.0					2																	179447023		1821	4069	5890	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447023C>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.61237+1G>A	2.37:g.179447023C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13181N|TTN_uc010zfi.1_Missense_Mutation_p.D13114N|TTN_uc010zfj.1_Missense_Mutation_p.D12989N	p.D19486N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	58680	-			20413					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.58456G>A		.	.	.	.	.	.	.	.	.	.	C	11.49	1.653894	0.29425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.86	3.12	0.35913	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46308	0.1386	L	0.60455	1.87	0.39503	D	0.968235	B;B;B;B	0.22541	0.071;0.041;0.071;0.041	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.33624	-0.9861	8	.	.	.	.	11.4549	0.50176	0.0:0.8044:0.0:0.1956	.	12989;13114;13181;20413	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19486;12989;13181;13114;12987	ENSP00000343764:D19486N;ENSP00000434586:D12989N;ENSP00000340554:D13181N;ENSP00000352154:D13114N	.	D	-	1	0	TTN	179155269	0.998000	0.40836	0.113000	0.21522	0.421000	0.31385	3.909000	0.56363	0.398000	0.25338	-0.136000	0.14681	GAC		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	21	91	21	91	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179464030	179464030	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179464030C>T	ENST00000591111.1	-	240	51791	c.51567G>A	c.(51565-51567)aaG>aaA	p.K17189K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.K9765K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.K9890K|TTN_ENST00000589042.1_Silent_p.K18830K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.K16262K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.K9957K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17189	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.K9890K(1)|p.K16260K(1)|p.K16262K(1)|p.K9765K(1)|p.K9957K(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)			GGACCCATGTCTTCCTGTTAG	0.413																																						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.(48784-48786)AAG>AAA		titin isoform N2-A							133.0	123.0	126.0					2																	179464030		1892	4115	6007	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464030C>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.51567G>A	2.37:g.179464030C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K9957K|TTN_uc010zfi.1_Silent_p.K9890K|TTN_uc010zfj.1_Silent_p.K9765K	p.K16262K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	49010	-			17189					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.48786G>A																																																																																					PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	169	33	169	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179476369	179476369	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179476369C>T	ENST00000591111.1	-	219	45888	c.45664G>A	c.(45664-45666)Gat>Aat	p.D15222N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7798N|TTN_ENST00000359218.5_Missense_Mutation_p.D7923N|TTN_ENST00000589042.1_Missense_Mutation_p.D16863N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14295N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7990N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15222	Fibronectin type-III 11. {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.D14295N(2)|p.D7923N(1)|p.D7990N(1)|p.D7798N(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)			CTCCCAGCATCAGTCACATGT	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.(42883-42885)GAT>AAT		titin isoform N2-A							96.0	92.0	93.0					2																	179476369		1913	4130	6043	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476369C>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.45664G>A	2.37:g.179476369C>T	ENSP00000465570:p.Asp15222Asn					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D7990N|TTN_uc010zfi.1_Missense_Mutation_p.D7923N|TTN_uc010zfj.1_Missense_Mutation_p.D7798N	p.D14295N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		218	43107	-			15222					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.42883G>A		.	.	.	.	.	.	.	.	.	.	C	16.39	3.108788	0.56398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64659	0.2618	L	0.53780	1.695	0.58432	D	0.999999	D;D;D;D	0.57571	0.98;0.98;0.98;0.98	P;P;P;P	0.53224	0.721;0.721;0.721;0.721	T	0.64597	-0.6370	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	7798;7923;7990;15222	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14295;7798;7990;7923;7798	ENSP00000343764:D14295N;ENSP00000434586:D7798N;ENSP00000340554:D7990N;ENSP00000352154:D7923N	ENSP00000340554:D7990N	D	-	1	0	TTN	179184614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	153	25	153	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179477512	179477512	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179477512G>A	ENST00000591111.1	-	215	45237	c.45013C>T	c.(45013-45015)Cgg>Tgg	p.R15005W	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7581W|TTN_ENST00000359218.5_Missense_Mutation_p.R7706W|TTN_ENST00000589042.1_Missense_Mutation_p.R16646W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14078W|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7773W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15005	Fibronectin type-III 8. {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.R14078W(2)|p.R7706W(1)|p.R7581W(1)|p.R7773W(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)			AGCTTCTCCCGGCAAAGCACA	0.438																																						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.(42232-42234)CGG>TGG		titin isoform N2-A							30.0	28.0	29.0					2																	179477512		1908	4149	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477512G>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.45013C>T	2.37:g.179477512G>A	ENSP00000465570:p.Arg15005Trp					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R7773W|TTN_uc010zfi.1_Missense_Mutation_p.R7706W|TTN_uc010zfj.1_Missense_Mutation_p.R7581W	p.R14078W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		214	42456	-			15005					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.42232C>T		.	.	.	.	.	.	.	.	.	.	G	10.38	1.334417	0.24253	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.71	1.19	0.21007	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60143	0.2246	M	0.70595	2.14	0.35074	D	0.76274	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;P	0.49683	0.619;0.619;0.619;0.619	T	0.75263	-0.3379	9	0.87932	D	0	.	15.4414	0.75184	0.0:0.0:0.2222:0.7778	.	7581;7706;7773;15005	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	14078;7581;7773;7706;7581	ENSP00000343764:R14078W;ENSP00000434586:R7581W;ENSP00000340554:R7773W;ENSP00000352154:R7706W	ENSP00000340554:R7773W	R	-	1	2	TTN	179185757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.910000	0.56371	0.276000	0.22118	0.563000	0.77884	CGG		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	33	8	33	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179501173	179501173	+	Missense_Mutation	SNP	G	G	A	rs376166350		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179501173G>A	ENST00000591111.1	-	175	36582	c.36358C>T	c.(36358-36360)Cgt>Tgt	p.R12120C	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4696C|TTN_ENST00000359218.5_Missense_Mutation_p.R4821C|TTN_ENST00000589042.1_Missense_Mutation_p.R13761C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11193C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4888C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12120	Ig-like 80.				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.R11193C(2)|p.R4696C(1)|p.R4821C(1)|p.R4888C(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)			TTTCCCAAACGTAAAACACAG	0.373																																						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.(33577-33579)CGT>TGT		titin isoform N2-A		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3654		0,0,1827	61.0	58.0	59.0		14086,33577,14461,14662	3.8	0.8	2		59	1,8183		0,1,4091	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	0,1,5918	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	4696/26927,11193/33424,4821/27052,4888/27119	179501173	1,11837	1827	4092	5919	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501173G>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.36358C>T	2.37:g.179501173G>A	ENSP00000465570:p.Arg12120Cys					TTN_uc010zfh.1_Missense_Mutation_p.R4888C|TTN_uc010zfi.1_Missense_Mutation_p.R4821C|TTN_uc010zfj.1_Missense_Mutation_p.R4696C|TTN_uc010fre.1_Missense_Mutation_p.R1054C	p.R11193C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33801	-			12120					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.33577C>T		.	.	.	.	.	.	.	.	.	.	G	10.77	1.444267	0.25987	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.76	3.82	0.43975	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80783	0.4689	M	0.87097	2.86	0.09310	N	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.57283	0.817;0.817;0.817;0.817	T	0.73388	-0.3998	9	0.87932	D	0	.	13.7942	0.63160	0.0:0.0:0.5239:0.4761	.	4696;4821;4888;12120	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11193;4696;4888;4821;4696	ENSP00000343764:R11193C;ENSP00000434586:R4696C;ENSP00000340554:R4888C;ENSP00000352154:R4821C	ENSP00000340554:R4888C	R	-	1	0	TTN	179209418	1.000000	0.71417	0.760000	0.31359	0.998000	0.95712	2.559000	0.45888	1.393000	0.46605	0.650000	0.86243	CGT		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	77	10	77	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611819	179611819	+	Intron	SNP	A	A	T	rs397517814		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179611819A>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.L5103Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATCGCTCTAGAGTCTCTCC	0.498																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15307-15309)CTA>CAA		titin isoform novex-3							66.0	75.0	72.0					2																	179611819		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611819A>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.10361-5171T>A	2.37:g.179611819A>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L5103Q	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15532	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15308T>A		.	.	.	.	.	.	.	.	.	.	A	10.86	1.469906	0.26423	.	.	ENSG00000155657	ENST00000360870	T	0.60171	0.21	5.24	4.07	0.47477	.	.	.	.	.	T	0.51517	0.1679	L	0.53249	1.67	0.24823	N	0.992575	D	0.53151	0.958	P	0.45506	0.483	T	0.52343	-0.8588	9	0.52906	T	0.07	.	3.8381	0.08903	0.6786:0.0:0.141:0.1804	.	5103	Q8WZ42-6	.	Q	5103	ENSP00000354117:L5103Q	ENSP00000354117:L5103Q	L	-	2	0	TTN	179320064	0.107000	0.21998	0.022000	0.16811	0.301000	0.27625	3.019000	0.49635	2.105000	0.64084	0.533000	0.62120	CTA		PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	162	32	162	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179718318	179718318	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179718318C>T	ENST00000420890.2	-	20	3211	c.3094G>A	c.(3094-3096)Gtt>Att	p.V1032I	CCDC141_ENST00000295723.5_Missense_Mutation_p.V457I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1032								p.V1032I(1)|p.V457I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACTCTTACAACTGTGGCACTT	0.378																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1369-1371)GTT>ATT		coiled-coil domain containing 141							100.0	101.0	101.0					2																	179718318		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179718318C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3094G>A	2.37:g.179718318C>T	ENSP00000395995:p.Val1032Ile						p.V457I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		10	1426	-			457					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1369G>A		.	.	.	.	.	.	.	.	.	.	C	10.86	1.468727	0.26335	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.35236	1.32;1.32;1.32	5.85	3.1	0.35709	.	0.265097	0.26109	N	0.026288	T	0.24198	0.0586	N	0.20986	0.625	0.26641	N	0.972295	B	0.27997	0.197	B	0.27796	0.083	T	0.11891	-1.0569	10	0.38643	T	0.18	-7.7966	11.2499	0.49020	0.0:0.8019:0.0:0.1981	.	457	Q6ZP82	CC141_HUMAN	I	1032;476;457	ENSP00000395995:V1032I;ENSP00000344627:V476I;ENSP00000295723:V457I	ENSP00000295723:V457I	V	-	1	0	CCDC141	179426563	0.991000	0.36638	0.969000	0.41365	0.985000	0.73830	2.341000	0.43983	0.386000	0.24997	-0.136000	0.14681	GTT		PASS	0.378	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		17	140	17	140	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196729651	196729651	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:196729651T>A	ENST00000312428.6	-	41	6828	c.6728A>T	c.(6727-6729)gAa>gTa	p.E2243V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2243					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.E2243V(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						ATGAAAATCTTCATACATGTA	0.393																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(6727-6729)GAA>GTA		dynein, axonemal, heavy chain 7							110.0	103.0	105.0					2																	196729651		1879	4110	5989	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729651T>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.6728A>T	2.37:g.196729651T>A	ENSP00000311273:p.Glu2243Val						p.E2243V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	6829	-			2243					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6728A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353823	0.11182	.	.	ENSG00000118997	ENST00000312428	T	0.25414	1.8	4.98	4.98	0.66077	.	0.055109	0.64402	D	0.000001	T	0.19327	0.0464	N	0.25957	0.775	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.03524	-1.1028	10	0.30078	T	0.28	.	14.4971	0.67698	0.0:0.0:0.0:1.0	.	2243	Q8WXX0	DYH7_HUMAN	V	2243	ENSP00000311273:E2243V	ENSP00000311273:E2243V	E	-	2	0	DNAH7	196437896	1.000000	0.71417	0.204000	0.23530	0.045000	0.14185	5.966000	0.70395	2.105000	0.64084	0.460000	0.39030	GAA		PASS	0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		23	165	23	165	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200233368	200233368	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:200233368C>G	ENST00000417098.1	-	6	1476	c.660G>C	c.(658-660)caG>caC	p.Q220H	SATB2_ENST00000260926.5_Missense_Mutation_p.Q220H|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000443023.1_Missense_Mutation_p.Q161H|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Missense_Mutation_p.Q220H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	220					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.Q220H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCAAACTCCTGGCACTTGG	0.313																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)CAG>CAC		SATB homeobox 2							97.0	95.0	96.0					2																	200233368		2203	4299	6502	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200233368C>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.660G>C	2.37:g.200233368C>G	ENSP00000401112:p.Gln220His					SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.Q220H|SATB2_uc002uva.1_Missense_Mutation_p.Q220H	p.Q220H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			6	1477	-			220					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.660G>C	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454931	0.43634	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	L	0.43923	1.385	0.43930	D	0.996589	B	0.32653	0.379	B	0.33339	0.162	T	0.71892	-0.4455	10	0.72032	D	0.01	-20.6022	20.1518	0.98089	0.0:1.0:0.0:0.0	.	220	Q9UPW6	SATB2_HUMAN	H	220;161;220;220	ENSP00000401112:Q220H;ENSP00000388764:Q161H;ENSP00000260926:Q220H;ENSP00000405420:Q220H	ENSP00000260926:Q220H	Q	-	3	2	SATB2	199941613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.684000	0.37649	2.769000	0.95229	0.491000	0.48974	CAG		PASS	0.313	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		9	143	9	143	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207173228	207173228	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:207173228G>A	ENST00000374423.3	+	5	4362	c.3976G>A	c.(3976-3978)Gat>Aat	p.D1326N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1326							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D1326N(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTGCCCAGTGATTCTGAAAT	0.393																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3976-3978)GAT>AAT		zinc finger, DBF-type containing 2							49.0	48.0	48.0					2																	207173228		1842	4077	5919	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173228G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3976G>A	2.37:g.207173228G>A	ENSP00000363545:p.Asp1326Asn						p.D1326N	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	4226	+			1326					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3976G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499607	0.26861	.	.	ENSG00000204186	ENST00000374423	T	0.50001	0.76	4.22	4.22	0.49857	.	.	.	.	.	T	0.44644	0.1303	M	0.64404	1.975	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.20974	-1.0259	9	0.22109	T	0.4	.	12.3964	0.55386	0.0:0.0:1.0:0.0	.	1326	Q9HCK1	ZDBF2_HUMAN	N	1326	ENSP00000363545:D1326N	ENSP00000363545:D1326N	D	+	1	0	ZDBF2	206881473	0.014000	0.17966	0.010000	0.14722	0.262000	0.26303	0.620000	0.24403	2.625000	0.88918	0.650000	0.86243	GAT		PASS	0.393	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		38	31	38	31	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560172	210560172	+	Missense_Mutation	SNP	G	G	T	rs139654422	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:210560172G>T	ENST00000360351.4	+	7	3784	c.3278G>T	c.(3277-3279)gGt>gTt	p.G1093V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G1089V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1093					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.G1093V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCATTTATGGGTGTTGAGTCT	0.493																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3277-3279)GGT>GTT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)	G	,VAL/GLY,,	0,4406		0,0,2203	101.0	101.0	101.0		,3278,,	4.9	0.5	2	dbSNP_134	101	5,8595	3.7+/-12.6	0,5,4295	yes	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,109,,	0,5,6498	TT,TG,GG		0.0581,0.0,0.0384	,possibly-damaging,,	,1093/1828,,	210560172	5,13001	2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560172G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3278G>T	2.37:g.210560172G>T	ENSP00000353508:p.Gly1093Val					MAP2_uc002vdc.1_Missense_Mutation_p.G1093V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G1089V	p.G1093V	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3526	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1093					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3278G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003120	0.35320	0.0	5.81E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.31769	1.48;1.48	5.83	4.95	0.65309	MAP2/Tau projection (1);	0.616072	0.16253	N	0.222627	T	0.26774	0.0655	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.18178	-1.0345	10	0.54805	T	0.06	-4.613	7.9242	0.29865	0.2435:0.0:0.7565:0.0	.	1089;1093	P11137-3;P11137	.;MAP2_HUMAN	V	1093;1089	ENSP00000353508:G1093V;ENSP00000392164:G1089V	ENSP00000353508:G1093V	G	+	2	0	MAP2	210268417	0.000000	0.05858	0.509000	0.27700	0.314000	0.28054	0.487000	0.22356	1.469000	0.48083	0.650000	0.86243	GGT		PASS	0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		105	95	105	95	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211438084	211438084	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:211438084T>G	ENST00000233072.5	+	2	385	c.189T>G	c.(187-189)caT>caG	p.H63Q	CPS1_ENST00000430249.2_Missense_Mutation_p.H69Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	63	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.H69Q(1)|p.H63Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTTTGGCCATCCATCCTCTG	0.423																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(187-189)CAT>CAG		carbamoyl-phosphate synthetase 1 isoform b							210.0	197.0	202.0					2																	211438084		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211438084T>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.189T>G	2.37:g.211438084T>G	ENSP00000233072:p.His63Gln					CPS1_uc010fur.2_Missense_Mutation_p.H69Q	p.H63Q	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	2	321	+			63			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.189T>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002696	0.35320	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.6	1.99	0.26369	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.047140	0.85682	D	0.000000	D	0.87629	0.6225	L	0.35288	1.05	0.80722	D	1	P;P	0.37398	0.593;0.593	B;B	0.39094	0.29;0.29	T	0.81415	-0.0943	10	0.33940	T	0.23	-12.0195	8.2617	0.31788	0.0:0.2905:0.0:0.7095	.	73;63	Q59HF8;P31327	.;CPSM_HUMAN	Q	63;63;69;69;71;63;63	ENSP00000388496:H63Q;ENSP00000430697:H63Q;ENSP00000430644:H69Q;ENSP00000402608:H69Q;ENSP00000233072:H63Q	ENSP00000233072:H63Q	H	+	3	2	CPS1	211146329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.690000	0.37711	0.409000	0.25649	-0.290000	0.09829	CAT		PASS	0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			23	180	23	180	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212248560	212248560	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:212248560G>T	ENST00000342788.4	-	28	4017	c.3707C>A	c.(3706-3708)gCg>gAg	p.A1236E	ERBB4_ENST00000402597.1_Missense_Mutation_p.A1226E|ERBB4_ENST00000436443.1_Missense_Mutation_p.A1220E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1236					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A1236E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTTGTCAAACGCTTTCTTGGC	0.483										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3706-3708)GCG>GAG		v-erb-a erythroblastic leukemia viral oncogene							244.0	224.0	231.0					2																	212248560		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248560G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3707C>A	2.37:g.212248560G>T	ENSP00000342235:p.Ala1236Glu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.A1220E|ERBB4_uc010zji.1_Missense_Mutation_p.A1226E|ERBB4_uc010zjj.1_Missense_Mutation_p.A1210E	p.A1236E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	28	3805	-		Renal(323;0.06)|Lung NSC(271;0.197)	1236			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3707C>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319789	0.60524	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75477	-0.94;-0.94;-0.94	5.11	5.11	0.69529	.	0.062435	0.64402	D	0.000006	T	0.80433	0.4622	L	0.32530	0.975	0.46149	D	0.99889	P;D;P;B	0.61080	0.761;0.989;0.761;0.451	B;D;B;B	0.65443	0.272;0.935;0.272;0.097	T	0.82192	-0.0579	10	0.87932	D	0	.	19.09	0.93223	0.0:0.0:1.0:0.0	.	1210;1226;1220;1236	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	E	1236;1220;1226	ENSP00000342235:A1236E;ENSP00000403204:A1220E;ENSP00000385565:A1226E	ENSP00000342235:A1236E	A	-	2	0	ERBB4	211956805	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.961000	0.70356	2.812000	0.96745	0.557000	0.71058	GCG		PASS	0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		40	205	40	205	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215875075	215875075	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:215875075T>C	ENST00000272895.7	-	18	2671	c.2452A>G	c.(2452-2454)Aca>Gca	p.T818A	ABCA12_ENST00000389661.4_Missense_Mutation_p.T500A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	818					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.T818A(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTGCCTTTGTGACTGGGTTA	0.338																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(2452-2454)ACA>GCA		ATP-binding cassette, sub-family A, member 12							125.0	121.0	122.0					2																	215875075		2203	4299	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215875075T>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2452A>G	2.37:g.215875075T>C	ENSP00000272895:p.Thr818Ala					ABCA12_uc002vev.2_Missense_Mutation_p.T500A|ABCA12_uc010zjn.1_5'UTR	p.T818A	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	18	2672	-		Renal(323;0.127)	818					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2452A>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138739	0.77775	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.11169	2.8;2.8	5.38	5.38	0.77491	.	0.087974	0.50627	D	0.000119	T	0.25975	0.0633	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.85130	0.997;0.954	T	0.01099	-1.1452	10	0.27785	T	0.31	.	15.6671	0.77238	0.0:0.0:0.0:1.0	.	818;500	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	A	818;500	ENSP00000272895:T818A;ENSP00000374312:T500A	ENSP00000272895:T818A	T	-	1	0	ABCA12	215583320	1.000000	0.71417	0.935000	0.37517	0.907000	0.53573	6.504000	0.73704	2.154000	0.67381	0.482000	0.46254	ACA		PASS	0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		20	154	20	154	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218679638	218679638	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:218679638G>T	ENST00000171887.4	-	25	4866	c.4414C>A	c.(4414-4416)Cag>Aag	p.Q1472K	TNS1_ENST00000419504.1_Missense_Mutation_p.Q1459K|TNS1_ENST00000430930.1_Missense_Mutation_p.Q1451K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.Q1472K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CACTCACCCTGCTCCCTGGAG	0.547																																						uc002vgt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(4414-4416)CAG>AAG		tensin							66.0	57.0	60.0					2																	218679638		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218679638G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4414C>A	2.37:g.218679638G>T	ENSP00000171887:p.Gln1472Lys					TNS1_uc002vgr.2_Missense_Mutation_p.Q1459K|TNS1_uc002vgs.2_Missense_Mutation_p.Q1451K|TNS1_uc002vgq.2_5'Flank	p.Q1472K	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	25	4812	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1472			SH2.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.4414C>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545387	0.86022	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.36	5.36	0.76844	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.92795	0.7709	L	0.47016	1.485	0.80722	D	1	D;P;P	0.58268	0.982;0.927;0.942	D;D;D	0.74674	0.984;0.975;0.978	D	0.93002	0.6424	10	0.72032	D	0.01	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	1472;1451;1459	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	K	1472;610;1459;1451	ENSP00000171887:Q1472K;ENSP00000394171:Q610K;ENSP00000408724:Q1459K;ENSP00000406016:Q1451K	ENSP00000171887:Q1472K	Q	-	1	0	TNS1	218387883	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.563000	0.98148	2.797000	0.96272	0.563000	0.77884	CAG		PASS	0.547	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		20	18	20	18	---	---	---	---
PRKAG3	53632	broad.mit.edu	37	2	219694732	219694732	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:219694732G>T	ENST00000529249.1	-	4	917	c.602C>A	c.(601-603)tCc>tAc	p.S201Y	PRKAG3_ENST00000392098.3_Missense_Mutation_p.S201Y|PRKAG3_ENST00000545803.1_Missense_Mutation_p.S17Y|PRKAG3_ENST00000439262.2_Missense_Mutation_p.S176Y			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	201	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.S201Y(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GACTAGCTTGGAGCTAGTTGC	0.607																																						uc002vjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(601-603)TCC>TAC		AMP-activated protein kinase, non-catalytic							73.0	62.0	66.0					2																	219694732		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219694732G>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.602C>A	2.37:g.219694732G>T	ENSP00000436068:p.Ser201Tyr					PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S201Y|PRKAG3_uc010zko.1_Missense_Mutation_p.S197Y	p.S201Y	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	621	-		Renal(207;0.0474)	201			CBS 1.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.602C>A	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191447	0.78902	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249;ENST00000392098	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	5.18	5.18	0.71444	Cystathionine beta-synthase, core (1);	0.105416	0.64402	D	0.000002	D	0.93284	0.7860	L	0.46157	1.445	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.79108	0.989;0.992;0.982	D	0.90301	0.4330	10	0.21014	T	0.42	-26.5421	12.3024	0.54882	0.0:0.2709:0.729:0.0	.	201;176;201	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	Y	176;17;201;201	ENSP00000397133:S176Y;ENSP00000444536:S17Y;ENSP00000436068:S201Y;ENSP00000375947:S201Y	ENSP00000233944:S201Y	S	-	2	0	PRKAG3	219402976	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.017000	0.64047	2.707000	0.92482	0.655000	0.94253	TCC		PASS	0.607	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			19	115	19	115	---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219735919	219735919	+	Missense_Mutation	SNP	G	G	T	rs140404341		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:219735919G>T	ENST00000233948.3	+	2	468	c.251G>T	c.(250-252)cGc>cTc	p.R84L	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	84					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R84L(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTTCCGCCGCTGGAATTGC	0.667																																						uc002vjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(250-252)CGC>CTC		wingless-type MMTV integration site family,							34.0	43.0	40.0					2																	219735919		2201	4296	6497	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735919G>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.251G>T	2.37:g.219735919G>T	ENSP00000233948:p.Arg84Leu						p.R84L	NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	466	+		Renal(207;0.0474)	84					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.251G>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	36	5.690404	0.96793	.	.	ENSG00000115596	ENST00000233948	T	0.80738	-1.41	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.89353	3.025	0.80722	D	1	D	0.69078	0.997	P	0.57960	0.83	D	0.92028	0.5631	10	0.87932	D	0	.	17.3339	0.87274	0.0:0.0:1.0:0.0	.	84	Q9Y6F9	WNT6_HUMAN	L	84	ENSP00000233948:R84L	ENSP00000233948:R84L	R	+	2	0	WNT6	219444163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.336000	0.79503	0.586000	0.80456	CGC		PASS	0.667	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		14	67	14	67	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225346609	225346609	+	Splice_Site	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:225346609C>A	ENST00000264414.4	-	14	2367	c.2029G>T	c.(2029-2031)Gtt>Ttt	p.V677F	CUL3_ENST00000409777.1_Splice_Site_p.V653F|CUL3_ENST00000409096.1_Splice_Site_p.V653F|CUL3_ENST00000344951.4_Splice_Site_p.V611F	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	677					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.V677F(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)		TTCCAGATACCTGTTTGAATC	0.264																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(2029-2031)GTT>TTT		cullin 3							94.0	92.0	93.0					2																	225346609		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:225346609C>A	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.2029+1G>T	2.37:g.225346609C>A						CUL3_uc010zls.1_Missense_Mutation_p.V611F|CUL3_uc010fwy.1_Missense_Mutation_p.V683F	p.V677F	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)	14	2413	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	677					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.2029G>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294667	0.95546	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74947	-0.58;-0.3;-0.89;-0.89	5.85	5.85	0.93711	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.057579	0.64402	D	0.000001	D	0.86977	0.6063	M	0.85945	2.785	0.80722	D	1	P;B;B	0.47034	0.889;0.417;0.417	P;B;P	0.58620	0.831;0.306;0.842	D	0.86552	0.1835	9	.	.	.	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	611;655;677	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	F	677;611;653;653	ENSP00000264414:V677F;ENSP00000343601:V611F;ENSP00000387200:V653F;ENSP00000386525:V653F	.	V	-	1	0	CUL3	225054853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.771000	0.68881	2.753000	0.94483	0.655000	0.94253	GTT		PASS	0.264	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Missense_Mutation	75	101	75	101	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228162414	228162414	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:228162414C>A	ENST00000396578.3	+	42	3752	c.3590C>A	c.(3589-3591)cCa>cAa	p.P1197Q	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1197	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.P1197Q(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)		AGGGGAGCCCCAGGTTTTCCT	0.522																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(3589-3591)CCA>CAA		alpha 3 type IV collagen isoform 1 precursor							15.0	18.0	17.0					2																	228162414		1833	4077	5910	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.chr2:228162414C>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.3590C>A	2.37:g.228162414C>A	ENSP00000379823:p.Pro1197Gln					COL4A3_uc002von.1_Missense_Mutation_p.P1197Q|COL4A3_uc002voo.1_Missense_Mutation_p.P1197Q|COL4A3_uc002vop.1_Missense_Mutation_p.P1197Q|uc002voq.1_Intron|uc002vor.1_Intron	p.P1197Q	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)	42	3752	+		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)	1197			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3590C>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306152	0.23736	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97752	-4.52	5.54	4.66	0.58398	.	0.216049	0.32802	N	0.005623	D	0.97801	0.9278	L	0.49256	1.55	0.43417	D	0.995562	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.72338	0.967;0.967;0.977;0.977	D	0.97677	1.0170	10	0.48119	T	0.1	.	12.5592	0.56271	0.0:0.9227:0.0:0.0773	.	1197;1197;1197;1197	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	Q	1197	ENSP00000379823:P1197Q	ENSP00000323334:P1197Q	P	+	2	0	COL4A3	227870658	0.996000	0.38824	0.097000	0.21041	0.018000	0.09664	4.302000	0.59092	1.339000	0.45563	0.462000	0.41574	CCA		PASS	0.522	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		12	15	12	15	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884363	228884363	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:228884363C>A	ENST00000392056.3	-	7	1253	c.1207G>T	c.(1207-1209)Gca>Tca	p.A403S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A403S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	403						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A403S(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAATAAATGCATCCTGCAGC	0.443																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(1207-1209)GCA>TCA		sphingosine kinase type 1-interacting protein							160.0	143.0	149.0					2																	228884363		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884363C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1207G>T	2.37:g.228884363C>A	ENSP00000375909:p.Ala403Ser					SPHKAP_uc002vpp.2_Missense_Mutation_p.A403S|SPHKAP_uc010zlx.1_Missense_Mutation_p.A403S	p.A403S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1254	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	403					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1207G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302453	0.81136	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27256	1.68;1.7	5.79	4.9	0.64082	.	0.048846	0.85682	D	0.000000	T	0.50888	0.1642	M	0.77616	2.38	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	P;D	0.80764	0.862;0.994	T	0.52852	-0.8520	10	0.72032	D	0.01	.	13.3583	0.60642	0.0:0.9252:0.0:0.0748	.	403;403	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	S	403	ENSP00000375909:A403S;ENSP00000339886:A403S	ENSP00000339886:A403S	A	-	1	0	SPHKAP	228592607	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.496000	0.66918	2.746000	0.94184	0.655000	0.94253	GCA		PASS	0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		18	155	18	155	---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230910733	230910733	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:230910733A>G	ENST00000295190.4	-	4	1567	c.1109T>C	c.(1108-1110)cTg>cCg	p.L370P		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	370						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L370P(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATGACGCCCAGGATCACTTT	0.433																																						uc002vqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1108-1110)CTG>CCG		solute carrier family 16 (monocarboxylic acid							100.0	88.0	92.0					2																	230910733		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230910733A>G	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1109T>C	2.37:g.230910733A>G	ENSP00000295190:p.Leu370Pro					FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.L370P|SLC16A14_uc002vqf.2_Missense_Mutation_p.L370P	p.L370P	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1472	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	370			Helical; (Potential).		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.1109T>C	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867646	0.72065	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.60548	0.18;0.18;0.18	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.47455	D	0.000238	T	0.73729	0.3624	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.74490	-0.3648	10	0.41790	T	0.15	.	14.5447	0.68020	1.0:0.0:0.0:0.0	.	370;370	E7EMG7;Q7RTX9	.;MOT14_HUMAN	P	370	ENSP00000295190:L370P;ENSP00000400352:L370P;ENSP00000395775:L370P	ENSP00000295190:L370P	L	-	2	0	SLC16A14	230618977	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.037000	0.88933	2.022000	0.59522	0.379000	0.24179	CTG		PASS	0.433	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		14	110	14	110	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234869590	234869590	+	Silent	SNP	C	C	T	rs139460470		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:234869590C>T	ENST00000324695.4	+	12	1573	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	TRPM8_ENST00000433712.2_Silent_p.I199I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	511					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I511I(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATCTGCAGATCGCCAAGAATT	0.507																																						uc002vvh.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(1531-1533)ATC>ATT		transient receptor potential cation channel,	Menthol(DB00825)	C		0,4406		0,0,2203	117.0	99.0	105.0		1533	-11.6	0.2	2	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPM8	NM_024080.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		511/1105	234869590	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234869590C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1533C>T	2.37:g.234869590C>T						TRPM8_uc010fyj.2_Silent_p.I199I	p.I511I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1573	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	511			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.1533C>T	CCDS33407.1																																																																																				PASS	0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		13	87	13	87	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9490205	9490205	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:9490205C>T	ENST00000406341.1	+	15	2427	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	SETD5_ENST00000402198.1_Missense_Mutation_p.P746L|SETD5_ENST00000302463.6_Missense_Mutation_p.P648L|SETD5_ENST00000407969.1_Missense_Mutation_p.P765L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402466.1_Missense_Mutation_p.P648L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	746								p.P746L(1)|p.P648L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATCCATTCCCCGTTAATTTGC	0.512																																						uc003brt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2236-2238)CCG>CTG		SET domain containing 5							132.0	128.0	130.0					3																	9490205		1947	4154	6101	SO:0001583	missense	55209							g.chr3:9490205C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2237C>T	3.37:g.9490205C>T	ENSP00000383939:p.Pro746Leu					SETD5_uc003brs.1_Missense_Mutation_p.P727L|SETD5_uc003bru.2_Missense_Mutation_p.P648L|SETD5_uc003brv.2_Missense_Mutation_p.P635L|SETD5_uc010hck.2_Missense_Mutation_p.P228L|SETD5_uc003brx.2_Missense_Mutation_p.P415L	p.P746L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	16	2672	+	Medulloblastoma(99;0.227)		746					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2237C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590442	0.86851	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94576	-3.09;-3.46;-3.09;-3.06;-3.46	5.76	5.76	0.90799	.	0.056069	0.64402	D	0.000001	D	0.97021	0.9027	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.926;0.926	D	0.97178	0.9849	10	0.87932	D	0	-9.7702	19.976	0.97309	0.0:1.0:0.0:0.0	.	415;648;746;765	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	L	746;648;746;765;648	ENSP00000385852:P746L;ENSP00000384429:P648L;ENSP00000383939:P746L;ENSP00000384114:P765L;ENSP00000302028:P648L	ENSP00000302028:P648L	P	+	2	0	SETD5	9465205	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	7.487000	0.81328	2.713000	0.92767	0.655000	0.94253	CCG		PASS	0.512	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		34	36	34	36	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15118644	15118644	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:15118644G>T	ENST00000253699.3	-	12	1639	c.1026C>A	c.(1024-1026)aaC>aaA	p.N342K	ZFYVE20_ENST00000449964.2_5'Flank|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.N342K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	342	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.N342K(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GAGGGTCCTGGTTCAAGCCCA	0.433																																						uc003bzm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1024-1026)AAC>AAA		FYVE-finger-containing Rab5 effector protein							169.0	161.0	164.0					3																	15118644		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15118644G>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1026C>A	3.37:g.15118644G>T	ENSP00000253699:p.Asn342Lys					ZFYVE20_uc010hek.1_Missense_Mutation_p.N342K	p.N342K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			12	1640	-			342			Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1026C>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054193	0.19907	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.50277	0.75;0.75	5.9	2.0	0.26442	.	0.182612	0.56097	N	0.000023	T	0.18593	0.0446	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04360	-1.0957	10	0.17369	T	0.5	-22.2595	1.8203	0.03109	0.1848:0.1233:0.4558:0.2362	.	342	Q9H1K0	RBNS5_HUMAN	K	342;342;44	ENSP00000253699:N342K;ENSP00000422551:N342K	ENSP00000253699:N342K	N	-	3	2	ZFYVE20	15093648	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.590000	0.23954	0.366000	0.24427	0.591000	0.81541	AAC		PASS	0.433	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	118	4	118	---	---	---	---
PRSS42	339906	broad.mit.edu	37	3	46871929	46871929	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:46871929C>T	ENST00000429665.1	-	5	846	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	PRSS42_ENST00000447340.1_3'UTR	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	283	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G283R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CTCACAATCCCTACCTGGACC	0.483																																						uc011bap.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(847-849)GGG>AGG		testis serine protease 2 precursor							49.0	51.0	50.0					3																	46871929		1911	4125	6036	SO:0001583	missense	339906				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:46871929C>T		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.847G>A	3.37:g.46871929C>T	ENSP00000401701:p.Gly283Arg					PRSS42_uc003cqj.2_3'UTR	p.G283R	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN			5	847	-			283			Peptidase S1.			Missense_Mutation	SNP	ENST00000429665.1	37	c.847G>A	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520002	0.64634	.	.	ENSG00000178055	ENST00000429665	D	0.81499	-1.5	4.36	4.36	0.52297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32987	N	0.005417	D	0.93976	0.8071	H	0.99261	4.49	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96116	0.9081	10	0.87932	D	0	.	14.8301	0.70142	0.0:1.0:0.0:0.0	.	283	Q7Z5A4	PRS42_HUMAN	R	283	ENSP00000401701:G283R	ENSP00000401701:G283R	G	-	1	0	PRSS42	46846933	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	6.775000	0.75018	2.441000	0.82636	0.650000	0.86243	GGG		PASS	0.483	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702		7	6	7	6	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48628960	48628960	+	Nonsense_Mutation	SNP	G	G	A	rs368007918		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:48628960G>A	ENST00000328333.8	-	12	1680	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.R525*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	525	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				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.R525*(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)		CAGGACACTCGCACCCGCTGC	0.662																																						uc003ctz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11	GRCh37	CM992836	COL7A1	M		c.(1573-1575)CGA>TGA		alpha 1 type VII collagen precursor		G	stop/ARG	0,4406		0,0,2203	63.0	69.0	67.0		1573	3.9	0.9	3		67	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	COL7A1	NM_000094.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		525/2945	48628960	1,13005	2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48628960G>A	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.1573C>T	3.37:g.48628960G>A	ENSP00000332371:p.Arg525*						p.R525*	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)	12	1574	-			525			Fibronectin type-III 4.|Nonhelical region (NC1).		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.1573C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	39	7.370289	0.98241	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	4.82	3.93	0.45458	.	0.674086	0.12330	N	0.478466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9416	0.70997	0.0:0.0:0.8555:0.1445	.	.	.	.	X	525	.	ENSP00000332371:R525X	R	-	1	2	COL7A1	48603964	0.991000	0.36638	0.851000	0.33527	0.911000	0.54048	2.180000	0.42537	1.304000	0.44892	0.561000	0.74099	CGA		PASS	0.662	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		59	45	59	45	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689698	49689698	+	Silent	SNP	G	G	T	rs368833098		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:49689698G>T	ENST00000296452.4	+	5	2823	c.2709G>T	c.(2707-2709)acG>acT	p.T903T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	903					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.T903T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATGCCACCACGGGCTATGAGG	0.637																																						uc003cxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2707-2709)ACG>ACT		bassoon protein							24.0	26.0	25.0					3																	49689698		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689698G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2709G>T	3.37:g.49689698G>T							p.T903T	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2823	+			903					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.2709G>T	CCDS2800.1																																																																																				PASS	0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	11	8	11	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50311390	50311390	+	RNA	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:50311390G>A	ENST00000418948.1	+	0	1273							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.V346M(1)		central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATGAACGACGTGCGCCGGGC	0.682											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cyu.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(1039-1041)GTG>ATG		semaphorin 3B isoform 1 precursor							40.0	42.0	41.0					3																	50311390		2009	4180	6189			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311390G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311390G>A			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	SEMA3B_uc003cyt.2_Missense_Mutation_p.V346M|SEMA3B_uc003cyv.2_Missense_Mutation_p.V234M|SEMA3B_uc003cyw.2_Missense_Mutation_p.V70M|SEMA3B_uc010hli.2_Missense_Mutation_p.V239M|SEMA3B_uc003cyx.2_Missense_Mutation_p.V233M|SEMA3B_uc003cyy.2_Missense_Mutation_p.V4M|SEMA3B_uc011bdo.1_Missense_Mutation_p.V4M	p.V347M	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	12	1281	+			347			Sema.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37	c.1039G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.080697	0.76528	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.57	3.7	0.42460	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.174258	0.50627	D	0.000106	T	0.73249	0.3563	.	.	.	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.945;0.992;0.945;0.983	T	0.81473	-0.0917	7	0.87932	D	0	.	10.2458	0.43341	0.0974:0.0:0.9026:0.0	.	346;96;346;347	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	M	346	.	ENSP00000446262:V346M	V	+	1	0	SEMA3B	50286394	0.998000	0.40836	0.712000	0.30502	0.981000	0.71138	3.164000	0.50770	1.160000	0.42584	0.551000	0.68910	GTG		PASS	0.682	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		33	15	33	15	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64133035	64133035	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:64133035G>A	ENST00000295902.6	-	7	1716	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	PRICKLE2_ENST00000564377.1_Silent_p.D433D	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	377					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D377D(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGCTGAGCATGTCCATCTGCA	0.602																																						uc003dmf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1129-1131)GAC>GAT		prickle-like 2							84.0	93.0	90.0					3																	64133035		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133035G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1131C>T	3.37:g.64133035G>A							p.D377D	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1717	-		Lung NSC(201;0.136)	377					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.1131C>T	CCDS2902.1																																																																																				PASS	0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		72	58	72	58	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69097222	69097222	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:69097222T>A	ENST00000398559.2	-	2	850	c.634A>T	c.(634-636)Aat>Tat	p.N212Y	MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.N212Y|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	212					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.N212Y(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTAGACGTATTAGATATACTT	0.378																																						uc003dnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)AAT>TAT		TATA element modulatory factor 1							154.0	149.0	151.0					3																	69097222		1906	4131	6037	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097222T>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.634A>T	3.37:g.69097222T>A	ENSP00000381567:p.Asn212Tyr					TMF1_uc011bfx.1_Missense_Mutation_p.N212Y	p.N212Y	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	881	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	212					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.634A>T	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	4.615	0.114352	0.08831	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.78003	-1.14;-1.14	5.8	-1.49	0.08718	.	1.037990	0.07460	N	0.900393	T	0.59169	0.2174	N	0.22421	0.69	0.09310	N	1	P;P	0.39181	0.663;0.533	B;B	0.36289	0.221;0.11	T	0.51756	-0.8665	10	0.66056	D	0.02	-1.1767	2.3478	0.04276	0.1127:0.155:0.3478:0.3846	.	212;212	P82094-2;P82094	.;TMF1_HUMAN	Y	212;212;125;212	ENSP00000381567:N212Y;ENSP00000438706:N212Y	ENSP00000348582:N125Y	N	-	1	0	TMF1	69179912	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.205000	0.17356	-0.472000	0.06881	-0.290000	0.09829	AAT		PASS	0.378	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		110	93	110	93	---	---	---	---
MAATS1	89876	broad.mit.edu	37	3	119426380	119426380	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:119426380C>G	ENST00000273390.5	+	3	408	c.331C>G	c.(331-333)Cac>Gac	p.H111D	MAATS1_ENST00000463700.1_Missense_Mutation_p.H111D	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	111						mitochondrion (GO:0005739)		p.H111D(1)									TAAGGAGAAACACAGAGAAGC	0.438																																						uc010hqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(331-333)CAC>GAC		RecName: Full=AMY-1-associating protein expressed in testis 1;          Short=AAT-1;							54.0	56.0	55.0					3																	119426380		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119426380C>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.331C>G	3.37:g.119426380C>G	ENSP00000273390:p.His111Asp					C3orf15_uc003edc.2_Missense_Mutation_p.H111D|C3orf15_uc010hqy.1_Missense_Mutation_p.H111D|C3orf15_uc003ede.3_Missense_Mutation_p.H111D|C3orf15_uc010hqz.2_Missense_Mutation_p.H49D|C3orf15_uc011bjd.1_Intron|C3orf15_uc011bje.1_Missense_Mutation_p.H91D|C3orf15_uc010hra.1_5'UTR	p.H111D			Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	3	408	+			111					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.331C>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549350	0.27652	.	.	ENSG00000183833	ENST00000383667;ENST00000273390;ENST00000463700	T;T	0.42900	1.97;0.96	5.58	4.71	0.59529	.	0.875320	0.10068	N	0.720058	T	0.33585	0.0868	L	0.42245	1.32	0.09310	N	1	B;B;P;P;P	0.43352	0.228;0.0;0.646;0.493;0.804	B;B;B;B;B	0.39152	0.076;0.005;0.234;0.124;0.292	T	0.05053	-1.0909	10	0.07813	T	0.8	-2.0694	11.7282	0.51722	0.0:0.9167:0.0:0.0833	.	111;49;111;111;111	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	D	111	ENSP00000273390:H111D;ENSP00000419489:H111D	ENSP00000273390:H111D	H	+	1	0	C3orf15	120909070	0.847000	0.29606	0.003000	0.11579	0.052000	0.14988	1.627000	0.37050	1.369000	0.46134	-0.145000	0.13849	CAC		PASS	0.438	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		16	84	16	84	---	---	---	---
HCLS1	3059	broad.mit.edu	37	3	121351918	121351918	+	Missense_Mutation	SNP	G	G	A	rs150723074	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:121351918G>A	ENST00000314583.3	-	11	1095	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L	HCLS1_ENST00000428394.2_Missense_Mutation_p.P298L|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	335					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.P335L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCTTACCTCCGGGAGAGTCTG	0.582													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17105	0.0		0.0	False		,,,				2504	0.0					uc003eeh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)CCG>CTG		hematopoietic cell-specific Lyn substrate 1		G	LEU/PRO	12,4394	19.1+/-41.9	0,12,2191	40.0	39.0	39.0		1004	-1.1	0.0	3	dbSNP_134	39	0,8600		0,0,4300	yes	missense	HCLS1	NM_005335.4	98	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign	335/487	121351918	12,12994	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351918G>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1004C>T	3.37:g.121351918G>A	ENSP00000320176:p.Pro335Leu					HCLS1_uc011bjj.1_Missense_Mutation_p.P298L|HCLS1_uc011bjk.1_RNA	p.P335L	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	11	1129	-			335					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1004C>T	CCDS3003.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	8.942	0.965946	0.18659	0.002724	0.0	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.22945	1.96;1.93	5.14	-1.15	0.09709	.	1.361160	0.04405	N	0.365062	T	0.09730	0.0239	N	0.17082	0.46	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.04013	0.0;0.001	T	0.20207	-1.0282	10	0.36615	T	0.2	3.1588	1.4591	0.02391	0.3231:0.1332:0.4072:0.1365	.	298;335	E7EVW7;P14317	.;HCLS1_HUMAN	L	335;298	ENSP00000320176:P335L;ENSP00000387645:P298L	ENSP00000320176:P335L	P	-	2	0	HCLS1	122834608	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.605000	0.05661	-0.356000	0.08187	-0.890000	0.02929	CCG		PASS	0.582	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		14	22	14	22	---	---	---	---
CASR	846	broad.mit.edu	37	3	121976229	121976229	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:121976229C>T	ENST00000490131.1	+	3	859	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	CASR_ENST00000498619.1_Missense_Mutation_p.P163S|CASR_ENST00000296154.5_Missense_Mutation_p.P163S	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	163					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.P163S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTCTACATTCCCCAGGTACT	0.567																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(487-489)CCC>TCC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						42.0	42.0	42.0					3																	121976229		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121976229C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.487C>T	3.37:g.121976229C>T	ENSP00000418685:p.Pro163Ser					CASR_uc003eew.3_Missense_Mutation_p.P163S	p.P163S	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	859	+			163			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.487C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260009	0.95368	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.92199	-2.99;-2.99;-2.99	5.75	5.75	0.90469	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.047828	0.85682	D	0.000000	D	0.95506	0.8540	M	0.87328	2.875	0.80722	D	1	P;D	0.60160	0.885;0.987	P;P	0.54889	0.589;0.763	D	0.95866	0.8887	10	0.72032	D	0.01	.	17.1038	0.86656	0.0:1.0:0.0:0.0	.	163;163	E7ENE0;P41180	.;CASR_HUMAN	S	163	ENSP00000418685:P163S;ENSP00000420194:P163S;ENSP00000296154:P163S	ENSP00000296154:P163S	P	+	1	0	CASR	123458919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.712000	0.92718	0.591000	0.81541	CCC		PASS	0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		48	59	48	59	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124356067	124356067	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:124356067C>A	ENST00000291478.5	+	4	650	c.487C>A	c.(487-489)Cta>Ata	p.L163I	KALRN_ENST00000459915.1_5'UTR|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000393496.1_Intron|KALRN_ENST00000360013.3_Missense_Mutation_p.L1860I	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1859	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L163I(1)|p.L1860I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCCTCTTTGCTAGCAGCCCG	0.473																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5578-5580)CTA>ATA		kalirin, RhoGEF kinase isoform 1							114.0	116.0	115.0					3																	124356067		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124356067C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.487C>A	3.37:g.124356067C>A	ENSP00000291478:p.Leu163Ile					KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Missense_Mutation_p.L163I|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Intron	p.L1860I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			37	5705	+			1859					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.5578C>A	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.59|17.59	3.427228|3.427228	0.62733|0.62733	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478	.|T;T	.|0.62498	.|0.02;0.03	5.09|5.09	3.3|3.3	0.37823|0.37823	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	.|T	.|0.73329	.|0.3573	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;P	.|0.67145	.|0.996;0.9	.|P;B	.|0.60415	.|0.874;0.287	.|T	.|0.74907	.|-0.3504	.|10	.|0.62326	.|D	.|0.03	.|.	11.1892|11.1892	0.48675|0.48675	0.0:0.8529:0.0:0.1471|0.0:0.8529:0.0:0.1471	.|.	.|163;1859	.|C9JQ37;O60229	.|.;KALRN_HUMAN	X|I	1828|1860;163	.|ENSP00000353109:L1860I;ENSP00000291478:L163I	.|ENSP00000291478:L163I	C|L	+|+	3|1	2|2	KALRN|KALRN	125838757|125838757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.689000|3.689000	0.54706|0.54706	0.738000|0.738000	0.32606|0.32606	0.655000|0.655000	0.94253|0.94253	TGC|CTA		PASS	0.473	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		35	115	35	115	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130293249	130293250	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:130293249_130293250CA>AG	ENST00000358511.6	+	7	3458_3459	c.3427_3428CA>AG	c.(3427-3429)CAg>AGg	p.Q1143R	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q1143R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1143	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q1143R(2)|p.Q1143K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGGATGACCAGCAGCTCATT	0.525																																						uc010htl.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3427-3429)CAG>AAG|c.(3427-3429)CAG>CGG		collagen type VI alpha 6 precursor																																				SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130293249C>A|g.chr3:130293250A>G	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	Exception_encountered	3.37:g.130293249_130293250delinsAG	ENSP00000351310:p.Gln1143Arg						p.Q1143K|p.Q1143R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3458|3459	+			1143			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3427C>A|c.3428A>G	CCDS46911.1																																																																																				PASS	0.525	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		39|38	59|60	38	59	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133099870	133099870	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:133099870T>C	ENST00000321871.6	+	4	1525	c.1315T>C	c.(1315-1317)Tgg>Cgg	p.W439R	TMEM108_ENST00000393130.3_Missense_Mutation_p.W439R|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Missense_Mutation_p.W439R	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	439						integral component of membrane (GO:0016021)		p.W439R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CGCCGGGACCTGGAAGCCTGG	0.632																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1315-1317)TGG>CGG		transmembrane protein 108 precursor							72.0	70.0	71.0					3																	133099870		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133099870T>C	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.1315T>C	3.37:g.133099870T>C	ENSP00000324651:p.Trp439Arg					TMEM108_uc003epi.2_Missense_Mutation_p.W439R|TMEM108_uc003epj.1_Missense_Mutation_p.W439R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.W390R	p.W439R	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	1589	+			439			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.1315T>C	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306306	0.40795	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.47177	0.91;0.91;0.85	3.66	2.49	0.30216	.	0.103248	0.43579	D	0.000554	T	0.46405	0.1391	L	0.54323	1.7	0.34161	D	0.668686	P;B	0.45078	0.85;0.004	P;B	0.49085	0.6;0.004	T	0.54990	-0.8210	10	0.30078	T	0.28	-1.1839	7.4225	0.27079	0.0:0.1859:0.0:0.8141	.	439;439	E9PB58;Q6UXF1	.;TM108_HUMAN	R	439	ENSP00000324651:W439R;ENSP00000376838:W439R;ENSP00000423338:W439R	ENSP00000324651:W439R	W	+	1	0	TMEM108	134582560	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.962000	0.29280	0.596000	0.29794	0.459000	0.35465	TGG		PASS	0.632	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		12	84	12	84	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142037719	142037719	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:142037719T>C	ENST00000264951.4	-	38	4545	c.4428A>G	c.(4426-4428)ttA>ttG	p.L1476L	XRN1_ENST00000392981.2_Silent_p.L1477L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1476					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L1476L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCCATTAGATAATTTTACTT	0.378																																						uc003eus.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(4426-4428)TTA>TTG		5'-3' exoribonuclease 1 isoform a							86.0	85.0	85.0					3																	142037719		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142037719T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4428A>G	3.37:g.142037719T>C						XRN1_uc010huu.2_Silent_p.L943L|XRN1_uc003eut.2_Silent_p.L1476L|XRN1_uc003euu.2_Silent_p.L1477L	p.L1476L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			38	4495	-			1476					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4428A>G	CCDS3123.1																																																																																				PASS	0.378	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		16	136	16	136	---	---	---	---
CP	1356	broad.mit.edu	37	3	148895720	148895720	+	Silent	SNP	G	G	A	rs377478882		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:148895720G>A	ENST00000264613.6	-	17	3187	c.2925C>T	c.(2923-2925)caC>caT	p.H975H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	975	F5/8 type A 3.|Plastocyanin-like 6.				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.H975H(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)	CATCTCCCACGTGCATTGTGA	0.393													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18965	0.0		0.0	False		,,,				2504	0.0					uc003ewy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2923-2925)CAC>CAT		ceruloplasmin precursor	Drotrecogin alfa(DB00055)	A		2,4404	4.2+/-10.8	0,2,2201	228.0	195.0	206.0		2925	-9.1	0.0	3		206	0,8600		0,0,4300	no	coding-synonymous	CP	NM_000096.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		975/1066	148895720	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895720G>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2925C>T	3.37:g.148895720G>A						CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.H127H|CP_uc003ewx.3_Silent_p.H756H|CP_uc003ewz.2_Silent_p.H975H	p.H975H	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3178	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	975			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2925C>T	CCDS3141.1																																																																																				PASS	0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		25	217	25	217	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150908645	150908645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:150908645C>A	ENST00000474524.1	+	13	1933	c.1895C>A	c.(1894-1896)tCa>tAa	p.S632*	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Nonsense_Mutation_p.S492*|MED12L_ENST00000422248.2_Nonsense_Mutation_p.S632*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.S632*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	632						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S632*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCACTGCCTCAACTCGGCCG	0.507																																						uc003eyp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1894-1896)TCA>TAA		mediator of RNA polymerase II transcription,							124.0	104.0	111.0					3																	150908645		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908645C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1895C>A	3.37:g.150908645C>A	ENSP00000417235:p.Ser632*					MED12L_uc011bnz.1_Nonsense_Mutation_p.S492*|MED12L_uc003eyn.2_Nonsense_Mutation_p.S632*|MED12L_uc003eyo.2_Nonsense_Mutation_p.S632*	p.S632*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1933	+			632					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.1895C>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	38	7.094392	0.98059	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	.	.	.	4.99	4.99	0.66335	.	0.189975	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6937	13.9418	0.64059	0.0:0.8477:0.1523:0.0	.	.	.	.	X	632;632;632;492	.	ENSP00000273432:S492X	S	+	2	0	MED12L	152391335	1.000000	0.71417	0.961000	0.40146	0.471000	0.32888	5.300000	0.65721	2.487000	0.83934	0.655000	0.94253	TCA		PASS	0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	117	4	117	---	---	---	---
PPM1L	151742	broad.mit.edu	37	3	160474330	160474330	+	Silent	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:160474330C>G	ENST00000498165.1	+	1	335	c.234C>G	c.(232-234)ctC>ctG	p.L78L	RP11-16N11.2_ENST00000566372.1_RNA|PPM1L_ENST00000497343.1_Silent_p.L78L	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	78					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.L78L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTGATGTGCTCGAGGCCGAGT	0.582																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(232-234)CTC>CTG		protein phosphatase 1 (formerly 2C)-like							99.0	81.0	87.0					3																	160474330		2203	4300	6503	SO:0001819	synonymous_variant	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160474330C>G	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.234C>G	3.37:g.160474330C>G							p.L78L	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	335	+			78			Cytoplasmic (Potential).		Q2M3J2|Q96NM7	Silent	SNP	ENST00000498165.1	37	c.234C>G	CCDS33886.1																																																																																				PASS	0.582	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		12	56	12	56	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168819910	168819910	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:168819910C>A	ENST00000464456.1	-	9	3318	c.2118G>T	c.(2116-2118)agG>agT	p.R706S	MECOM_ENST00000460814.1_Missense_Mutation_p.R706S|MECOM_ENST00000392736.3_Missense_Mutation_p.R715S|MECOM_ENST00000494292.1_Missense_Mutation_p.R894S|MECOM_ENST00000472280.1_Missense_Mutation_p.R716S|MECOM_ENST00000433243.2_Missense_Mutation_p.R716S|MECOM_ENST00000264674.3_Missense_Mutation_p.R780S|MECOM_ENST00000468789.1_Missense_Mutation_p.R715S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R715S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGGAGGCGCCCTGAAGTTGA	0.502																																						uc003ffi.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2143-2145)AGG>AGT		MDS1 and EVI1 complex locus isoform b							77.0	71.0	73.0					3																	168819910		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168819910C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2118G>T	3.37:g.168819910C>A	ENSP00000419770:p.Arg706Ser					MECOM_uc010hwk.1_Missense_Mutation_p.R729S|MECOM_uc003ffj.3_Missense_Mutation_p.R780S|MECOM_uc011bpi.1_Missense_Mutation_p.R707S|MECOM_uc003ffn.3_Missense_Mutation_p.R715S|MECOM_uc003ffk.2_Missense_Mutation_p.R706S|MECOM_uc003ffl.2_Missense_Mutation_p.R866S|MECOM_uc011bpj.1_Missense_Mutation_p.R903S|MECOM_uc011bpk.1_Missense_Mutation_p.R705S|MECOM_uc010hwn.2_Missense_Mutation_p.R894S	p.R715S	NM_005241	NP_005232	Q03112	EVI1_HUMAN			10	2414	-			715					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2145G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562991	0.13498	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06933	3.3;3.29;3.25;3.39;3.25;3.29;3.24;3.39	5.45	-5.08	0.02929	.	0.160649	0.43747	D	0.000536	T	0.07458	0.0188	M	0.62723	1.935	0.53688	D	0.999973	B;B;P;P;B	0.40660	0.332;0.027;0.611;0.726;0.224	B;B;B;B;B	0.39217	0.117;0.015;0.08;0.294;0.08	T	0.15780	-1.0425	10	0.24483	T	0.36	-15.4025	9.4751	0.38867	0.0:0.4173:0.1004:0.4823	.	903;707;894;780;715	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	780;715;706;716;894;715;706;716	ENSP00000264674:R780S;ENSP00000376493:R715S;ENSP00000419770:R706S;ENSP00000420048:R716S;ENSP00000417899:R894S;ENSP00000419995:R715S;ENSP00000420466:R706S;ENSP00000394302:R716S	ENSP00000264674:R780S	R	-	3	2	MECOM	170302604	0.563000	0.26594	0.884000	0.34674	0.089000	0.18198	-0.256000	0.08757	-1.081000	0.03105	-0.982000	0.02568	AGG		PASS	0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		125	74	125	74	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169482820	169482820	+	IGR	SNP	A	A	T	rs199422259		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:169482820A>T	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AATGGCCACCACCCCTCCCAG	0.632																																						uc003ffr.1																			0					0								Homo sapiens cDNA clone IMAGE:40002477.							21.0	24.0	23.0					3																	169482820		876	1991	2867	SO:0001628	intergenic_variant	7012	Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic						g.chr3:169482820A>T	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			3.37:g.169482820A>T								NR_001566						1		-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37	c.29T>A	CCDS3206.1																																																																																				PASS	0.632	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		9	61	9	61	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173999027	173999027	+	Silent	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:173999027A>G	ENST00000457714.1	+	7	2835	c.2406A>G	c.(2404-2406)ggA>ggG	p.G802G	NLGN1_ENST00000361589.4_Silent_p.G802G|NLGN1_ENST00000401917.3_Silent_p.G842G|NLGN1_ENST00000545397.1_Silent_p.G802G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	819					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.G802G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATTTACTGGAGGACAGAACA	0.433																																						uc003fio.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2404-2406)GGA>GGG		neuroligin 1							138.0	124.0	129.0					3																	173999027		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173999027A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2406A>G	3.37:g.173999027A>G						NLGN1_uc003fip.1_Silent_p.G802G	p.G802G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2829	+	Ovarian(172;0.0025)		819			Cytoplasmic (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.2406A>G	CCDS3222.1																																																																																				PASS	0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		35	107	35	107	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180332791	180332791	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:180332791G>T	ENST00000442201.2	-	20	2863	c.2744C>A	c.(2743-2745)tCt>tAt	p.S915Y	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	915	Ser-rich.				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.S915Y(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)			TACTAGTGAAGAGGAGGCCGG	0.383																																						uc010hxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2743-2745)TCT>TAT		coiled-coil domain containing 39							47.0	43.0	44.0					3																	180332791		1822	4059	5881	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.chr3:180332791G>T	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.2744C>A	3.37:g.180332791G>T	ENSP00000405708:p.Ser915Tyr					CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	p.S915Y	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		20	2859	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		915			Ser-rich.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2744C>A	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.604926|2.604926	0.46423|0.46423	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000473854|ENST00000442201	.|.	.|.	.|.	4.61|4.61	3.69|3.69	0.42338|0.42338	.|.	.|.	.|.	.|.	.|.	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.36672|0.36672	1.1|1.1	0.21064|0.21064	N|N	0.999794|0.999794	.|P	.|0.36837	.|0.571	.|B	.|0.30646	.|0.118	T|T	0.11891|0.11891	-1.0569|-1.0569	5|8	.|0.59425	.|D	.|0.04	.|.	10.2673|10.2673	0.43462|0.43462	0.0:0.0:0.8015:0.1985|0.0:0.0:0.8015:0.1985	.|.	.|915	.|Q9UFE4	.|CCD39_HUMAN	I|Y	99|915	.|.	.|ENSP00000405708:S915Y	L|S	-|-	1|2	0|0	CCDC39|CCDC39	181815485|181815485	0.023000|0.023000	0.18921|0.18921	0.006000|0.006000	0.13384|0.13384	0.044000|0.044000	0.14063|0.14063	2.231000|2.231000	0.43009|0.43009	1.184000|1.184000	0.42957|0.42957	0.650000|0.650000	0.86243|0.86243	CTT|TCT		PASS	0.383	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		19	11	19	11	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080711	194080711	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:194080711C>T	ENST00000347624.3	-	2	1147	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	LRRC15_ENST00000439944.2_Silent_p.Q360Q|LRRC15_ENST00000428839.1_Silent_p.Q360Q	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	354					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.Q354Q(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CGTCCAGGTCCTGCAGTGCGT	0.582																																						uc003ftu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1060-1062)CAG>CAA		leucine rich repeat containing 15 isoform b							63.0	60.0	61.0					3																	194080711		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080711C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1062G>A	3.37:g.194080711C>T						LRRC15_uc003ftt.2_Silent_p.Q360Q	p.Q354Q	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1148	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		354			LRR 13.|Extracellular (Potential).		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.1062G>A	CCDS3306.1																																																																																				PASS	0.582	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			76	18	76	18	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195599179	195599179	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:195599179G>A	ENST00000333602.6	-	10	2036	c.1419C>T	c.(1417-1419)cgC>cgT	p.R473R	TNK2_ENST00000392400.1_Silent_p.R473R|TNK2_ENST00000316664.3_Silent_p.R473R|TNK2_ENST00000428187.1_Silent_p.R505R|TNK2_ENST00000381916.2_Silent_p.R536R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	473				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.R473R(2)|p.R536R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCCAGCAGTGGCGGGGGTCAC	0.677																																						uc003fvu.1																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1417-1419)CGC>CGT		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						44.0	36.0	39.0					3																	195599179		2203	4298	6501	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599179G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1419C>T	3.37:g.195599179G>A						TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Silent_p.R505R|TNK2_uc003fvt.1_Silent_p.R536R|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.R303R	p.R473R	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1962	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	473	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.1419C>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447459	0.26074	.	.	ENSG00000061938	ENST00000424563	.	.	.	5.45	3.44	0.39384	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49093	-0.8975	4	.	.	.	.	5.0229	0.14370	0.0814:0.2462:0.5319:0.1405	.	.	.	.	V	83	.	.	A	-	2	0	TNK2	197083576	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.147000	0.31602	1.300000	0.44818	0.561000	0.74099	GCC		PASS	0.677	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		37	36	37	36	---	---	---	---
PIGX	54965	broad.mit.edu	37	3	196449387	196449387	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr3:196449387C>T	ENST00000421265.1	+	3	208	c.155C>T	c.(154-156)cCg>cTg	p.P52L	PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.P52L			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	93					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)		p.P52L(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		TATGTGGATCCGTATGAGTTG	0.408																																						uc010iaj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CCG>CTG		phosphatidylinositol glycan anchor biosynthesis,							186.0	189.0	188.0					3																	196449387		2203	4300	6503	SO:0001583	missense	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196449387C>T	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.155C>T	3.37:g.196449387C>T	ENSP00000416446:p.Pro52Leu					PIGX_uc003fwx.3_Missense_Mutation_p.P52L|PIGX_uc011btx.1_RNA	p.P52L	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	3	436	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		93			Lumenal (Potential).		Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37	c.155C>T		.	.	.	.	.	.	.	.	.	.	C	24.2	4.500575	0.85176	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	6.05	6.05	0.98169	.	0.134656	0.49305	D	0.000142	T	0.51244	0.1663	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.29701	-1.0003	10	0.41790	T	0.15	-13.0729	17.5254	0.87799	0.0:1.0:0.0:0.0	.	93;93	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	L	52;93;52;93;52;52	ENSP00000409073:P52L;ENSP00000376192:P93L;ENSP00000317301:P52L;ENSP00000296333:P93L;ENSP00000416446:P52L;ENSP00000390804:P52L	ENSP00000296333:P93L	P	+	2	0	PIGX	197933784	0.995000	0.38212	0.985000	0.45067	0.958000	0.62258	4.145000	0.58065	2.880000	0.98712	0.655000	0.94253	CCG		PASS	0.408	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861		23	406	23	406	---	---	---	---
NKX3-2	579	broad.mit.edu	37	4	13544056	13544056	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:13544056C>A	ENST00000382438.5	-	2	1198	c.563G>T	c.(562-564)gGg>gTg	p.G188V		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	188	Poly-Gly.				determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|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 negative regulation of transcription (GO:0001078)	p.G188V(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						gcctgccggcccgctgccgcc	0.756																																						uc003gmx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GGG>GTG		NK3 homeobox 2							3.0	4.0	4.0					4																	13544056		1251	2883	4134	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13544056C>A	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.563G>T	4.37:g.13544056C>A	ENSP00000371875:p.Gly188Val						p.G188V	NM_001189	NP_001180	P78367	NKX32_HUMAN			2	639	-			188			Poly-Gly.		Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.563G>T	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495459	0.26774	.	.	ENSG00000109705	ENST00000382438	D	0.93604	-3.25	4.92	-1.66	0.08265	Homeodomain-related (1);	0.805990	0.10444	N	0.673904	D	0.82688	0.5091	N	0.14661	0.345	0.09310	N	0.999997	B	0.12013	0.005	B	0.16289	0.015	T	0.69320	-0.5176	10	0.30854	T	0.27	.	3.6861	0.08328	0.1112:0.3308:0.3944:0.1636	.	188	P78367	NKX32_HUMAN	V	188	ENSP00000371875:G188V	ENSP00000371875:G188V	G	-	2	0	NKX3-2	13153154	0.000000	0.05858	0.025000	0.17156	0.148000	0.21650	-0.966000	0.03825	-0.041000	0.13558	-1.157000	0.01802	GGG		PASS	0.756	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			4	3	4	3	---	---	---	---
MED28	80306	broad.mit.edu	37	4	17625255	17625255	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:17625255G>A	ENST00000237380.7	+	4	395	c.371G>A	c.(370-372)cGg>cAg	p.R124Q		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	124					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)		p.R124Q(1)		lung(6)|skin(2)	8						GAATTACAGCGGAAAGATGCA	0.473																																						uc003gpi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CGG>CAG		mediator complex subunit 28							76.0	68.0	70.0					4																	17625255		2203	4300	6503	SO:0001583	missense	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17625255G>A	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.371G>A	4.37:g.17625255G>A	ENSP00000237380:p.Arg124Gln					MED28_uc003gpj.2_RNA	p.R124Q	NM_025205	NP_079481	Q9H204	MED28_HUMAN			4	383	+			124			Potential.		Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	c.371G>A	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456195	0.84209	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	L	0.58583	1.82	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.76418	-0.2966	9	0.49607	T	0.09	.	19.7743	0.96385	0.0:0.0:1.0:0.0	.	124	Q9H204	MED28_HUMAN	Q	124;121	.	ENSP00000237380:R124Q	R	+	2	0	MED28	17234353	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	9.602000	0.98312	2.664000	0.90586	0.558000	0.71614	CGG		PASS	0.473	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		15	58	15	58	---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37591946	37591946	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:37591946G>T	ENST00000284437.6	+	3	447	c.269G>T	c.(268-270)gGa>gTa	p.G90V	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.G90V|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	90								p.G90V(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GGGGACGCTGGAGGGGAACAC	0.657																																						uc003gsw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GGA>GTA		hypothetical protein LOC55286							40.0	43.0	42.0					4																	37591946		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591946G>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.269G>T	4.37:g.37591946G>T	ENSP00000284437:p.Gly90Val					C4orf19_uc003gsy.3_Missense_Mutation_p.G90V	p.G90V	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN			4	452	+			90					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.269G>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	8.813	0.935656	0.18206	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.32988	1.43;1.43	5.14	-7.76	0.01232	.	1.367040	0.04702	N	0.415981	T	0.11239	0.0274	N	0.12182	0.205	0.09310	N	0.999999	B	0.20052	0.041	B	0.17433	0.018	T	0.24261	-1.0165	10	0.06236	T	0.91	-0.0513	4.2314	0.10604	0.1255:0.396:0.1109:0.3676	.	90	Q8IY42	CD019_HUMAN	V	90	ENSP00000371408:G90V;ENSP00000284437:G90V	ENSP00000284437:G90V	G	+	2	0	C4orf19	37268341	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.047000	0.03521	-1.642000	0.01521	-0.211000	0.12701	GGA		PASS	0.657	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		22	29	22	29	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48584548	48584548	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:48584548G>T	ENST00000503238.1	-	17	1951	c.1952C>A	c.(1951-1953)gCa>gAa	p.A651E	FRYL_ENST00000506685.1_Missense_Mutation_p.A357E|FRYL_ENST00000507711.1_Missense_Mutation_p.A651E|FRYL_ENST00000358350.4_Missense_Mutation_p.A651E|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A651E			O94915	FRYL_HUMAN	FRY-like	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.A651E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATTTGGGCTGCTTGTTTCCA	0.353																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1951-1953)GCA>GAA		furry-like							148.0	143.0	144.0					4																	48584548		1874	4104	5978	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48584548G>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1952C>A	4.37:g.48584548G>T	ENSP00000426064:p.Ala651Glu					FRYL_uc003gyk.2_Missense_Mutation_p.A651E	p.A651E	NM_015030	NP_055845	O94915	FRYL_HUMAN			20	2557	-			651					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.1952C>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981239	0.93044	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.64803	3.6;3.6;3.6;-0.12;-0.02	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.75788	0.3897	M	0.66939	2.045	0.80722	D	1	D;P	0.63880	0.993;0.757	D;B	0.70227	0.968;0.261	T	0.67960	-0.5535	10	0.08599	T	0.76	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	651;651	F2Z2S2;O94915	.;FRYL_HUMAN	E	651;651;651;651;357	ENSP00000426064:A651E;ENSP00000351113:A651E;ENSP00000441114:A651E;ENSP00000421584:A651E;ENSP00000425592:A357E	ENSP00000351113:A651E	A	-	2	0	FRYL	48279305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.798000	0.96311	0.655000	0.94253	GCA		PASS	0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			20	38	20	38	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49005876	49005876	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:49005876G>A	ENST00000226432.4	+	7	1110	c.927G>A	c.(925-927)ggG>ggA	p.G309G	CWH43_ENST00000513409.1_Silent_p.G282G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	309					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.G309G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTAACTCAGGGACAAACCCTG	0.463																																						uc003gyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(925-927)GGG>GGA		cell wall biogenesis 43 C-terminal homolog							111.0	94.0	100.0					4																	49005876		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005876G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.927G>A	4.37:g.49005876G>A						CWH43_uc011bzl.1_Silent_p.G282G	p.G309G	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			7	1109	+			309					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.927G>A	CCDS3486.1																																																																																				PASS	0.463	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		4	170	4	170	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70346381	70346381	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:70346381T>C	ENST00000305107.6	-	6	1604	c.1558A>G	c.(1558-1560)Aga>Gga	p.R520G	UGT2B4_ENST00000381096.3_Missense_Mutation_p.R384G|UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	520					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R520G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTTCCTGTTCTAACAAACTTC	0.418																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1558-1560)AGA>GGA		UDP glucuronosyltransferase 2B4 precursor							144.0	143.0	143.0					4																	70346381		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346381T>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1558A>G	4.37:g.70346381T>C	ENSP00000305221:p.Arg520Gly					UGT2B4_uc011cap.1_Missense_Mutation_p.R384G|UGT2B4_uc003hel.3_3'UTR	p.R520G	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1605	-			520					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1558A>G	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	8.812	0.935490	0.18206	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.58358	0.34;0.34	2.11	2.11	0.27256	.	0.250207	0.31082	U	0.008288	T	0.41789	0.1174	N	0.25380	0.74	0.09310	N	1	B;P	0.35307	0.003;0.494	B;P	0.46389	0.02;0.515	T	0.31806	-0.9930	10	0.09590	T	0.72	.	8.135	0.31050	0.0:0.0:0.0:1.0	.	384;520	A6NCP7;P06133	.;UD2B4_HUMAN	G	520;384	ENSP00000305221:R520G;ENSP00000370486:R384G	ENSP00000305221:R520G	R	-	1	2	UGT2B4	70380970	0.276000	0.24211	0.005000	0.12908	0.033000	0.12548	2.163000	0.42377	1.236000	0.43740	0.254000	0.18369	AGA		PASS	0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		29	140	29	140	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70346383	70346383	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:70346383A>G	ENST00000305107.6	-	6	1602	c.1556T>C	c.(1555-1557)gTt>gCt	p.V519A	UGT2B4_ENST00000381096.3_Missense_Mutation_p.V383A|UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	519					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V519A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TCCTGTTCTAACAAACTTCCA	0.418																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1555-1557)GTT>GCT		UDP glucuronosyltransferase 2B4 precursor							144.0	143.0	143.0					4																	70346383		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346383A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1556T>C	4.37:g.70346383A>G	ENSP00000305221:p.Val519Ala					UGT2B4_uc011cap.1_Missense_Mutation_p.V383A|UGT2B4_uc003hel.3_3'UTR	p.V519A	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1603	-			519					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1556T>C	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.606605	0.00842	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.63255	-0.03;-0.03	2.11	-4.22	0.03800	.	0.518139	0.17076	N	0.187976	T	0.31949	0.0813	N	0.11106	0.095	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.13791	-1.0496	10	0.12766	T	0.61	.	7.2599	0.26197	0.2686:0.4715:0.2598:0.0	.	383;519	A6NCP7;P06133	.;UD2B4_HUMAN	A	519;383	ENSP00000305221:V519A;ENSP00000370486:V383A	ENSP00000305221:V519A	V	-	2	0	UGT2B4	70380972	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-4.557000	0.00216	-2.929000	0.00301	-0.879000	0.02964	GTT		PASS	0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		29	141	29	141	---	---	---	---
UGT2A1	10941	broad.mit.edu	37	4	70512823	70512823	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:70512823T>C	ENST00000503640.1	-	1	595	c.540A>G	c.(538-540)gaA>gaG	p.E180E	UGT2A1_ENST00000286604.4_Silent_p.E180E|UGT2A1_ENST00000512704.1_Silent_p.E180E|UGT2A1_ENST00000514019.1_Silent_p.E180E	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	180					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E180E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CACAGTGCTTTTCCACTGTTG	0.413																																						uc003hem.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(538-540)GAA>GAG		UDP glucuronosyltransferase 2 family,							94.0	82.0	86.0					4																	70512823		2203	4299	6502	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70512823T>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.540A>G	4.37:g.70512823T>C						UGT2A1_uc011caq.1_Silent_p.E180E|UGT2A1_uc010ihu.2_Silent_p.E180E|UGT2A1_uc010iht.2_Silent_p.E180E	p.E180E	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	603	-			180			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.540A>G	CCDS3529.1																																																																																				PASS	0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		20	59	20	59	---	---	---	---
SMR3A	26952	broad.mit.edu	37	4	71227859	71227859	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:71227859C>A	ENST00000226460.4	+	2	123	c.27C>A	c.(25-27)ggC>ggA	p.G9G		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	9						extracellular region (GO:0005576)		p.G9G(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGATCTTGGGCCTTTGGGCTC	0.338																																						uc003hfg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(25-27)GGC>GGA		submaxillary gland androgen regulated protein 3							188.0	170.0	176.0					4																	71227859		2203	4297	6500	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71227859C>A	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.27C>A	4.37:g.71227859C>A						SMR3B_uc011cas.1_Silent_p.G9G	p.G9G	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			2	108	+		all_hematologic(202;0.196)	9						Silent	SNP	ENST00000226460.4	37	c.27C>A	CCDS34000.1																																																																																				PASS	0.338	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		15	197	15	197	---	---	---	---
CXCL5	6374	broad.mit.edu	37	4	74863950	74863950	+	Missense_Mutation	SNP	C	C	A	rs199676653		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:74863950C>A	ENST00000296027.4	-	2	412	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	72					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.G72V(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GCACTGTGGGCCTATGGCGAA	0.532																																						uc003hhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)GGC>GTC		chemokine (C-X-C motif) ligand 5 precursor							96.0	99.0	98.0					4																	74863950		2203	4300	6503	SO:0001583	missense	6374				cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr4:74863950C>A	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.215G>T	4.37:g.74863950C>A	ENSP00000296027:p.Gly72Val						p.G72V	NM_002994	NP_002985	P42830	CXCL5_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		2	333	-	Breast(15;0.00136)		72					Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	c.215G>T	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494629	0.26774	.	.	ENSG00000163735	ENST00000296027	T	0.05513	3.43	3.78	3.78	0.43462	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.058047	0.64402	D	0.000002	T	0.32346	0.0826	H	0.95004	3.61	0.30369	N	0.783037	D	0.89917	1.0	D	0.97110	1.0	T	0.46582	-0.9181	10	0.87932	D	0	.	11.0281	0.47757	0.0:1.0:0.0:0.0	.	72	P42830	CXCL5_HUMAN	V	72	ENSP00000296027:G72V	ENSP00000296027:G72V	G	-	2	0	CXCL5	75082814	0.741000	0.28217	0.028000	0.17463	0.034000	0.12701	3.328000	0.52052	1.958000	0.56883	0.306000	0.20318	GGC		PASS	0.532	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		41	69	41	69	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77662653	77662653	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:77662653C>A	ENST00000296043.6	+	5	4280	c.3327C>A	c.(3325-3327)ccC>ccA	p.P1109P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1109					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.P1108P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCAGGAGCCCGGGCCACTGC	0.726																																						uc011cbx.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(3325-3327)CCC>CCA		shroom family member 3 protein							2.0	3.0	3.0					4																	77662653		1728	3526	5254	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662653C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3327C>A	4.37:g.77662653C>A						SHROOM3_uc011cbz.1_Silent_p.P933P|SHROOM3_uc003hkf.1_Silent_p.P984P|SHROOM3_uc003hkg.2_Silent_p.P887P	p.P1109P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	4280	+			1109					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.3327C>A	CCDS3579.2																																																																																				PASS	0.726	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		2	1	2	1	---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96075765	96075765	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:96075765G>A	ENST00000515059.1	+	13	1733	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	BMPR1B_ENST00000264568.4_Missense_Mutation_p.A484T|BMPR1B_ENST00000394931.1_Missense_Mutation_p.A484T|BMPR1B_ENST00000440890.2_Missense_Mutation_p.A514T	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.A484T(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAGGCTGACAGCCCTGCGGGT	0.448																																						uc003htm.3																			2	Substitution - Missense(2)		lung(2)	lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(1450-1452)GCC>ACC		bone morphogenetic protein receptor, type IB							76.0	78.0	77.0					4																	96075765		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96075765G>A	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1450G>A	4.37:g.96075765G>A	ENSP00000426617:p.Ala484Thr					BMPR1B_uc010ilb.2_Missense_Mutation_p.A484T|BMPR1B_uc003htn.3_Missense_Mutation_p.A484T	p.A484T	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	13	1724	+		Hepatocellular(203;0.114)	484			Cytoplasmic (Potential).|Protein kinase.		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.1450G>A	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870737	0.97049	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.84326	2.69	0.80722	D	1	P	0.37423	0.594	B	0.44163	0.443	D	0.95723	0.8768	10	0.66056	D	0.02	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	484	O00238	BMR1B_HUMAN	T	484;484;484;514;484;484	ENSP00000426617:A484T;ENSP00000425444:A484T;ENSP00000421671:A484T;ENSP00000401907:A514T;ENSP00000264568:A484T;ENSP00000378389:A484T	ENSP00000264568:A484T	A	+	1	0	BMPR1B	96294788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.581000	0.82535	2.814000	0.96858	0.591000	0.81541	GCC		PASS	0.448	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		23	89	23	89	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109767295	109767295	+	Splice_Site	SNP	C	C	T	rs371922822		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:109767295C>T	ENST00000399132.1	-	28	2045	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	COL25A1_ENST00000399127.1_Splice_Site_p.P478P|COL25A1_ENST00000399126.1_Splice_Site_p.P505P	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.P505P(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATAAACATACCGGTAATCCAG	0.343																																						uc003hze.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1513-1515)CCG>CCA		collagen, type XXV, alpha 1 isoform 1		C	,	1,3645		0,1,1822	108.0	101.0	103.0		1515,1515	4.4	1.0	4		103	0,8144		0,0,4072	no	coding-synonymous-near-splice,coding-synonymous-near-splice	COL25A1	NM_032518.2,NM_198721.1	,	0,1,5894	TT,TC,CC		0.0,0.0274,0.0085	,	505/643,505/655	109767295	1,11789	1823	4072	5895	SO:0001630	splice_region_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109767295C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1515+1G>A	4.37:g.109767295C>T						COL25A1_uc003hzg.2_Silent_p.P505P|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Silent_p.P263P	p.P505P	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	27	2046	-		Hepatocellular(203;0.217)	505			Extracellular (Potential).|Collagen-like 6.			Silent	SNP	ENST00000399132.1	37	c.1515G>A	CCDS43258.1																																																																																				PASS	0.343	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	Silent	26	96	26	96	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126336607	126336607	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:126336607T>C	ENST00000394329.3	+	5	6502	c.6489T>C	c.(6487-6489)atT>atC	p.I2163I	FAT4_ENST00000335110.5_Silent_p.I461I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2163	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2163I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGTGGAGATTAATGAAAACA	0.393																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6487-6489)ATT>ATC		FAT tumor suppressor homolog 4 precursor							110.0	102.0	105.0					4																	126336607		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336607T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6489T>C	4.37:g.126336607T>C						FAT4_uc011cgp.1_Silent_p.I461I	p.I2163I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6489	+			2163			Cadherin 21.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6489T>C	CCDS3732.3																																																																																				PASS	0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		52	104	52	104	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126370860	126370860	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:126370860A>G	ENST00000394329.3	+	9	8702	c.8689A>G	c.(8689-8691)Aca>Gca	p.T2897A	FAT4_ENST00000335110.5_Missense_Mutation_p.T1195A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2897	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2897A(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTATTTGCAACAGATCCTGA	0.363																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8689-8691)ACA>GCA		FAT tumor suppressor homolog 4 precursor							88.0	91.0	90.0					4																	126370860		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370860A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8689A>G	4.37:g.126370860A>G	ENSP00000377862:p.Thr2897Ala					FAT4_uc011cgp.1_Missense_Mutation_p.T1195A|FAT4_uc003ifi.1_Missense_Mutation_p.T375A	p.T2897A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8689	+			2897			Cadherin 28.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8689A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	9.819	1.185300	0.21870	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02280	4.36;4.36	5.51	1.57	0.23409	Cadherin (4);Cadherin-like (1);	0.219310	0.21631	U	0.071497	T	0.08758	0.0217	M	0.75777	2.31	0.23056	N	0.99836	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.80764	0.987;0.987;0.994	T	0.08973	-1.0696	10	0.51188	T	0.08	.	6.3566	0.21404	0.6866:0.0:0.067:0.2464	.	1195;2897;2897	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	2897;1195	ENSP00000377862:T2897A;ENSP00000335169:T1195A	ENSP00000335169:T1195A	T	+	1	0	FAT4	126590310	0.702000	0.27816	0.001000	0.08648	0.373000	0.29922	2.811000	0.47986	0.098000	0.17522	0.533000	0.62120	ACA		PASS	0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		68	130	68	130	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151765280	151765280	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:151765280C>T	ENST00000357115.3	-	28	4784	c.4541G>A	c.(4540-4542)cGg>cAg	p.R1514Q	LRBA_ENST00000510413.1_Missense_Mutation_p.R1514Q|LRBA_ENST00000535741.1_Missense_Mutation_p.R1514Q|LRBA_ENST00000507224.1_Missense_Mutation_p.R1514Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1514						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1514Q(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCCCTAAGCCGATTAATATC	0.373																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(4540-4542)CGG>CAG		LPS-responsive vesicle trafficking, beach and							125.0	122.0	123.0					4																	151765280		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151765280C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4541G>A	4.37:g.151765280C>T	ENSP00000349629:p.Arg1514Gln					LRBA_uc003ilt.3_Missense_Mutation_p.R173Q|LRBA_uc003ilu.3_Missense_Mutation_p.R1514Q	p.R1514Q	NM_006726	NP_006717	P50851	LRBA_HUMAN			28	5015	-	all_hematologic(180;0.151)		1514					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4541G>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.859569|5.859569	0.97036|0.97036	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839	.|T;T;T;T	.|0.71934	.|-0.17;-0.02;-0.17;-0.61	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86053|0.86053	0.5841|0.5841	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.939	.|D;P	.|0.79108	.|0.992;0.463	D|D	0.87393|0.87393	0.2364|0.2364	5|10	.|0.87932	.|D	.|0	.|.	19.7203|19.7203	0.96139|0.96139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1514;1514	.|P50851;P50851-2	.|LRBA_HUMAN;.	S|Q	167|1514;1514;1514;1514;91	.|ENSP00000446299:R1514Q;ENSP00000421552:R1514Q;ENSP00000349629:R1514Q;ENSP00000422180:R1514Q	.|ENSP00000349629:R1514Q	G|R	-|-	1|2	0|0	LRBA|LRBA	151984730|151984730	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.945000|0.945000	0.59286|0.59286	7.750000|7.750000	0.85110|0.85110	2.732000|2.732000	0.93576|0.93576	0.555000|0.555000	0.69702|0.69702	GGC|CGG		PASS	0.373	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	218	8	218	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177136798	177136798	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr4:177136798G>C	ENST00000296525.3	-	7	1056	c.943C>G	c.(943-945)Caa>Gaa	p.Q315E	ASB5_ENST00000512254.1_Missense_Mutation_p.Q262E	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	315	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.Q315E(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCTGGAGTTGTGGGATAAGG	0.373																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(943-945)CAA>GAA		ankyrin repeat and SOCS box-containing protein							119.0	110.0	113.0					4																	177136798		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177136798G>C	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.943C>G	4.37:g.177136798G>C	ENSP00000296525:p.Gln315Glu					ASB5_uc003iup.1_Missense_Mutation_p.Q262E	p.Q315E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	959	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	315			SOCS box.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.943C>G	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961777	0.53400	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.46819	0.86;0.86	5.26	5.26	0.73747	SOCS protein, C-terminal (3);	0.050198	0.85682	D	0.000000	T	0.44912	0.1316	L	0.37850	1.14	0.47949	D	0.999559	P;P	0.38280	0.625;0.625	B;B	0.40741	0.339;0.339	T	0.29941	-0.9995	10	0.31617	T	0.26	-19.151	18.8702	0.92309	0.0:0.0:1.0:0.0	.	315;262	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	E	315;262	ENSP00000296525:Q315E;ENSP00000422877:Q262E	ENSP00000296525:Q315E	Q	-	1	0	ASB5	177373792	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	8.403000	0.90208	2.449000	0.82847	0.591000	0.81541	CAA		PASS	0.373	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			19	82	19	82	---	---	---	---
SLC6A18	348932	broad.mit.edu	37	5	1244359	1244359	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:1244359C>G	ENST00000324642.3	+	10	1490	c.1367C>G	c.(1366-1368)gCc>gGc	p.A456G	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	456					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.A456G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCTCTCCGCCACCTGCTTC	0.607																																						uc003jby.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1366-1368)GCC>GGC		solute carrier family 6, member 18							114.0	111.0	112.0					5																	1244359		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244359C>G	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1367C>G	5.37:g.1244359C>G	ENSP00000323549:p.Ala456Gly						p.A456G	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1490	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		456			Helical; Name=9; (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1367C>G	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534522	0.04082	.	.	ENSG00000164363	ENST00000324642	T	0.69306	-0.39	4.87	4.87	0.63330	.	0.200407	0.41938	D	0.000786	T	0.43875	0.1267	N	0.04203	-0.255	0.80722	D	1	B	0.28258	0.205	B	0.37650	0.255	T	0.44221	-0.9342	10	0.02654	T	1	.	11.4417	0.50100	0.0:0.8174:0.1826:0.0	.	456	Q96N87	S6A18_HUMAN	G	456	ENSP00000323549:A456G	ENSP00000323549:A456G	A	+	2	0	SLC6A18	1297359	0.969000	0.33509	0.022000	0.16811	0.257000	0.26127	2.331000	0.43894	2.264000	0.75181	0.561000	0.74099	GCC		PASS	0.607	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		82	97	82	97	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15936904	15936904	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:15936904G>T	ENST00000504595.1	+	4	1566	c.1085G>T	c.(1084-1086)cGg>cTg	p.R362L	FBXL7_ENST00000510662.1_Missense_Mutation_p.R315L|FBXL7_ENST00000329673.7_Missense_Mutation_p.R350L|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	362					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R362L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACTGCGGCCGGGTCACCGAC	0.677																																						uc003jfn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1084-1086)CGG>CTG		F-box and leucine-rich repeat protein 7							37.0	41.0	40.0					5																	15936904		2185	4272	6457	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936904G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1085G>T	5.37:g.15936904G>T	ENSP00000423630:p.Arg362Leu						p.R362L	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1566	+			362			LRR 8.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1085G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742545	0.49151	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.28666	1.6;1.6;1.6	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	L	0.48642	1.525	0.80722	D	1	B	0.27229	0.172	B	0.26864	0.074	T	0.08743	-1.0707	10	0.11485	T	0.65	.	19.109	0.93309	0.0:0.0:1.0:0.0	.	362	Q9UJT9	FBXL7_HUMAN	L	362;315;350	ENSP00000423630:R362L;ENSP00000425184:R315L;ENSP00000329632:R350L	ENSP00000329632:R350L	R	+	2	0	FBXL7	15989904	1.000000	0.71417	0.989000	0.46669	0.190000	0.23558	9.624000	0.98398	2.525000	0.85131	0.655000	0.94253	CGG		PASS	0.677	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		9	11	9	11	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19571730	19571730	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:19571730G>C	ENST00000507958.1	-	10	2201	c.1211C>G	c.(1210-1212)aCa>aGa	p.T404R	CDH18_ENST00000274170.4_Missense_Mutation_p.T404R|CDH18_ENST00000511273.1_Missense_Mutation_p.T404R|CDH18_ENST00000382275.1_Missense_Mutation_p.T404R|CDH18_ENST00000506372.1_Missense_Mutation_p.T404R|CDH18_ENST00000502796.1_Missense_Mutation_p.T404R			Q13634	CAD18_HUMAN	cadherin 18, type 2	404	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T404R(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCCAAAACTGTACCAACGAC	0.408																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1210-1212)ACA>AGA		cadherin 18, type 2 preproprotein							154.0	129.0	137.0					5																	19571730		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571730G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1211C>G	5.37:g.19571730G>C	ENSP00000425093:p.Thr404Arg					CDH18_uc003jgd.2_Missense_Mutation_p.T404R|CDH18_uc011cnm.1_Missense_Mutation_p.T404R	p.T404R	NM_004934	NP_004925	Q13634	CAD18_HUMAN			7	1588	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		404			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1211C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763463	0.31228	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	0.174561	0.50627	D	0.000105	T	0.45357	0.1338	N	0.12611	0.24	0.44660	D	0.997648	P;B	0.41624	0.757;0.314	P;B	0.53102	0.718;0.178	T	0.35201	-0.9798	9	.	.	.	.	17.5963	0.88013	0.0:0.0:1.0:0.0	.	404;404	B4DHG6;Q13634	.;CAD18_HUMAN	R	404;404;404;404;404;404;350;404	ENSP00000371710:T404R;ENSP00000425093:T404R;ENSP00000274170:T404R;ENSP00000424931:T404R;ENSP00000422138:T404R;ENSP00000427383:T350R;ENSP00000425854:T404R	.	T	-	2	0	CDH18	19607487	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	4.887000	0.63156	2.591000	0.87537	0.655000	0.94253	ACA		PASS	0.408	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		64	119	64	119	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535933	24535933	+	Splice_Site	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:24535933T>C	ENST00000264463.4	-	4	1034		c.e4-2			NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						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.?(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)		CAGAAGTACCTGAAGTATCCA	0.443										HNSCC(23;0.051)																												uc003jgr.1																			1	Unknown(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.e4-1		cadherin 10, type 2 preproprotein							89.0	82.0	84.0					5																	24535933		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535933T>C	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.527-2A>G	5.37:g.24535933T>C		HNSCC(23;0.051)				CDH10_uc011cnu.1_Splice_Site	p.G176_splice	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	859	-								Q9ULB3	Splice_Site	SNP	ENST00000264463.4	37	c.527_splice	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.837431	0.91117	.	.	ENSG00000040731	ENST00000264463	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH10	24571690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	.		PASS	0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Intron	30	63	30	63	---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31538493	31538493	+	Silent	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:31538493A>G	ENST00000325366.9	+	4	631	c.504A>G	c.(502-504)caA>caG	p.Q168Q	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	168								p.Q168Q(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GTAACAATCAAGAAGAAAACG	0.393																																						uc003jhj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(502-504)CAA>CAG		hypothetical protein LOC55322							82.0	83.0	83.0					5																	31538493		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31538493A>G	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.504A>G	5.37:g.31538493A>G						C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.3_Intron	p.Q168Q	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			4	631	+			168					Q8ND28|Q8WU61|Q9NUR1	Silent	SNP	ENST00000325366.9	37	c.504A>G	CCDS3895.1																																																																																				PASS	0.393	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		49	111	49	111	---	---	---	---
POLK	51426	broad.mit.edu	37	5	74892912	74892912	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:74892912G>T	ENST00000241436.4	+	13	2566	c.2394G>T	c.(2392-2394)gtG>gtT	p.V798V	POLK_ENST00000508526.1_Silent_p.V600V|POLK_ENST00000352007.5_Silent_p.V600V|POLK_ENST00000380481.3_Silent_p.V708V|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	798					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.V798V(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)		ATGTGCATGTGGATGTTTGCT	0.363								DNA polymerases (catalytic subunits)																														uc003kdw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(2)	4						c.(2392-2394)GTG>GTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							85.0	93.0	91.0					5																	74892912		2202	4298	6500	SO:0001819	synonymous_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892912G>T	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.2394G>T	5.37:g.74892912G>T						POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.V600V|POLK_uc003kec.2_Silent_p.V708V|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.V708V	p.V798V	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2490	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	798			UBZ-type 2.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	c.2394G>T	CCDS4030.1																																																																																				PASS	0.363	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		67	68	67	68	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109181686	109181686	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:109181686G>T	ENST00000261483.4	+	18	3873	c.2821G>T	c.(2821-2823)Ggg>Tgg	p.G941W		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	941					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.G941W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCAGTCATTAGGGGTTTCGAG	0.418																																						uc003kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2821-2823)GGG>TGG		mannosidase, alpha, class 2A, member 1							245.0	229.0	234.0					5																	109181686		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109181686G>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2821G>T	5.37:g.109181686G>T	ENSP00000261483:p.Gly941Trp						p.G941W	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	18	3784	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	941			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2821G>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187612	0.57909	.	.	ENSG00000112893	ENST00000261483	D	0.98512	-4.97	5.51	5.51	0.81932	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.053911	0.85682	D	0.000000	D	0.99281	0.9749	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99044	1.0825	10	0.87932	D	0	-20.8779	19.7796	0.96412	0.0:0.0:1.0:0.0	.	941	Q16706	MA2A1_HUMAN	W	941	ENSP00000261483:G941W	ENSP00000261483:G941W	G	+	1	0	MAN2A1	109209585	1.000000	0.71417	0.476000	0.27291	0.015000	0.08874	8.972000	0.93424	2.756000	0.94617	0.655000	0.94253	GGG		PASS	0.418	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			96	110	96	110	---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131953808	131953808	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:131953808C>T	ENST00000265335.6	+	21	3598	c.3211C>T	c.(3211-3213)Cat>Tat	p.H1071Y	RAD50_ENST00000378823.3_Missense_Mutation_p.H932Y			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1071					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.H1071Y(1)|p.H932Y(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAAGAAATCATAATTTGGC	0.323								Homologous recombination																														uc003kxi.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(3211-3213)CAT>TAT	Homologous_recombination	RAD50 homolog isoform 1							133.0	155.0	148.0					5																	131953808		2203	4299	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953808C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3211C>T	5.37:g.131953808C>T	ENSP00000265335:p.His1071Tyr					RAD50_uc003kxh.2_Missense_Mutation_p.H932Y	p.H1071Y	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3598	+		all_cancers(142;0.0368)|Breast(839;0.198)	1071			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3211C>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122563	0.56613	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.04862	3.54;3.77	5.4	5.4	0.78164	.	0.205898	0.52532	D	0.000067	T	0.07007	0.0178	N	0.24115	0.695	0.46981	D	0.99927	B	0.02656	0.0	B	0.04013	0.001	T	0.35051	-0.9804	10	0.49607	T	0.09	-2.0017	19.5418	0.95277	0.0:1.0:0.0:0.0	.	1071	Q92878	RAD50_HUMAN	Y	932;1071	ENSP00000368100:H932Y;ENSP00000265335:H1071Y	ENSP00000265335:H1071Y	H	+	1	0	RAD50	131981707	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	6.838000	0.75359	2.684000	0.91462	0.655000	0.94253	CAT		PASS	0.323	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		121	93	121	93	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167658	140167658	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:140167658C>T	ENST00000504120.2	+	1	1783	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R595C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	595	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R595C(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAAGGTGCGCGCAGTGGA	0.692																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1783-1785)CGC>TGC		protocadherin alpha 1 isoform 1 precursor							104.0	98.0	100.0					5																	140167658		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167658C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1783C>T	5.37:g.140167658C>T	ENSP00000420840:p.Arg595Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R595C	p.R595C	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1783	+			595			Cadherin 6.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1783C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	11.69	1.712465	0.30322	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53423	0.62;0.62	3.36	2.38	0.29361	Cadherin (4);Cadherin-like (1);	0.000000	0.35525	U	0.003144	T	0.69540	0.3122	H	0.94582	3.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.66847	0.932;0.947	T	0.59478	-0.7447	10	0.56958	D	0.05	.	5.4198	0.16394	0.3284:0.5568:0.0:0.1148	.	595;595	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	C	595	ENSP00000420840:R595C;ENSP00000367373:R595C	ENSP00000367373:R595C	R	+	1	0	PCDHA1	140147842	0.000000	0.05858	1.000000	0.80357	0.373000	0.29922	-0.227000	0.09126	1.572000	0.49736	0.484000	0.47621	CGC		PASS	0.692	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		37	41	37	41	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516576	140516576	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:140516576C>T	ENST00000231134.5	+	1	1777	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	520	Cadherin 5. {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.Y520Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.701																																						uc003liq.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1558-1560)TAC>TAT		protocadherin beta 5 precursor							63.0	66.0	65.0					5																	140516576		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516576C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1560C>T	5.37:g.140516576C>T							p.Y520Y	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			520			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1560C>T	CCDS4247.1																																																																																				PASS	0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		24	64	24	64	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745458	140745458	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:140745458G>T	ENST00000518069.1	+	1	1561	c.1561G>T	c.(1561-1563)Gac>Tac	p.D521Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D521Y(1)|p.D521N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCCTTCGACTATGAGCA	0.542																																						uc003lju.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)	4						c.(1561-1563)GAC>TAC		protocadherin gamma subfamily A, 5 isoform 1							181.0	199.0	193.0					5																	140745458		2190	4298	6488	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745458G>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1561G>T	5.37:g.140745458G>T	ENSP00000429834:p.Asp521Tyr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D521Y	p.D521Y	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1561	+			521			Extracellular (Potential).|Cadherin 5.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1561G>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.611957	0.46631	.	.	ENSG00000253485	ENST00000518069	T	0.65549	-0.16	4.84	4.84	0.62591	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.89427	0.6712	H	0.99863	4.86	0.46061	D	0.998848	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94627	0.7818	9	0.87932	D	0	.	17.9134	0.88942	0.0:0.0:1.0:0.0	.	521;521	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Y	521	ENSP00000429834:D521Y	ENSP00000429834:D521Y	D	+	1	0	PCDHGA5	140725642	1.000000	0.71417	0.972000	0.41901	0.268000	0.26511	6.735000	0.74806	2.397000	0.81536	0.563000	0.77884	GAC		PASS	0.542	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		146	130	146	130	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140811929	140811929	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:140811929C>T	ENST00000252085.3	+	1	1745	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R535W(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGATGGCGCGGGACAACGG	0.602																																						uc003lkt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1603-1605)CGG>TGG		protocadherin gamma subfamily A, 12 isoform 1							122.0	136.0	131.0					5																	140811929		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811929C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1603C>T	5.37:g.140811929C>T	ENSP00000252085:p.Arg535Trp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R535W	p.R535W	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1772	+			535			Extracellular (Potential).|Cadherin 5.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1603C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	3.972	-0.008239	0.07727	.	.	ENSG00000253159	ENST00000252085	T	0.54866	0.55	5.23	-1.52	0.08637	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.56543	0.1992	M	0.94101	3.495	0.09310	N	1	B;B	0.28350	0.06;0.208	B;B	0.27608	0.013;0.081	T	0.58405	-0.7642	9	0.72032	D	0.01	.	4.1844	0.10392	0.4489:0.336:0.09:0.1251	.	535;535	O60330-2;O60330	.;PCDGC_HUMAN	W	535	ENSP00000252085:R535W	ENSP00000252085:R535W	R	+	1	2	PCDHGA12	140792113	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.316000	0.01123	-0.040000	0.13580	0.561000	0.74099	CGG		PASS	0.602	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		80	72	80	72	---	---	---	---
KCNIP1	30820	broad.mit.edu	37	5	170139878	170139878	+	Missense_Mutation	SNP	C	C	A	rs547044171	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:170139878C>A	ENST00000411494.1	+	2	82	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000434108.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000377360.4_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	28					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.Q28K(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGTATTACCAGTATCAGAG	0.378																																						uc003mas.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(82-84)CAG>AAG		Kv channel interacting protein 1 isoform 1							167.0	158.0	161.0					5																	170139878		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170139878C>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.82C>A	5.37:g.170139878C>A	ENSP00000395323:p.Gln28Lys					KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Intron|KCNIP1_uc010jjp.2_Intron|KCNIP1_uc010jjq.2_Intron	p.Q28K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	611	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	28					B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.82C>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548445	0.27652	.	.	ENSG00000182132	ENST00000411494	T	0.68181	-0.31	5.9	5.9	0.94986	.	2.288610	0.03311	N	0.190549	T	0.62950	0.2470	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04930	-1.0917	9	.	.	.	.	15.779	0.78246	0.0:1.0:0.0:0.0	.	28	Q9NZI2	KCIP1_HUMAN	K	28	ENSP00000395323:Q28K	.	Q	+	1	0	KCNIP1	170072456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.756000	0.47549	2.788000	0.95919	0.650000	0.86243	CAG		PASS	0.378	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			64	55	64	55	---	---	---	---
STC2	8614	broad.mit.edu	37	5	172752872	172752872	+	Splice_Site	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr5:172752872T>C	ENST00000265087.4	-	2	1602	c.293A>G	c.(292-294)cAg>cGg	p.Q98R	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	98					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.Q98R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATTTTTACCTGGGCATCAAA	0.428																																						uc003mco.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(292-294)CAG>CGG		stanniocalcin 2 precursor							302.0	334.0	323.0					5																	172752872		2203	4300	6503	SO:0001630	splice_region_variant	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172752872T>C	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.294+1A>G	5.37:g.172752872T>C						STC2_uc003mcn.1_Missense_Mutation_p.Q13R	p.Q98R	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1603	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	98						Missense_Mutation	SNP	ENST00000265087.4	37	c.293A>G	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	T	34	5.310789	0.95629	.	.	ENSG00000113739	ENST00000265087;ENST00000518455	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83369	0.0006	9	0.87932	D	0	-28.408	15.7961	0.78412	0.0:0.0:0.0:1.0	.	98	O76061	STC2_HUMAN	R	98;13	.	ENSP00000265087:Q98R	Q	-	2	0	STC2	172685478	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.131000	0.65755	0.533000	0.62120	CAG		PASS	0.428	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	Missense_Mutation	257	234	257	234	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12123174	12123174	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:12123174G>T	ENST00000379388.2	+	4	3478	c.3146G>T	c.(3145-3147)gGa>gTa	p.G1049V	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1049					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.G1049V(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)				AATGAAAGTGGAACATCTCCA	0.448																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3145-3147)GGA>GTA		human immunodeficiency virus type I enhancer							105.0	106.0	106.0					6																	12123174		1865	4107	5972	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123174G>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.3146G>T	6.37:g.12123174G>T	ENSP00000368698:p.Gly1049Val					HIVEP1_uc011diq.1_RNA	p.G1049V	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3325	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1049					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3146G>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563869	0.27915	.	.	ENSG00000095951	ENST00000379388	T	0.32515	1.45	5.87	5.0	0.66597	.	0.000000	0.35805	N	0.002973	T	0.18676	0.0448	M	0.77616	2.38	0.21604	N	0.999625	P	0.47302	0.893	B	0.39738	0.308	T	0.11991	-1.0565	9	.	.	.	-24.486	9.7167	0.40278	0.0695:0.2691:0.6614:0.0	.	1049	P15822	ZEP1_HUMAN	V	1049	ENSP00000368698:G1049V	.	G	+	2	0	HIVEP1	12231160	0.937000	0.31787	0.089000	0.20774	0.675000	0.39556	2.067000	0.41461	1.472000	0.48140	0.655000	0.94253	GGA		PASS	0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		35	109	35	109	---	---	---	---
RNF182	221687	broad.mit.edu	37	6	13977368	13977368	+	Silent	SNP	T	T	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:13977368T>G	ENST00000488300.1	+	3	541	c.18T>G	c.(16-18)ccT>ccG	p.P6P	RNF182_ENST00000537388.1_Silent_p.P6P|RNF182_ENST00000544682.1_Silent_p.P6P|RNF182_ENST00000537663.1_Silent_p.P6P	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	6					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P6P(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTCAACCTCCTGAAGACACTG	0.453																																						uc003nbe.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(16-18)CCT>CCG		ring finger protein 182							106.0	111.0	109.0					6																	13977368		2203	4300	6503	SO:0001819	synonymous_variant	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977368T>G	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.18T>G	6.37:g.13977368T>G						RNF182_uc003nbf.2_Silent_p.P6P|RNF182_uc003nbg.2_Silent_p.P6P	p.P6P	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	436	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	6					B2RDG2|Q8NBG3	Silent	SNP	ENST00000488300.1	37	c.18T>G	CCDS4531.1																																																																																				PASS	0.453	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		36	121	36	121	---	---	---	---
HLA-G	3135	broad.mit.edu	37	6	29797253	29797253	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:29797253G>T	ENST00000360323.6	+	4	702	c.678G>T	c.(676-678)agG>agT	p.R226S	HLA-G_ENST00000376828.2_Missense_Mutation_p.R231S|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Missense_Mutation_p.R226S|HLA-G_ENST00000376818.3_Missense_Mutation_p.R134S			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	226	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R226S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCACCCTGAGGTGCTGGGCCC	0.592																																						uc003nnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(676-678)AGG>AGT		major histocompatibility complex, class I, G							92.0	96.0	94.0					6																	29797253		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797253G>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.678G>T	6.37:g.29797253G>T	ENSP00000353472:p.Arg226Ser					HLA-G_uc011dmb.1_Missense_Mutation_p.R198S|HLA-G_uc003raj.3_Missense_Mutation_p.R231S|HLA-G_uc003nnz.3_Missense_Mutation_p.R134S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	p.R226S	NM_002127	NP_002118	P17693	HLAG_HUMAN			5	856	+			226			Extracellular (Potential).|Ig-like C1-type.|Alpha-3.			Missense_Mutation	SNP	ENST00000360323.6	37	c.678G>T	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259448	0.39995	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.02737	4.18;4.18;4.18;4.18	1.72	1.72	0.24424	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.456569	0.15332	U	0.267923	T	0.05273	0.0140	M	0.75150	2.29	0.24554	N	0.994005	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.992;0.989;1.0	T	0.21211	-1.0252	10	0.87932	D	0	.	6.0559	0.19811	0.0:0.3279:0.6721:0.0	.	231;134;226	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	S	231;226;226;134	ENSP00000366024:R231S;ENSP00000412927:R226S;ENSP00000353472:R226S;ENSP00000366014:R134S	ENSP00000353472:R226S	R	+	3	2	HLA-G	29905232	0.987000	0.35691	0.980000	0.43619	0.655000	0.38815	1.479000	0.35453	0.952000	0.37798	0.298000	0.19748	AGG		PASS	0.592	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		46	116	46	116	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31110877	31110877	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:31110877T>C	ENST00000376266.5	-	17	2209	c.2087A>G	c.(2086-2088)tAc>tGc	p.Y696C	CCHCR1_ENST00000451521.2_Missense_Mutation_p.Y749C|CCHCR1_ENST00000396263.2_Missense_Mutation_p.Y643C|CCHCR1_ENST00000396268.3_Missense_Mutation_p.Y785C	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	696					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y696C(1)|p.Y785C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGCTGCTTGTAACGGGAGAG	0.552																																						uc003nsr.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2086-2088)TAC>TGC		coiled-coil alpha-helical rod protein 1 isoform							181.0	204.0	196.0					6																	31110877		1510	2709	4219	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110877T>C	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2087A>G	6.37:g.31110877T>C	ENSP00000365442:p.Tyr696Cys					CCHCR1_uc011dne.1_Intron|CCHCR1_uc003nsq.3_Missense_Mutation_p.Y749C|CCHCR1_uc003nsp.3_Missense_Mutation_p.Y785C	p.Y696C	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			17	2210	-			696					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2087A>G	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930936	0.73327	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000451521	T;T;T;T	0.04119	3.7;3.72;3.72;3.72	5.18	5.18	0.71444	.	0.095032	0.43110	D	0.000609	T	0.11452	0.0279	M	0.69823	2.125	0.44890	D	0.997904	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;1.0;0.998	T	0.00918	-1.1515	10	0.48119	T	0.1	-12.0917	11.315	0.49386	0.0:0.0:0.0:1.0	.	696;749;785	Q8TD31;E9PE84;Q8TD31-2	CCHCR_HUMAN;.;.	C	785;696;643;749	ENSP00000379566:Y785C;ENSP00000365442:Y696C;ENSP00000379561:Y643C;ENSP00000401039:Y749C	ENSP00000365442:Y696C	Y	-	2	0	CCHCR1	31218856	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.436000	0.44819	2.171000	0.68590	0.448000	0.29417	TAC		PASS	0.552	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		52	207	52	207	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608925	31608925	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:31608925C>A	ENST00000375964.6	-	19	2966	c.2653G>T	c.(2653-2655)Ggg>Tgg	p.G885W	BAG6_ENST00000362049.6_Missense_Mutation_p.G879W|BAG6_ENST00000404765.2_Missense_Mutation_p.G915W|BAG6_ENST00000439687.2_Missense_Mutation_p.G753W|BAG6_ENST00000211379.5_Missense_Mutation_p.G879W|BAG6_ENST00000375976.4_Missense_Mutation_p.G879W|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	885					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.G879W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGCTGTCCCCCCAAGCAGTGC	0.512																																						uc003nvg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2653-2655)GGG>TGG		HLA-B associated transcript-3 isoform a							130.0	143.0	138.0					6																	31608925		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608925C>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2653G>T	6.37:g.31608925C>A	ENSP00000365131:p.Gly885Trp					BAT3_uc003nvf.3_Missense_Mutation_p.G879W|BAT3_uc003nvh.3_Missense_Mutation_p.G879W|BAT3_uc003nvi.3_Missense_Mutation_p.G879W|BAT3_uc011dnw.1_Missense_Mutation_p.G879W|BAT3_uc011dnx.1_Missense_Mutation_p.G753W	p.G885W	NM_004639	NP_004630	P46379	BAG6_HUMAN			19	2967	-			885					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.2653G>T	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.66|15.66	2.900688|2.900688	0.52227|0.52227	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049|ENST00000441793	T;T;T;T;T;T|.	0.49432|.	1.41;1.4;1.41;1.41;0.78;1.41|.	5.51|5.51	4.64|4.64	0.57946|0.57946	.|.	0.050237|.	0.85682|.	D|.	0.000000|.	T|T	0.27489|0.27489	0.0675|0.0675	N|N	0.22421|0.22421	0.69|0.69	0.34837|0.34837	D|D	0.740259|0.740259	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.965;0.984;0.991;0.996|.	T|T	0.08534|0.08534	-1.0717|-1.0717	10|5	0.66056|.	D|.	0.02|.	.|.	8.7397|8.7397	0.34550|0.34550	0.0:0.6696:0.2489:0.0815|0.0:0.6696:0.2489:0.0815	.|.	753;879;885;879|.	E7EMZ4;F8VXY4;P46379;P46379-2|.	.;.;BAG6_HUMAN;.|.	W|C	879;885;879;915;753;879|27	ENSP00000365143:G879W;ENSP00000365131:G885W;ENSP00000211379:G879W;ENSP00000384494:G915W;ENSP00000402856:G753W;ENSP00000354875:G879W|.	ENSP00000211379:G879W|.	G|W	-|-	1|3	0|0	BAG6|BAG6	31716904|31716904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	1.270000|1.270000	0.33086|0.33086	2.611000|2.611000	0.88343|0.88343	0.449000|0.449000	0.29647|0.29647	GGG|TGG		PASS	0.512	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		34	107	34	107	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36929663	36929663	+	Splice_Site	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:36929663G>A	ENST00000373674.3	+	4	833	c.505G>A	c.(505-507)Ggg>Agg	p.G169R		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	169					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.G169R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGTAGGGGGAACGTGAA	0.617																																						uc003ona.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GGG>AGG		protease inhibitor 16 precursor							80.0	69.0	73.0					6																	36929663		2203	4299	6502	SO:0001630	splice_region_variant	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36929663G>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.504-1G>A	6.37:g.36929663G>A						PI16_uc003omz.1_Missense_Mutation_p.G169R|PI16_uc003onb.2_Missense_Mutation_p.G169R|PI16_uc011dts.1_5'UTR	p.G169R	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			4	833	+			169			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.505G>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580268	0.86645	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.16457	2.34	5.06	5.06	0.68205	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.90977	3.165	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55829	-0.8079	10	0.87932	D	0	.	16.3856	0.83503	0.0:0.0:1.0:0.0	.	169;169	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	R	169;169;21	ENSP00000362778:G169R	ENSP00000362778:G169R	G	+	1	0	PI16	37037641	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.851000	0.69481	2.642000	0.89623	0.561000	0.74099	GGG		PASS	0.617	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370	Missense_Mutation	18	93	18	93	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42227438	42227438	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:42227438C>A	ENST00000372922.4	-	9	2470	c.1908G>T	c.(1906-1908)ccG>ccT	p.P636P	TRERF1_ENST00000372917.4_Silent_p.P553P|TRERF1_ENST00000541110.1_Silent_p.P656P|TRERF1_ENST00000340840.2_Silent_p.P553P|TRERF1_ENST00000354325.2_Silent_p.P553P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	636	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P636P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGCACACTCGGCTGATGCT	0.587																																						uc003osd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1906-1908)CCG>CCT		transcriptional regulating factor 1							62.0	71.0	68.0					6																	42227438		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42227438C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1908G>T	6.37:g.42227438C>A						TRERF1_uc011duq.1_Silent_p.P553P|TRERF1_uc003osb.2_Silent_p.P392P|TRERF1_uc003osc.2_Silent_p.P392P|TRERF1_uc003ose.2_Silent_p.P656P	p.P636P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		9	2471	-	Colorectal(47;0.196)		636			Pro-rich.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.1908G>T	CCDS4867.1																																																																																				PASS	0.587	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		35	117	35	117	---	---	---	---
LRRC73	221424	broad.mit.edu	37	6	43475243	43475243	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:43475243C>T	ENST00000372441.1	-	5	1731	c.831G>A	c.(829-831)cgG>cgA	p.R277R		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	277								p.R277R(1)									CAGCAGGCTCCCGCCCTCTCT	0.632																																						uc003ovk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)CGG>CGA		hypothetical protein LOC221424							31.0	36.0	35.0					6																	43475243		2202	4300	6502	SO:0001819	synonymous_variant	221424							g.chr6:43475243C>T		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.831G>A	6.37:g.43475243C>T						C6orf154_uc003ovj.1_Silent_p.R86R	p.R277R	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		5	1732	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		277						Silent	SNP	ENST00000372441.1	37	c.831G>A	CCDS34456.1																																																																																				PASS	0.632	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		14	41	14	41	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658129	46658129	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:46658129G>T	ENST00000316081.6	+	1	2264	c.2264G>T	c.(2263-2265)tGc>tTc	p.C755F	TDRD6_ENST00000544460.1_Missense_Mutation_p.C755F|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	755					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.C755F(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATGCAGAATTGCTTGGAAATT	0.403																																						uc003oyj.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2263-2265)TGC>TTC		tudor domain containing 6							36.0	37.0	36.0					6																	46658129		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658129G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2264G>T	6.37:g.46658129G>T	ENSP00000346065:p.Cys755Phe					TDRD6_uc010jze.2_Missense_Mutation_p.C749F	p.C755F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2264	+			755					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2264G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	2.030	-0.422576	0.04734	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12879	2.64;2.64	5.71	0.353	0.16058	.	1.583980	0.02936	N	0.139811	T	0.00845	0.0028	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	10	0.09843	T	0.71	-15.4255	0.6081	0.00756	0.3413:0.1827:0.1096:0.3663	.	755;755	F5H5M3;O60522	.;TDRD6_HUMAN	F	755	ENSP00000443299:C755F;ENSP00000346065:C755F	ENSP00000346065:C755F	C	+	2	0	TDRD6	46766088	0.000000	0.05858	0.001000	0.08648	0.615000	0.37417	0.543000	0.23237	0.125000	0.18397	-0.264000	0.10439	TGC		PASS	0.403	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		15	53	15	53	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46828476	46828476	+	Silent	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:46828476G>C	ENST00000283296.7	-	16	2643	c.2355C>G	c.(2353-2355)acC>acG	p.T785T	GPR116_ENST00000456426.2_Silent_p.T643T|GPR116_ENST00000362015.4_Silent_p.T785T|GPR116_ENST00000265417.7_Silent_p.T785T|GPR116_ENST00000545669.1_Silent_p.T214T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	785					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T785T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AATTTACTTGGGTTGGAACTG	0.408																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2353-2355)ACC>ACG		G-protein coupled receptor 116 precursor							140.0	136.0	137.0					6																	46828476		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46828476G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2355C>G	6.37:g.46828476G>C						GPR116_uc011dwj.1_Silent_p.T340T|GPR116_uc011dwk.1_Silent_p.T214T|GPR116_uc003oyp.3_Silent_p.T643T|GPR116_uc003oyq.3_Silent_p.T785T|GPR116_uc010jzi.1_Silent_p.T457T	p.T785T	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		16	2644	-			785			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2355C>G	CCDS4919.1																																																																																				PASS	0.408	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		22	87	22	87	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46991822	46991822	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:46991822G>C	ENST00000371253.2	-	5	624	c.409C>G	c.(409-411)Ctc>Gtc	p.L137V	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.L137V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	137					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L137V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGTTGTTGAGATGACATTCA	0.512																																						uc003oyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(409-411)CTC>GTC		G-protein coupled receptor 110 isoform 1							122.0	103.0	109.0					6																	46991822		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46991822G>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.409C>G	6.37:g.46991822G>C	ENSP00000360299:p.Leu137Val					GPR110_uc011dwl.1_Translation_Start_Site|GPR110_uc003oyu.1_Missense_Mutation_p.L137V	p.L137V	NM_153840	NP_722582	Q5T601	GP110_HUMAN			5	608	-			137			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.409C>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169807	0.21621	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.36340	1.26	5.51	-2.36	0.06663	.	1.526360	0.03859	N	0.273689	T	0.09555	0.0235	L	0.31926	0.97	0.09310	N	1	B;B	0.20671	0.047;0.001	B;B	0.24541	0.054;0.001	T	0.29792	-1.0000	10	0.44086	T	0.13	-0.1253	2.4589	0.04536	0.2212:0.3422:0.3201:0.1164	.	137;137	Q5T601-2;Q5T601	.;GP110_HUMAN	V	137	ENSP00000360299:L137V	ENSP00000360289:L137V	L	-	1	0	GPR110	47099781	0.000000	0.05858	0.237000	0.24090	0.912000	0.54170	-0.498000	0.06420	-0.187000	0.10516	0.655000	0.94253	CTC		PASS	0.512	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		11	51	11	51	---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49665584	49665584	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:49665584T>A	ENST00000339139.4	-	8	740	c.504A>T	c.(502-504)caA>caT	p.Q168H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	168	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.Q168H(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAGGACAATATTGGCAAACAT	0.333																																						uc003ozq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(502-504)CAA>CAT		cysteine-rich secretory protein 2 precursor							109.0	110.0	110.0					6																	49665584		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49665584T>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.504A>T	6.37:g.49665584T>A	ENSP00000339155:p.Gln168His					CRISP2_uc003ozl.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozn.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozr.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozo.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozm.2_Missense_Mutation_p.Q168H|CRISP2_uc003ozp.2_Missense_Mutation_p.Q168H	p.Q168H	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	760	-	Lung NSC(77;0.0161)		168					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.504A>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315060	0.23908	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.09445	2.98	4.77	-9.54	0.00572	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.431270	0.27433	N	0.019390	T	0.00998	0.0033	N	0.13043	0.29	0.09310	N	0.999994	B;B	0.18310	0.027;0.009	B;B	0.27262	0.078;0.029	T	0.34650	-0.9820	10	0.22109	T	0.4	.	2.7986	0.05408	0.2315:0.4123:0.1826:0.1736	.	168;168	Q7Z7B2;P16562	.;CRIS2_HUMAN	H	168	ENSP00000339155:Q168H	ENSP00000211238:Q168H	Q	-	3	2	CRISP2	49773543	0.000000	0.05858	0.086000	0.20670	0.987000	0.75469	-5.568000	0.00113	-2.485000	0.00520	0.528000	0.53228	CAA		PASS	0.333	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		28	125	28	125	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51920404	51920404	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:51920404C>G	ENST00000371117.3	-	19	2092	c.1817G>C	c.(1816-1818)cGg>cCg	p.R606P	PKHD1_ENST00000340994.4_Missense_Mutation_p.R606P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	606					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.R606P(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)					CTGATCTAGCCGATAGCCCTT	0.552																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1816-1818)CGG>CCG		fibrocystin isoform 1							62.0	56.0	58.0					6																	51920404		2202	4299	6501	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.chr6:51920404C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1817G>C	6.37:g.51920404C>G	ENSP00000360158:p.Arg606Pro					PKHD1_uc003pai.2_Missense_Mutation_p.R606P	p.R606P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			19	2093	-	Lung NSC(77;0.0605)		606			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1817G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076528	0.36662	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88201	-2.35;-2.35	5.53	-1.31	0.09230	.	1.282710	0.05091	N	0.485252	T	0.74390	0.3710	L	0.51422	1.61	0.09310	N	1	P;P	0.43094	0.799;0.574	B;B	0.42692	0.395;0.112	T	0.65253	-0.6213	10	0.28530	T	0.3	.	4.7516	0.13063	0.1674:0.2559:0.0:0.5767	.	606;606	P08F94-2;P08F94	.;PKHD1_HUMAN	P	606	ENSP00000360158:R606P;ENSP00000341097:R606P	ENSP00000341097:R606P	R	-	2	0	PKHD1	52028363	0.039000	0.19947	0.011000	0.14972	0.290000	0.27261	0.299000	0.19138	-0.106000	0.12110	0.655000	0.94253	CGG		PASS	0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	36	10	36	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268189	52268189	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:52268189C>A	ENST00000442253.2	+	2	352	c.178C>A	c.(178-180)Cac>Aac	p.H60N	PAQR8_ENST00000360726.3_Missense_Mutation_p.H60N	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	60					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.H60N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCCACGGGGCACGAGTGGCG	0.597																																						uc003pao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)CAC>AAC		progestin and adipoQ receptor family member							60.0	63.0	62.0					6																	52268189		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268189C>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.178C>A	6.37:g.52268189C>A	ENSP00000406197:p.His60Asn						p.H60N	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	352	+	Lung NSC(77;0.0875)		60			Cytoplasmic (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.178C>A	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488182	0.64074	.	.	ENSG00000170915	ENST00000512121;ENST00000442253;ENST00000360726	T;T;T	0.39997	1.05;2.07;2.07	5.3	5.3	0.74995	.	0.058843	0.64402	D	0.000002	T	0.17704	0.0425	N	0.19112	0.55	0.47994	D	0.999561	B	0.23377	0.084	B	0.25759	0.063	T	0.05178	-1.0901	10	0.21540	T	0.41	-6.5363	17.9429	0.89030	0.0:1.0:0.0:0.0	.	60	Q8TEZ7	MPRB_HUMAN	N	60	ENSP00000427161:H60N;ENSP00000406197:H60N;ENSP00000353953:H60N	ENSP00000353953:H60N	H	+	1	0	PAQR8	52376148	1.000000	0.71417	0.984000	0.44739	0.937000	0.57800	7.818000	0.86416	2.485000	0.83878	0.655000	0.94253	CAC		PASS	0.597	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		21	42	21	42	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63995609	63995609	+	Silent	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:63995609A>G	ENST00000370657.4	-	3	246	c.213T>C	c.(211-213)tcT>tcC	p.S71S	LGSN_ENST00000370658.5_Silent_p.S71S			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	71					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.S71S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTCATTCTAGAAGAGAGTT	0.438																																						uc003peh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(211-213)TCT>TCC		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						106.0	96.0	99.0					6																	63995609		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995609A>G	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.213T>C	6.37:g.63995609A>G						LGSN_uc003pei.2_Silent_p.S71S|LGSN_uc003pej.1_Intron	p.S71S	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	247	-			71					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.213T>C	CCDS4964.1																																																																																				PASS	0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		16	39	16	39	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70639375	70639375	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:70639375A>C	ENST00000322773.4	+	6	551	c.449A>C	c.(448-450)gAg>gCg	p.E150A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	150	Laminin G-like.				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.E150A(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						CAAGCCACAGAGGGAGATGTG	0.353																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(448-450)GAG>GCG		alpha 1 type XIX collagen precursor							105.0	103.0	104.0					6																	70639375		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639375A>C		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.449A>C	6.37:g.70639375A>C	ENSP00000316030:p.Glu150Ala					COL19A1_uc010kam.1_Missense_Mutation_p.E46A	p.E150A	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	566	+			150			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.449A>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	7.390	0.630640	0.14322	.	.	ENSG00000082293	ENST00000322773	T	0.13538	2.58	5.3	4.09	0.47781	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.227080	0.36101	N	0.002781	T	0.04907	0.0132	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16600	-1.0397	10	0.22109	T	0.4	.	6.7432	0.23447	0.7689:0.1546:0.0765:0.0	.	150	Q14993	COJA1_HUMAN	A	150	ENSP00000316030:E150A	ENSP00000316030:E150A	E	+	2	0	COL19A1	70696096	0.997000	0.39634	0.940000	0.37924	0.519000	0.34347	1.043000	0.30316	0.802000	0.34089	0.383000	0.25322	GAG		PASS	0.353	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			21	56	21	56	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76545620	76545620	+	Missense_Mutation	SNP	A	A	T	rs200288802		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:76545620A>T	ENST00000369977.3	+	7	639	c.500A>T	c.(499-501)tAc>tTc	p.Y167F	MYO6_ENST00000369985.4_Missense_Mutation_p.Y167F|MYO6_ENST00000369981.3_Missense_Mutation_p.Y167F|MYO6_ENST00000369975.1_Missense_Mutation_p.Y167F	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	167	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.Y167F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTAAACAGATACCTGACTGAA	0.284																																						uc003pih.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(499-501)TAC>TTC		myosin VI							99.0	99.0	99.0					6																	76545620		2203	4299	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76545620A>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.500A>T	6.37:g.76545620A>T	ENSP00000358994:p.Tyr167Phe					MYO6_uc003pig.1_Missense_Mutation_p.Y167F|MYO6_uc003pii.1_Missense_Mutation_p.Y167F	p.Y167F	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	7	779	+		all_hematologic(105;0.189)	167			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.500A>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.267918	0.80469	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	L	0.52011	1.625	0.80722	D	1	P;P	0.51449	0.945;0.923	P;D	0.68192	0.855;0.956	D	0.91504	0.5221	10	0.59425	D	0.04	.	14.154	0.65405	1.0:0.0:0.0:0.0	.	167;167	Q9UM54-2;Q9UM54-1	.;.	F	167	ENSP00000358998:Y167F;ENSP00000359002:Y167F;ENSP00000358994:Y167F;ENSP00000358992:Y167F	ENSP00000358992:Y167F	Y	+	2	0	MYO6	76602340	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	8.768000	0.91737	1.793000	0.52555	0.377000	0.23210	TAC		PASS	0.284	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		15	51	15	51	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87969153	87969153	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:87969153G>C	ENST00000369577.3	+	8	5849	c.5806G>C	c.(5806-5808)Gaa>Caa	p.E1936Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E1931Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1936						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E1791Q(1)|p.E1936Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATGATTCTTGAAATTAAGAA	0.348																																						uc003plm.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(5806-5808)GAA>CAA		zinc finger protein 292							22.0	22.0	22.0					6																	87969153		1827	4069	5896	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969153G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5806G>C	6.37:g.87969153G>C	ENSP00000358590:p.Glu1936Gln						p.E1936Q	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5847	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1936					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5806G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295497	0.40594	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07327	3.2;3.21	6.11	6.11	0.99139	.	0.136017	0.64402	D	0.000003	T	0.06962	0.0177	N	0.11427	0.14	0.38928	D	0.957878	D	0.71674	0.998	D	0.63381	0.914	T	0.51482	-0.8700	10	0.13108	T	0.6	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	1936	O60281	ZN292_HUMAN	Q	1936;1931	ENSP00000358590:E1936Q;ENSP00000342847:E1931Q	ENSP00000342847:E1931Q	E	+	1	0	ZNF292	88025872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.620000	0.61226	2.906000	0.99361	0.655000	0.94253	GAA		PASS	0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	7	5	7	---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88769251	88769251	+	Silent	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:88769251A>C	ENST00000237201.1	+	5	672	c.555A>C	c.(553-555)acA>acC	p.T185T	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	185					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.T185T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGTGTGACACACTGGATAATA	0.353																																						uc003pmn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(553-555)ACA>ACC		sperm acrosome associated 1 precursor							100.0	97.0	98.0					6																	88769251		2203	4300	6503	SO:0001819	synonymous_variant	81833					integral to membrane		g.chr6:88769251A>C	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.555A>C	6.37:g.88769251A>C							p.T185T	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	5	672	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	185			Extracellular (Potential).			Silent	SNP	ENST00000237201.1	37	c.555A>C	CCDS5014.1																																																																																				PASS	0.353	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			19	48	19	48	---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300817	110300817	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:110300817C>A	ENST00000275169.3	+	1	520	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	GPR6_ENST00000414000.2_Missense_Mutation_p.L183M	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	168					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L168M(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGACCGCTACCTGTCCCTGTA	0.652																																						uc011eaw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CTG>ATG		G protein-coupled receptor 6							81.0	81.0	81.0					6																	110300817		2203	4300	6503	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110300817C>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.502C>A	6.37:g.110300817C>A	ENSP00000275169:p.Leu168Met					GPR6_uc011eav.1_Missense_Mutation_p.L183M|GPR6_uc003ptu.2_Missense_Mutation_p.L168M	p.L168M	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	682	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	168			Cytoplasmic (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.502C>A	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621848	0.66787	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.46451	0.87;0.87	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.164275	0.42172	D	0.000751	T	0.60327	0.2260	M	0.79123	2.44	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	T	0.62181	-0.6908	10	0.48119	T	0.1	.	18.0945	0.89485	0.0:1.0:0.0:0.0	.	183;168	B4DHS9;P46095	.;GPR6_HUMAN	M	168;183;168	ENSP00000406986:L183M;ENSP00000275169:L168M	ENSP00000275169:L168M	L	+	1	2	GPR6	110407510	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.941000	0.40233	2.504000	0.84457	0.563000	0.77884	CTG		PASS	0.652	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			15	65	15	65	---	---	---	---
FRK	2444	broad.mit.edu	37	6	116289834	116289834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:116289834G>A	ENST00000606080.1	-	3	981	c.535C>T	c.(535-537)Cga>Tga	p.R179*	FRK_ENST00000538210.1_Nonsense_Mutation_p.R37*	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	179	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R179*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	ATTCTTCTTCGCGTGAGAAAA	0.403																																						uc003pwi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(3)	6						c.(535-537)CGA>TGA		fyn-related kinase							142.0	138.0	139.0					6																	116289834		2203	4300	6503	SO:0001587	stop_gained	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116289834G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.535C>T	6.37:g.116289834G>A	ENSP00000476145:p.Arg179*						p.R179*	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	3	982	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	179			SH2.		B4DY49|Q13128|Q9NTR5	Nonsense_Mutation	SNP	ENST00000606080.1	37	c.535C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055108	0.55325	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	.	.	.	5.98	2.93	0.34026	.	0.607667	0.15135	N	0.278651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.2482	0.60036	0.0:0.0:0.3572:0.6428	.	.	.	.	X	179;37	.	ENSP00000357615:R179X	R	-	1	2	FRK	116396527	0.064000	0.20934	0.003000	0.11579	0.365000	0.29674	2.103000	0.41806	0.763000	0.33175	0.591000	0.81541	CGA		PASS	0.403	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		38	133	38	133	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127797137	127797137	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:127797137G>T	ENST00000525778.1	-	6	2779	c.2034C>A	c.(2032-2034)aaC>aaA	p.N678K	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.N678K|SOGA3_ENST00000368268.2_Missense_Mutation_p.N678K|SOGA3_ENST00000556132.1_Missense_Mutation_p.N678K|SOGA3_ENST00000465909.2_Missense_Mutation_p.N678K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	678					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.N678K(1)									ACTTGTACTTGTTGAGCTCCG	0.662																																						uc003qbd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2032-2034)AAC>AAA		hypothetical protein LOC387104 precursor							66.0	71.0	69.0					6																	127797137		2191	4295	6486	SO:0001583	missense	387104					integral to membrane		g.chr6:127797137G>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2034C>A	6.37:g.127797137G>T	ENSP00000434570:p.Asn678Lys					C6orf174_uc003qbc.2_5'Flank	p.N678K	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	2899	-			678			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.2034C>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132293	0.56828	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.22	3.09	0.35607	.	0.084454	0.85682	D	0.000000	T	0.37972	0.1023	M	0.72894	2.215	0.48185	D	0.999609	D	0.61080	0.989	D	0.67231	0.95	T	0.18053	-1.0349	10	0.28530	T	0.3	-12.3216	12.6049	0.56516	0.1597:0.0:0.8403:0.0	.	678	Q5TF21	CF174_HUMAN	K	678	ENSP00000451768:N678K;ENSP00000357251:N678K;ENSP00000434570:N678K;ENSP00000435559:N678K	ENSP00000435559:N678K	N	-	3	2	C6orf174	127838830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.294000	0.43567	1.212000	0.43366	0.561000	0.74099	AAC		PASS	0.662	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		32	94	32	94	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129807696	129807696	+	Silent	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:129807696T>A	ENST00000421865.2	+	56	7876	c.7827T>A	c.(7825-7827)atT>atA	p.I2609I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2609	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.I2609I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGGAAAATTGTGATCAGAC	0.433																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(7825-7827)ATT>ATA		laminin alpha 2 subunit isoform a precursor							110.0	91.0	97.0					6																	129807696		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129807696T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7827T>A	6.37:g.129807696T>A						LAMA2_uc003qbo.2_Silent_p.I2605I|uc003qbq.2_RNA	p.I2609I	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	55	7932	+			2609			Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.7827T>A	CCDS5138.1																																																																																				PASS	0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			31	70	31	70	---	---	---	---
IL20RA	53832	broad.mit.edu	37	6	137323265	137323265	+	Silent	SNP	C	C	T	rs202196623		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:137323265C>T	ENST00000316649.5	-	7	1327	c.1092G>A	c.(1090-1092)tcG>tcA	p.S364S	IL20RA_ENST00000367748.1_Silent_p.S253S|IL20RA_ENST00000541547.1_Silent_p.S315S|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	364					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.S364S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCATCAAATGCGAAGCATACC	0.483																																						uc003qhj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1090-1092)TCG>TCA		interleukin 20 receptor, alpha precursor							64.0	62.0	63.0					6																	137323265		2203	4300	6503	SO:0001819	synonymous_variant	53832					integral to membrane	receptor activity	g.chr6:137323265C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1092G>A	6.37:g.137323265C>T						IL20RA_uc011edl.1_Silent_p.S315S|IL20RA_uc003qhk.2_Silent_p.S253S|IL20RA_uc003qhi.2_Silent_p.S96S	p.S364S	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	7	1525	-	Colorectal(23;0.24)		364			Cytoplasmic (Potential).		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	c.1092G>A	CCDS5181.1																																																																																				PASS	0.483	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		34	85	34	85	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653564	159653564	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr6:159653564C>G	ENST00000297267.9	+	11	2220	c.2020C>G	c.(2020-2022)Cgc>Ggc	p.R674G	FNDC1_ENST00000340366.6_Missense_Mutation_p.R611G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	674	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R674G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCCCCAGCCGCCAGTCCCC	0.706																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2020-2022)CGC>GGC		fibronectin type III domain containing 1							14.0	18.0	16.0					6																	159653564		1923	4055	5978	SO:0001583	missense	84624					extracellular region		g.chr6:159653564C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2020C>G	6.37:g.159653564C>G	ENSP00000297267:p.Arg674Gly					FNDC1_uc010kjw.1_Missense_Mutation_p.R559G	p.R674G	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2220	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	674			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2020C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.60|15.60	2.880748|2.880748	0.51801|0.51801	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08634	.|3.07;3.85	5.05|5.05	2.19|2.19	0.27852|0.27852	.|.	.|1.542380	.|0.03329	.|N	.|0.193070	T|T	0.02649|0.02649	0.0080|0.0080	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|B;B	.|0.20052	.|0.041;0.006	.|B;B	.|0.17979	.|0.02;0.003	T|T	0.43163|0.43163	-0.9408|-0.9408	5|10	.|0.72032	.|D	.|0.01	-3.6608|-3.6608	7.5117|7.5117	0.27577|0.27577	0.3323:0.5058:0.1619:0.0|0.3323:0.5058:0.1619:0.0	.|.	.|611;674	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	R|G	569|674;611	.|ENSP00000297267:R674G;ENSP00000342460:R611G	.|ENSP00000297267:R674G	P|R	+|+	2|1	0|0	FNDC1|FNDC1	159573554|159573554	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.515000|0.515000	0.34225|0.34225	0.196000|0.196000	0.17176|0.17176	0.136000|0.136000	0.18733|0.18733	0.655000|0.655000	0.94253|0.94253	CCG|CGC		PASS	0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	9	6	9	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2290629	2290629	+	IGR	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:2290629C>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000397046.1_Missense_Mutation_p.T155M|NUDT1_ENST00000397048.1_Missense_Mutation_p.T178M|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000356714.1_Missense_Mutation_p.T155M|NUDT1_ENST00000397049.1_Missense_Mutation_p.T178M|NUDT1_ENST00000339737.2_Missense_Mutation_p.T155M|NUDT1_ENST00000343985.4_Missense_Mutation_p.T178M	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.T178M(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GAGGTGGACACGGTCTAGCGG	0.602																																						uc003slp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)ACG>ATG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22							74.0	81.0	79.0					7																	2290629		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2290629C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2290629C>T						NUDT1_uc003slq.1_Missense_Mutation_p.T155M|NUDT1_uc003slr.1_Missense_Mutation_p.T155M|NUDT1_uc003sls.1_Missense_Mutation_p.T178M|NUDT1_uc003slt.1_Missense_Mutation_p.T155M|NUDT1_uc003slu.1_Missense_Mutation_p.T178M|NUDT1_uc003slv.1_Missense_Mutation_p.T155M	p.T178M	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	5	635	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	196					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.533C>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954134	0.34471	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.33216	1.46;1.42;1.46;1.42;1.42;1.46	4.98	-6.51	0.01878	NUDIX hydrolase domain-like (1);	20.577700	0.00871	N	0.002027	T	0.24122	0.0584	L	0.47716	1.5	0.09310	N	1	P	0.44521	0.837	B	0.36719	0.231	T	0.48258	-0.9051	10	0.54805	T	0.06	-26.7378	9.1915	0.37202	0.5787:0.2741:0.0:0.1472	.	196	P36639	8ODP_HUMAN	M	155;178;155;178;178;155	ENSP00000349148:T155M;ENSP00000380242:T178M;ENSP00000380239:T155M;ENSP00000380241:T178M;ENSP00000339503:T178M;ENSP00000343439:T155M	ENSP00000343439:T155M	T	+	2	0	NUDT1	2257155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.458000	0.06737	-1.146000	0.02854	0.462000	0.41574	ACG		PASS	0.602	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			28	169	28	169	---	---	---	---
GPR141	353345	broad.mit.edu	37	7	37780012	37780012	+	Missense_Mutation	SNP	C	C	A	rs199643208		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:37780012C>A	ENST00000447769.1	+	4	306	c.17C>A	c.(16-18)aCc>aAc	p.T6N	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T6N			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T6N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGCCACAATACCTCCAGGAAT	0.468																																						uc003tfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(16-18)ACC>AAC		G protein-coupled receptor 141							173.0	176.0	175.0					7																	37780012		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780012C>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.17C>A	7.37:g.37780012C>A	ENSP00000390410:p.Thr6Asn					uc003tfl.2_Intron	p.T6N	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	17	+			6			Extracellular (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.17C>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102372	0.08731	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.37411	1.2;2.17;2.17	4.76	-9.51	0.00581	.	2.496190	0.01731	N	0.028863	T	0.15089	0.0364	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21759	-1.0236	10	0.16896	T	0.51	4.16	0.762	0.01008	0.2628:0.3073:0.1661:0.2638	.	6	Q7Z602	GP141_HUMAN	N	6	ENSP00000396300:T6N;ENSP00000390410:T6N;ENSP00000334540:T6N	ENSP00000334540:T6N	T	+	2	0	GPR141	37746537	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.405000	0.02492	-4.785000	0.00032	-1.107000	0.02091	ACC		PASS	0.468	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		90	235	90	235	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103474	53103474	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:53103474C>T	ENST00000408890.4	+	1	126	c.110C>T	c.(109-111)cCc>cTc	p.P37L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	37								p.P37L(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCAGGTCACCCAGCACGCCC	0.682																																						uc003tpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CCC>CTC		POM121 membrane glycoprotein-like 12							22.0	28.0	26.0					7																	53103474		2048	4187	6235	SO:0001583	missense	285877							g.chr7:53103474C>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.110C>T	7.37:g.53103474C>T	ENSP00000386133:p.Pro37Leu						p.P37L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	126	+			37					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.110C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504308	0.26949	.	.	ENSG00000221900	ENST00000408890	T	0.25250	1.81	1.81	-3.17	0.05202	.	.	.	.	.	T	0.04227	0.0117	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30534	-0.9975	9	0.02654	T	1	.	0.084	0.00034	0.2436:0.1899:0.2464:0.3201	.	37	Q8N7R1	P1L12_HUMAN	L	37	ENSP00000386133:P37L	ENSP00000386133:P37L	P	+	2	0	POM121L12	53070968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.052000	0.11865	-0.741000	0.04797	0.313000	0.20887	CCC		PASS	0.682	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		16	35	16	35	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66774573	66774573	+	RNA	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:66774573G>T	ENST00000416602.2	+	0	590					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)									p.L105L(1)		endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGACCTCCCTGGTAAGAGTTG	0.468																																						uc003tvt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CTG>CTT		stromal antigen 3-like 4							121.0	125.0	124.0					7																	66774573		2203	4300	6503			64940							g.chr7:66774573G>T			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774573G>T						STAG3L4_uc010laj.2_RNA	p.L105L	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN			4	582	+		Lung NSC(55;0.0839)|all_lung(88;0.181)	105					Q9H8W0	Silent	SNP	ENST00000416602.2	37	c.315G>T																																																																																					PASS	0.468	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		166	148	166	148	---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72742586	72742586	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:72742586C>T	ENST00000252037.4	+	2	135	c.66C>T	c.(64-66)taC>taT	p.Y22Y	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Silent_p.Y17Y|FKBP6_ENST00000413573.2_Silent_p.Y22Y|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	22					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.Y22Y(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)				AGTCCCTGTACGAGCGGTTAA	0.632																																						uc003tya.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(64-66)TAC>TAT		FK506 binding protein 6 isoform a							3.0	3.0	3.0					7																	72742586		1433	3240	4673	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72742586C>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.66C>T	7.37:g.72742586C>T						FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y17Y|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	p.Y22Y	NM_003602	NP_003593	O75344	FKBP6_HUMAN			2	198	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	22					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.66C>T	CCDS43595.1																																																																																				PASS	0.632	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		9	62	9	62	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83023654	83023654	+	Splice_Site	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:83023654C>A	ENST00000307792.3	-	13	1926	c.1459G>T	c.(1459-1461)Gat>Tat	p.D487Y	SEMA3E_ENST00000427262.1_Splice_Site_p.D427Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	487	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D487Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GGAACTGGATCCTGAAATTTT	0.318																																						uc003uhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1459-1461)GAT>TAT		semaphorin 3E precursor							42.0	43.0	43.0					7																	83023654		2203	4300	6503	SO:0001630	splice_region_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83023654C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1459-1G>T	7.37:g.83023654C>A							p.D487Y	NM_012431	NP_036563	O15041	SEM3E_HUMAN			13	1925	-		Medulloblastoma(109;0.109)	487			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1459G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940031	0.73557	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.12465	2.68;2.68	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.052587	0.85682	D	0.000000	T	0.24160	0.0585	L	0.46157	1.445	0.49798	D	0.999821	P	0.41978	0.767	P	0.50314	0.637	T	0.00057	-1.2172	10	0.66056	D	0.02	.	15.5055	0.75735	0.0:0.9323:0.0:0.0677	.	487	O15041	SEM3E_HUMAN	Y	487;427;487	ENSP00000303212:D487Y;ENSP00000405052:D427Y	ENSP00000303212:D487Y	D	-	1	0	SEMA3E	82861590	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.015000	0.40961	2.833000	0.97629	0.585000	0.79938	GAT		PASS	0.318	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	Missense_Mutation	59	62	59	62	---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90226026	90226026	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:90226026C>A	ENST00000380050.3	+	1	216	c.85C>A	c.(85-87)Cgc>Agc	p.R29S	AC002456.2_ENST00000441971.1_RNA|AC002456.2_ENST00000412669.1_RNA|AC002456.2_ENST00000415965.1_RNA			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	29					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R29S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAGTTTCAGTCGCATTGGTGA	0.677																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(85-87)CGC>AGC		PFTAIRE protein kinase 1							30.0	33.0	32.0					7																	90226026		876	1991	2867	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90226026C>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.85C>A	7.37:g.90226026C>A	ENSP00000369390:p.Arg29Ser					CDK14_uc003ukt.1_Intron|CDK14_uc003ukv.1_Intron|CDK14_uc003uku.1_Intron|CDK14_uc003ukx.1_Intron	p.R29S	NM_012395	NP_036527	O94921	CDK14_HUMAN			1	307	+			29					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.85C>A		.	.	.	.	.	.	.	.	.	.	C	18.41	3.618506	0.66787	.	.	ENSG00000058091	ENST00000380050	T	0.71222	-0.55	4.19	4.19	0.49359	.	0.094549	0.46442	D	0.000296	T	0.65123	0.2661	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.65730	-0.6097	9	0.66056	D	0.02	-0.0224	17.052	0.86521	0.0:1.0:0.0:0.0	.	29	O94921	CDK14_HUMAN	S	29	ENSP00000369390:R29S	ENSP00000369390:R29S	R	+	1	0	CDK14	90063962	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.804000	0.47931	2.311000	0.77944	0.591000	0.81541	CGC		PASS	0.677	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		13	50	13	50	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92837893	92837893	+	Splice_Site	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:92837893C>T	ENST00000394468.2	-	4	1089	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	HEPACAM2_ENST00000492616.1_5'Flank|HEPACAM2_ENST00000453812.2_Splice_Site_p.G361R|HEPACAM2_ENST00000341723.4_Splice_Site_p.G326R|HEPACAM2_ENST00000440868.1_Splice_Site_p.G326R	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	338					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.G326R(1)|p.G338R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TCACACATACCTACGGAAGTG	0.413																																						uc003umm.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(1012-1014)GGA>AGA		HEPACAM family member 2 isoform 1							103.0	87.0	92.0					7																	92837893		2203	4300	6503	SO:0001630	splice_region_variant	253012					integral to membrane		g.chr7:92837893C>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1012+1G>A	7.37:g.92837893C>T						HEPACAM2_uc003uml.2_Missense_Mutation_p.G326R|HEPACAM2_uc010lff.2_Missense_Mutation_p.G326R|HEPACAM2_uc011khy.1_Missense_Mutation_p.G361R	p.G338R	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	1035	-			338			Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.1012G>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782953	0.70222	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.53423	0.62;0.63;0.66;0.64	5.04	5.04	0.67666	.	0.112748	0.64402	D	0.000010	T	0.59280	0.2182	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.993;0.988;0.986;0.994	T	0.54761	-0.8245	9	.	.	.	-13.9612	19.2552	0.93943	0.0:1.0:0.0:0.0	.	361;326;338;326	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	R	338;326;326;361	ENSP00000377980:G338R;ENSP00000340532:G326R;ENSP00000389592:G326R;ENSP00000390204:G361R	.	G	-	1	0	HEPACAM2	92675829	1.000000	0.71417	0.989000	0.46669	0.350000	0.29205	4.383000	0.59600	2.720000	0.93068	0.655000	0.94253	GGA		PASS	0.413	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	Missense_Mutation	58	175	58	175	---	---	---	---
BUD31	8896	broad.mit.edu	37	7	99013774	99013774	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:99013774G>A	ENST00000403633.2	+	4	637	c.108G>A	c.(106-108)ccG>ccA	p.P36P	BUD31_ENST00000222969.5_Silent_p.P36P|snoU13_ENST00000458831.1_RNA|BUD31_ENST00000431419.1_Silent_p.P7P|BUD31_ENST00000456893.1_Intron			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	36					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P36P(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAACAGAACCGCATGAGGGAA	0.463																																						uc003uqf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(106-108)CCG>CCA		G10 protein							110.0	102.0	105.0					7																	99013774		2203	4300	6503	SO:0001819	synonymous_variant	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99013774G>A	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"""G10 maternal transcript homolog (Xenopus laevis)"", ""functional spliceosome-associated protein 17"""	603477	"""BUD31 homolog (yeast)"""			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.108G>A	7.37:g.99013774G>A						BUD31_uc011kiu.1_Silent_p.P36P|BUD31_uc011kiv.1_Silent_p.P36P|BUD31_uc003uqg.3_Silent_p.P36P	p.P36P	NM_003910	NP_003901	P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	309	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		36					A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Silent	SNP	ENST00000403633.2	37	c.108G>A	CCDS5663.1																																																																																				PASS	0.463	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		13	138	13	138	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99441866	99441866	+	Splice_Site	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:99441866G>A	ENST00000354829.2	+	4	421		c.e4+1		CYP3A43_ENST00000222382.5_Splice_Site|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Splice_Site|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AAACCAGATGGTAGGCCTATA	0.368																																						uc003urx.1																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e4+1		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						84.0	77.0	79.0					7																	99441866		2203	4300	6503	SO:0001630	splice_region_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99441866G>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.318+1G>A	7.37:g.99441866G>A						CYP3A43_uc003ury.1_Splice_Site_p.M106_splice|CYP3A43_uc003urz.1_Splice_Site_p.M106_splice|CYP3A43_uc003usa.1_Splice_Site|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Intron	p.M106_splice	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			4	421	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)							Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Splice_Site	SNP	ENST00000354829.2	37	c.318_splice	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289854	0.40494	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	.	.	.	2.76	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.644	0.51250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP3A43	99279802	1.000000	0.71417	0.195000	0.23364	0.201000	0.24016	6.841000	0.75374	1.482000	0.48325	0.205000	0.17691	.		PASS	0.368	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		Intron	9	139	9	139	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100385658	100385658	+	RNA	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:100385658G>A	ENST00000348028.3	+	0	7291				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2375H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGAAGGACGCAACAAGATG	0.567																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7126-7128)CGC>CAC		zonadhesin isoform 3							87.0	77.0	80.0					7																	100385658		1962	4134	6096			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100385658G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385658G>A						ZAN_uc003uwk.2_Missense_Mutation_p.R2376H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R426H	p.R2376H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		39	7292	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2376			VWFD 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.7127G>A		.	.	.	.	.	.	.	.	.	.	g	12.72	2.022515	0.35701	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.77	3.89	0.44902	von Willebrand factor, type D domain (3);	0.384494	0.20347	N	0.094139	T	0.69459	0.3113	.	.	.	0.23204	N	0.998123	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.995	T	0.58261	-0.7667	9	0.35671	T	0.21	.	9.8686	0.41160	0.0977:0.0:0.9023:0.0	.	849;2375;2376	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	H	2375;2375;2375;849	ENSP00000445943:R2375H;ENSP00000445091:R2375H;ENSP00000444427:R2375H;ENSP00000441117:R849H	ENSP00000445091:R2375H	R	+	2	0	ZAN	100223594	0.941000	0.31946	0.978000	0.43139	0.058000	0.15608	0.958000	0.29227	1.345000	0.45676	-0.127000	0.14921	CGC		PASS	0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		19	140	19	140	---	---	---	---
ST7	7982	broad.mit.edu	37	7	116739883	116739883	+	Silent	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:116739883A>T	ENST00000393446.2	+	2	522	c.219A>T	c.(217-219)atA>atT	p.I73I	ST7_ENST00000393449.1_Silent_p.I73I|ST7_ENST00000265437.5_Silent_p.I73I|ST7_ENST00000323984.3_Silent_p.I73I|ST7_ENST00000393451.3_Silent_p.I73I|ST7_ENST00000393444.3_Silent_p.I30I|ST7_ENST00000432298.1_Silent_p.I27I|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000422922.1_Silent_p.I27I|ST7_ENST00000393447.4_Silent_p.I30I|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393443.1_Silent_p.I23I|ST7_ENST00000465133.1_Silent_p.I30I			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	503	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.I73I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCACTAATATCAGGGCTTA	0.373																																						uc003vin.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(217-219)ATA>ATT		suppression of tumorigenicity 7 isoform b							133.0	120.0	124.0					7																	116739883		2203	4300	6503	SO:0001819	synonymous_variant	7982					integral to membrane	binding	g.chr7:116739883A>T	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.219A>T	7.37:g.116739883A>T						ST7_uc011knl.1_Silent_p.I73I|ST7_uc003vio.2_Silent_p.I73I|ST7_uc003viq.2_Silent_p.I27I|ST7_uc011knm.1_Silent_p.I30I|ST7_uc003vir.2_Silent_p.I21I|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Silent_p.I21I	p.I73I	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	433	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		73			Helical; (Potential).		A8K137|B4DRQ2	Silent	SNP	ENST00000393446.2	37	c.219A>T																																																																																					PASS	0.373	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		41	54	41	54	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332580	123332580	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:123332580C>A	ENST00000223023.4	-	9	1500	c.1168G>T	c.(1168-1170)Ggc>Tgc	p.G390C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	390	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.G390C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAGGCAGGCCAGGCGGGGGC	0.592																																						uc003vkz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)GGC>TGC		Wiskott-Aldrich syndrome gene-like protein							49.0	55.0	53.0					7																	123332580		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332580C>A	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1168G>T	7.37:g.123332580C>A	ENSP00000223023:p.Gly390Cys						p.G390C	NM_003941	NP_003932	O00401	WASL_HUMAN			9	1496	-			390			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1168G>T	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711855	0.30322	.	.	ENSG00000106299	ENST00000223023	D	0.94537	-3.45	5.15	5.15	0.70609	Wiscott-Aldrich syndrome, C-terminal (1);	0.224693	0.45361	D	0.000378	D	0.92557	0.7636	N	0.08118	0	0.49130	D	0.999756	D	0.67145	0.996	P	0.57371	0.819	D	0.93872	0.7163	10	0.49607	T	0.09	-7.9511	18.9889	0.92783	0.0:1.0:0.0:0.0	.	390	O00401	WASL_HUMAN	C	390	ENSP00000223023:G390C	ENSP00000223023:G390C	G	-	1	0	WASL	123119816	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	4.249000	0.58766	2.563000	0.86464	0.650000	0.86243	GGC		PASS	0.592	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		26	75	26	75	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131865381	131865381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:131865381G>T	ENST00000359827.3	-	19	4565	c.3603C>A	c.(3601-3603)tgC>tgA	p.C1201*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.C1201*			Q9HCM2	PLXA4_HUMAN	plexin A4	1201	IPT/TIG 4.				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.C1201*(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGGGACTCGCAGAGCAGCT	0.612																																						uc003vra.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(3601-3603)TGC>TGA		plexin A4 isoform 1							61.0	65.0	64.0					7																	131865381		2128	4252	6380	SO:0001587	stop_gained	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131865381G>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.3603C>A	7.37:g.131865381G>T	ENSP00000352882:p.Cys1201*						p.C1201*	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			19	3832	-			1201			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	c.3603C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	44	10.905167	0.99486	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	5.38	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8952	0.63766	0.1313:0.0:0.8687:0.0	.	.	.	.	X	1201	.	ENSP00000323194:C1201X	C	-	3	2	PLXNA4	131515921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.630000	0.37081	2.551000	0.86045	0.561000	0.74099	TGC		PASS	0.612	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	53	5	53	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137531210	137531210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:137531210G>T	ENST00000288490.5	-	1	399	c.399C>A	c.(397-399)taC>taA	p.Y133*	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000424189.2_Nonsense_Mutation_p.Y133*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.Y133*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	133					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.Y133*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCACCTACCTGTACGAGACCT	0.677																																						uc003vtt.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(397-399)TAC>TAA		diacylglycerol kinase, iota							25.0	25.0	25.0					7																	137531210		2195	4290	6485	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137531210G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.399C>A	7.37:g.137531210G>T	ENSP00000288490:p.Tyr133*					DGKI_uc003vtu.2_5'UTR	p.Y133*	NM_004717	NP_004708	O75912	DGKI_HUMAN			1	400	-			133					A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	c.399C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	41	9.147753	0.99080	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	4.12	4.12	0.48240	.	0.000000	0.36101	N	0.002794	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2824	0.73797	0.0:0.0:1.0:0.0	.	.	.	.	X	81;133;133;133	.	ENSP00000288490:Y133X	Y	-	3	2	DGKI	137181750	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.774000	0.62339	2.130000	0.65690	0.591000	0.81541	TAC		PASS	0.677	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		3	30	3	30	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138394385	138394385	+	Missense_Mutation	SNP	C	C	T	rs369999617		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:138394385C>T	ENST00000310018.2	-	21	2695	c.2413G>A	c.(2413-2415)Gcc>Acc	p.A805T	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A805T|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A805T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	805					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.A805T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGTCGCAGGGCGTGCAGGAAA	0.552																																						uc003vuf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2413-2415)GCC>ACC		ATPase, H+ transporting, lysosomal V0 subunit		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	175.0	172.0	173.0		2413,2413,2413	5.7	1.0	7		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATP6V0A4	NM_020632.2,NM_130840.2,NM_130841.2	58,58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	805/841,805/841,805/841	138394385	2,13004	2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394385C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2413G>A	7.37:g.138394385C>T	ENSP00000308122:p.Ala805Thr					ATP6V0A4_uc003vug.2_Missense_Mutation_p.A805T|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.A805T	p.A805T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			20	2651	-			805			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2413G>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154177	0.78114	2.27E-4	1.16E-4	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.90261	-2.64;-2.64;-2.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90047	0.4146	10	0.18276	T	0.48	-27.0032	19.8636	0.96797	0.0:1.0:0.0:0.0	.	805	Q9HBG4	VPP4_HUMAN	T	805	ENSP00000308122:A805T;ENSP00000376774:A805T;ENSP00000253856:A805T	ENSP00000308122:A805T	A	-	1	0	ATP6V0A4	138044925	1.000000	0.71417	0.974000	0.42286	0.959000	0.62525	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	GCC		PASS	0.552	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		66	253	66	253	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138566135	138566135	+	Splice_Site	SNP	T	T	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:138566135T>G	ENST00000422774.1	-	11	4276	c.4228A>C	c.(4228-4230)Aga>Cga	p.R1410R	KIAA1549_ENST00000242365.4_Splice_Site_p.R1360R|KIAA1549_ENST00000440172.1_Splice_Site_p.R1410R			Q9HCM3	K1549_HUMAN	KIAA1549	1410						integral component of membrane (GO:0016021)		p.R1360R(1)|p.R1410R(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AATAATAACCTTCCTCTGTGA	0.502			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.(4228-4230)AGA>CGA		hypothetical protein LOC57670 isoform 1							115.0	118.0	117.0					7																	138566135		1977	4157	6134	SO:0001630	splice_region_variant	57670					integral to membrane		g.chr7:138566135T>G		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.4229+1A>C	7.37:g.138566135T>G						KIAA1549_uc011kqi.1_Silent_p.R194R|KIAA1549_uc003vuk.3_Silent_p.R1360R|KIAA1549_uc011kqj.1_Silent_p.R1410R|KIAA1549_uc011kqk.1_Silent_p.R194R	p.R1410R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			11	4277	-			1410					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.4228A>C	CCDS56513.1																																																																																				PASS	0.502	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		Silent	18	80	18	80	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139257879	139257879	+	Missense_Mutation	SNP	C	C	T	rs370105109		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:139257879C>T	ENST00000406875.3	-	15	3485	c.3391G>A	c.(3391-3393)Gtg>Atg	p.V1131M	HIPK2_ENST00000428878.2_Missense_Mutation_p.V1104M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1131	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.V1131M(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTGTGCTGCACGGTGTGGCGC	0.711																																						uc003vvf.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(3391-3393)GTG>ATG		homeodomain interacting protein kinase 2 isoform		C	MET/VAL,MET/VAL	5,4271		0,5,2133	24.0	29.0	27.0		2260,2341	3.6	1.0	7		27	0,8468		0,0,4234	no	missense,missense	HIPK2	NM_001113239.2,NM_022740.4	21,21	0,5,6367	TT,TC,CC		0.0,0.1169,0.0392	possibly-damaging,possibly-damaging	754/822,781/849	139257879	5,12739	2138	4234	6372	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139257879C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3391G>A	7.37:g.139257879C>T	ENSP00000385571:p.Val1131Met					HIPK2_uc003vvd.3_Missense_Mutation_p.V1104M	p.V1131M	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			15	3565	-	Melanoma(164;0.205)		1131			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3391G>A		.	.	.	.	.	.	.	.	.	.	C	18.64	3.667612	0.67814	0.001169	0.0	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.53640	0.61;0.61	5.38	3.57	0.40892	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.41751	D	0.989664	B;B	0.32893	0.27;0.389	B;B	0.19946	0.012;0.027	T	0.25117	-1.0141	8	0.48119	T	0.1	.	10.8655	0.46853	0.0:0.8492:0.0:0.1508	.	1131;1104	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	M	1131;1104	ENSP00000385571:V1131M;ENSP00000413724:V1104M	ENSP00000385571:V1131M	V	-	1	0	HIPK2	138908419	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.266000	0.51569	1.278000	0.44430	0.655000	0.94253	GTG		PASS	0.711	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		5	11	5	11	---	---	---	---
TRBC2	28638	broad.mit.edu	37	7	142498768	142498768	+	RNA	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:142498768G>C	ENST00000466254.1	+	0	44							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CTGTGTTTGAGCCATCAGAAG	0.572																																						uc011ksh.1																			0													Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.							86.0	92.0	90.0					7																	142498768		2105	4232	6337			0							g.chr7:142498768G>C	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142498768G>C						uc011ksi.1_RNA|uc003vzw.1_RNA|uc010loj.1_RNA|uc003wad.2_RNA|uc003wag.1_3'UTR|uc003wbe.3_RNA|uc003wbf.3_RNA|uc003wbg.3_RNA|uc003wbh.3_Missense_Mutation_p.E61D|uc003wbi.3_RNA|uc003wbj.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA								3		+									RNA	SNP	ENST00000466254.1	37	c.147G>C																																																																																					PASS	0.572	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		9	102	9	102	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141257	143141257	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:143141257A>G	ENST00000332690.1	+	1	712	c.712A>G	c.(712-714)Agt>Ggt	p.S238G	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	238					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S238G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCGAGAGCCCAGTGTGCAGGC	0.483																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(712-714)AGT>GGT		taste receptor, type 2, member 60							121.0	126.0	124.0					7																	143141257		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141257A>G	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.712A>G	7.37:g.143141257A>G	ENSP00000327724:p.Ser238Gly					uc003wda.2_Intron	p.S238G	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	712	+	Melanoma(164;0.172)		238			Helical; Name=6; (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.712A>G	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.037217	0.54896	.	.	ENSG00000185899	ENST00000332690	T	0.37915	1.17	5.62	-10.4	0.00318	.	0.782087	0.11351	U	0.573000	T	0.30696	0.0773	M	0.62723	1.935	0.09310	N	1	D	0.53312	0.959	P	0.50049	0.629	T	0.06320	-1.0833	10	0.66056	D	0.02	.	2.8441	0.05538	0.2013:0.3442:0.0681:0.3865	.	238	P59551	T2R60_HUMAN	G	238	ENSP00000327724:S238G	ENSP00000327724:S238G	S	+	1	0	TAS2R60	142851379	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.967000	0.03821	-1.503000	0.01812	-1.391000	0.01154	AGT		PASS	0.483	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			36	127	36	127	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143748276	143748276	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:143748276C>T	ENST00000408906.2	+	1	816	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A261V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATGTACATGGCCCCCAAGTCC	0.567																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(781-783)GCC>GTC		olfactory receptor, family 2, subfamily A,							95.0	94.0	94.0					7																	143748276		2004	4188	6192	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748276C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.782C>T	7.37:g.143748276C>T	ENSP00000386208:p.Ala261Val						p.A261V	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	782	+	Melanoma(164;0.0783)		261			Extracellular (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.782C>T	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652099	0.29336	.	.	ENSG00000221836	ENST00000408906	T	0.36157	1.27	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.574350	0.13015	U	0.420592	T	0.17238	0.0414	N	0.02368	-0.58	0.31155	N	0.705077	B	0.11235	0.004	B	0.17979	0.02	T	0.09357	-1.0678	10	0.23891	T	0.37	.	12.2068	0.54356	0.0:0.8289:0.1711:0.0	.	261	Q96R48	OR2A5_HUMAN	V	261	ENSP00000386208:A261V	ENSP00000386208:A261V	A	+	2	0	OR2A5	143379209	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.062000	0.14389	2.797000	0.96272	0.650000	0.86243	GCC		PASS	0.567	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			71	95	71	95	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150554701	150554701	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:150554701C>T	ENST00000493429.1	+	4	1727	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	AOC1_ENST00000360937.4_Silent_p.V381V|AOC1_ENST00000467291.1_Silent_p.V381V|AOC1_ENST00000416793.2_Silent_p.V381V			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	381					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.V381V(1)								Amiloride(DB00594)	TGGGCAGCGTCACTCATGAGT	0.607																																						uc003why.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(1141-1143)GTC>GTT		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						62.0	70.0	67.0					7																	150554701		2203	4297	6500	SO:0001819	synonymous_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554701C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1143C>T	7.37:g.150554701C>T						ABP1_uc003whz.1_Silent_p.V381V|ABP1_uc003wia.1_Silent_p.V381V	p.V381V	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5361	+	all_neural(206;0.219)		381					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1143C>T	CCDS43679.1																																																																																				PASS	0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		23	100	23	100	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150644067	150644067	+	Silent	SNP	G	G	A	rs41312087	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:150644067G>A	ENST00000262186.5	-	14	3629	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P	KCNH2_ENST00000330883.4_Silent_p.P736P|KCNH2_ENST00000392968.2_Silent_p.P980P	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1076					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.P1076P(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CACTGTAGGCGGGCGGGACCA	0.672																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(3226-3228)CCC>CCT		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	G	,	1,4403	2.1+/-5.4	0,1,2201	51.0	54.0	53.0		3228,2208	-9.8	0.4	7	dbSNP_127	53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KCNH2	NM_000238.3,NM_172057.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	1076/1160,736/820	150644067	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150644067G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3228C>T	7.37:g.150644067G>A						KCNH2_uc003wib.2_Silent_p.P736P|KCNH2_uc011kux.1_Silent_p.P980P	p.P1076P	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	3241	-	all_neural(206;0.219)		1076			Cytoplasmic (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.3228C>T	CCDS5910.1																																																																																				PASS	0.672	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		26	42	26	42	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150916197	150916197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr7:150916197G>A	ENST00000287844.2	-	8	1079	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.Q324*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	324	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.Q324*(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTTCATCTGGTTCTCCTCC	0.512																																						uc003wjp.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(970-972)CAG>TAG		ATP-binding cassette, sub-family F, member 2							219.0	191.0	201.0					7																	150916197		2203	4300	6503	SO:0001587	stop_gained	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150916197G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.970C>T	7.37:g.150916197G>A	ENSP00000287844:p.Gln324*					ABCF2_uc003wjo.1_Nonsense_Mutation_p.Q324*	p.Q324*	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1081	-			324			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Nonsense_Mutation	SNP	ENST00000287844.2	37	c.970C>T	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	38	6.926426	0.97940	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	.	.	.	5.03	5.03	0.67393	.	0.317333	0.34986	N	0.003536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.8834	15.9348	0.79694	0.0:0.0:1.0:0.0	.	.	.	.	X	324	.	ENSP00000222388:Q324X	Q	-	1	0	ABCF2	150547130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.258000	0.95555	2.496000	0.84212	0.563000	0.77884	CAG		PASS	0.512	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		42	218	42	218	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	4495076	4495076	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:4495076C>A	ENST00000520002.1	-	2	645	c.90G>T	c.(88-90)caG>caT	p.Q30H	CSMD1_ENST00000602557.1_Missense_Mutation_p.Q30H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q30H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q30H|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q30H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q30H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q30H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	30						integral component of membrane (GO:0016021)		p.Q30H(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)		CTCCACAGTTCTGACCTGGAA	0.408																																						uc011kwk.1																			1	Substitution - Missense(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(88-90)CAG>CAT		CUB and Sushi multiple domains 1 precursor							54.0	52.0	53.0					8																	4495076		1864	4111	5975	SO:0001583	missense	64478					integral to membrane		g.chr8:4495076C>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.90G>T	8.37:g.4495076C>A	ENSP00000430733:p.Gln30His						p.Q30H	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)	2	480	-		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)	30			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.90G>T		.	.	.	.	.	.	.	.	.	.	C	9.778	1.174559	0.21704	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.26373	1.74;1.85;1.88;1.74;2.19	5.32	2.5	0.30297	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.31003	N	0.72008	P	0.44578	0.838	B	0.41691	0.364	T	0.08186	-1.0734	9	0.59425	D	0.04	.	9.7161	0.40276	0.0:0.7604:0.0:0.2396	.	30	E5RIG2	.	H	30	ENSP00000383047:Q30H;ENSP00000430733:Q30H;ENSP00000441462:Q30H;ENSP00000446243:Q30H;ENSP00000441675:Q30H	ENSP00000383047:Q30H	Q	-	3	2	CSMD1	4482484	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	0.825000	0.27393	0.628000	0.30357	-0.225000	0.12378	CAG		PASS	0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	36	7	36	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957314	12957314	+	Silent	SNP	G	G	A	rs371738249		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:12957314G>A	ENST00000276297.4	-	9	2941	c.2532C>T	c.(2530-2532)caC>caT	p.H844H	DLC1_ENST00000358919.2_Silent_p.H407H|DLC1_ENST00000512044.2_Silent_p.H441H|DLC1_ENST00000520226.1_Silent_p.H333H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	844	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.H844H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCCAGGGCCGTGGAAGCTTC	0.572																																						uc003wwm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2530-2532)CAC>CAT		deleted in liver cancer 1 isoform 1							74.0	70.0	72.0					8																	12957314		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957314G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2532C>T	8.37:g.12957314G>A						DLC1_uc003wwk.1_Silent_p.H407H|DLC1_uc003wwl.1_Silent_p.H441H|DLC1_uc011kxx.1_Silent_p.H333H	p.H844H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2976	-			844					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2532C>T	CCDS5989.1																																																																																				PASS	0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		40	32	40	32	---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17415842	17415842	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:17415842G>T	ENST00000494857.1	+	9	1452	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y	SLC7A2_ENST00000004531.10_Missense_Mutation_p.D452Y|SLC7A2_ENST00000522656.1_Missense_Mutation_p.D412Y|SLC7A2_ENST00000398090.3_Missense_Mutation_p.D451Y|SLC7A2_ENST00000470360.1_Missense_Mutation_p.D451Y	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	412					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.D451Y(1)|p.D412Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCGCTTGTGGACATGATGTC	0.512																																						uc011kyc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1234-1236)GAC>TAC		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						211.0	171.0	184.0					8																	17415842		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17415842G>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1234G>T	8.37:g.17415842G>T	ENSP00000419140:p.Asp412Tyr					SLC7A2_uc011kyd.1_Missense_Mutation_p.D451Y|SLC7A2_uc011kye.1_Missense_Mutation_p.D452Y|SLC7A2_uc011kyf.1_Missense_Mutation_p.D412Y	p.D412Y	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1403	+			412			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1234G>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669712	0.88348	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.38	5.38	0.77491	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.959;0.987;1.0	D	0.97925	1.0317	10	0.72032	D	0.01	.	19.5227	0.95192	0.0:0.0:1.0:0.0	.	452;451;412	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	Y	412;412;451;452;451	ENSP00000419140:D412Y;ENSP00000430464:D412Y;ENSP00000419873:D451Y;ENSP00000004531:D452Y;ENSP00000381164:D451Y	ENSP00000004531:D452Y	D	+	1	0	SLC7A2	17460134	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.869000	0.99810	2.691000	0.91804	0.561000	0.74099	GAC		PASS	0.512	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		25	62	25	62	---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20112359	20112359	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:20112359G>C	ENST00000381569.1	-	2	691	c.334C>G	c.(334-336)Cag>Gag	p.Q112E	LZTS1_ENST00000522290.1_Missense_Mutation_p.Q112E|LZTS1_ENST00000265801.6_Missense_Mutation_p.Q112E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	112					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q112E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATTTCTAGCTGATTGGAGAAG	0.597																																						uc003wzr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)CAG>GAG		leucine zipper, putative tumor suppressor 1							28.0	31.0	30.0					8																	20112359		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112359G>C	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.334C>G	8.37:g.20112359G>C	ENSP00000370981:p.Gln112Glu					LZTS1_uc010ltg.1_Missense_Mutation_p.Q112E	p.Q112E	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	1	445	-			112					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.334C>G	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180305	0.78677	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.24538	2.19;2.19;1.85	6.02	6.02	0.97574	.	0.337566	0.33057	N	0.005340	T	0.30510	0.0767	N	0.19112	0.55	0.43039	D	0.994628	P;D	0.54207	0.955;0.965	P;P	0.52758	0.652;0.708	T	0.01386	-1.1368	10	0.42905	T	0.14	-46.3852	19.1011	0.93274	0.0:0.0:1.0:0.0	.	112;112	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	E	112	ENSP00000370981:Q112E;ENSP00000265801:Q112E;ENSP00000429263:Q112E	ENSP00000265801:Q112E	Q	-	1	0	LZTS1	20156639	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	5.555000	0.67301	2.857000	0.98124	0.650000	0.86243	CAG		PASS	0.597	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		5	32	5	32	---	---	---	---
SARAF	51669	broad.mit.edu	37	8	29927377	29927377	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:29927377A>T	ENST00000256255.6	-	3	738	c.481T>A	c.(481-483)Tat>Aat	p.Y161N	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		161					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.Y161N(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TTATAATAATAATCAGAGAAA	0.433																																						uc003xhs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)TAT>AAT		transmembrane protein 66 precursor							74.0	80.0	78.0					8																	29927377		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927377A>T																												ENST00000256255.6:c.481T>A	8.37:g.29927377A>T	ENSP00000256255:p.Tyr161Asn					TMEM66_uc003xht.2_Missense_Mutation_p.Y161N|TMEM66_uc003xhu.2_Missense_Mutation_p.Y125N|TMEM66_uc003xhv.2_5'UTR	p.Y161N	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	665	-			161					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.481T>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.35|12.35	1.910205|1.910205	0.33721|0.33721	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000518296|ENST00000256255;ENST00000541035;ENST00000523127;ENST00000522794	.|T;T	.|0.42513	.|0.97;0.98	5.83|5.83	3.45|3.45	0.39498|0.39498	.|.	.|0.975986	.|0.08458	.|N	.|0.942897	.|T	.|0.29976	.|0.0750	L|L	0.50919|0.50919	1.6|1.6	0.20873|0.20873	N|N	0.999837|0.999837	.|P;P	.|0.34934	.|0.476;0.476	.|B;B	.|0.29267	.|0.1;0.1	.|T	.|0.25187	.|-1.0139	.|10	.|0.20519	.|T	.|0.43	-11.8597|-11.8597	2.2|2.2	0.03921|0.03921	0.5906:0.1667:0.0833:0.1594|0.5906:0.1667:0.0833:0.1594	.|.	.|161;161	.|B3KQQ4;Q96BY9	.|.;TMM66_HUMAN	X|N	30|161;125;59;125	.|ENSP00000256255:Y161N;ENSP00000429630:Y125N	.|ENSP00000256255:Y161N	L|Y	-|-	2|1	0|0	TMEM66|TMEM66	30046919|30046919	0.033000|0.033000	0.19621|0.19621	0.574000|0.574000	0.28523|0.28523	0.621000|0.621000	0.37620|0.37620	1.809000|1.809000	0.38922|0.38922	1.015000|1.015000	0.39444|0.39444	0.477000|0.477000	0.44152|0.44152	TTA|TAT		PASS	0.433	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			34	63	34	63	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38189054	38189054	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:38189054C>A	ENST00000317025.8	-	5	1477	c.960G>T	c.(958-960)gcG>gcT	p.A320A	WHSC1L1_ENST00000316985.3_Silent_p.A320A|WHSC1L1_ENST00000433384.2_Silent_p.A320A|WHSC1L1_ENST00000527502.1_Silent_p.A320A	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	320	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.A320A(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CATGAACCCACGCCCTCTCTG	0.408			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(958-960)GCG>GCT		WHSC1L1 protein isoform long							82.0	75.0	78.0					8																	38189054		2203	4300	6503	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38189054C>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.960G>T	8.37:g.38189054C>A						WHSC1L1_uc011lbm.1_Silent_p.A320A|WHSC1L1_uc010lwe.2_Silent_p.A320A|WHSC1L1_uc003xlj.2_Silent_p.A320A	p.A320A	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		5	1478	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	320			PWWP 1.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.960G>T	CCDS43729.1																																																																																				PASS	0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		52	39	52	39	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55542501	55542501	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:55542501A>C	ENST00000220676.1	+	4	6207	c.6059A>C	c.(6058-6060)aAt>aCt	p.N2020T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2020					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.N2020T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAGAAGGTAATTTAAAGAAA	0.308																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(6058-6060)AAT>ACT		retinitis pigmentosa RP1 protein							76.0	82.0	80.0					8																	55542501		2202	4298	6500	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542501A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6059A>C	8.37:g.55542501A>C	ENSP00000220676:p.Asn2020Thr					RP1_uc011ldy.1_Intron	p.N2020T	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6207	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2020						Missense_Mutation	SNP	ENST00000220676.1	37	c.6059A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	6.711	0.499801	0.12762	.	.	ENSG00000104237	ENST00000220676	T	0.26067	1.76	5.71	4.52	0.55395	.	0.641285	0.14296	N	0.328587	T	0.25791	0.0628	M	0.64997	1.995	0.09310	N	1	P	0.38922	0.651	B	0.38428	0.273	T	0.34576	-0.9823	10	0.87932	D	0	.	4.7885	0.13236	0.6072:0.0:0.0792:0.3137	.	2020	P56715	RP1_HUMAN	T	2020	ENSP00000220676:N2020T	ENSP00000220676:N2020T	N	+	2	0	RP1	55705054	0.155000	0.22806	0.864000	0.33941	0.004000	0.04260	1.609000	0.36858	0.946000	0.37632	0.482000	0.46254	AAT		PASS	0.308	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		21	111	21	111	---	---	---	---
ARMC1	55156	broad.mit.edu	37	8	66525572	66525572	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:66525572C>T	ENST00000276569.3	-	4	616	c.372G>A	c.(370-372)atG>atA	p.M124I	ARMC1_ENST00000523384.1_Intron|ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	124					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.M124I(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GACGTGAATTCATCTCATTAA	0.398																																						uc003xvl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)ATG>ATA		armadillo repeat-containing protein							149.0	139.0	143.0					8																	66525572		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66525572C>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.372G>A	8.37:g.66525572C>T	ENSP00000276569:p.Met124Ile					ARMC1_uc011leo.1_Intron	p.M124I	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	607	-			124					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.372G>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522770	0.44866	.	.	ENSG00000104442	ENST00000276569;ENST00000518908	T;T	0.39592	1.07;1.07	6.02	5.14	0.70334	.	0.238814	0.56097	N	0.000028	T	0.40719	0.1128	L	0.51422	1.61	0.80722	D	1	B	0.19817	0.039	B	0.18263	0.021	T	0.16571	-1.0398	10	0.35671	T	0.21	.	16.8946	0.86097	0.1289:0.8711:0.0:0.0	.	124	Q9NVT9	ARMC1_HUMAN	I	124	ENSP00000276569:M124I;ENSP00000429191:M124I	ENSP00000276569:M124I	M	-	3	0	ARMC1	66688126	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.060000	0.30530	1.535000	0.49220	0.655000	0.94253	ATG		PASS	0.398	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		36	134	36	134	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68049816	68049816	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:68049816G>T	ENST00000262210.5	+	15	1969	c.1938G>T	c.(1936-1938)agG>agT	p.R646S	CSPP1_ENST00000412460.1_Missense_Mutation_p.R352S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	681					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.R646S(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)			CTCCTCTCAGGGATGCAAAAG	0.328																																						uc003xxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2041-2043)AGG>AGT		centrosome spindle pole associated protein 1							103.0	101.0	101.0					8																	68049816		1837	4086	5923	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68049816G>T	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.1938G>T	8.37:g.68049816G>T	ENSP00000262210:p.Arg646Ser					CSPP1_uc003xxg.1_Missense_Mutation_p.R673S|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R646S|CSPP1_uc003xxk.2_Missense_Mutation_p.R352S	p.R681S	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)		17	2074	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	681					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2043G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189207	0.57909	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	D;D;D	0.81579	-1.51;-1.51;-1.51	5.36	-3.94	0.04130	.	0.077966	0.53938	D	0.000044	T	0.82245	0.4995	M	0.61703	1.905	0.40364	D	0.979279	P;D;P;D	0.61697	0.51;0.99;0.928;0.959	B;P;P;P	0.56278	0.154;0.795;0.564;0.564	T	0.82633	-0.0361	10	0.56958	D	0.05	-8.8395	14.0487	0.64722	0.8378:0.0:0.1622:0.0	.	352;646;681;681	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	S	646;681;352;352	ENSP00000262210:R646S;ENSP00000415782:R352S;ENSP00000430092:R352S	ENSP00000262210:R646S	R	+	3	2	CSPP1	68212370	0.999000	0.42202	0.889000	0.34880	0.969000	0.65631	0.600000	0.24104	-0.585000	0.05905	0.460000	0.39030	AGG		PASS	0.328	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		11	22	11	22	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616580	77616580	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:77616580C>T	ENST00000521891.2	+	2	705	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A86V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A86V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A86V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A86V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGAATGTGCCACTTCTTTT	0.507										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(256-258)GCC>GTC		zinc finger homeodomain 4							179.0	178.0	178.0					8																	77616580		2083	4210	6293	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616580C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.257C>T	8.37:g.77616580C>T	ENSP00000430497:p.Ala86Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.A86V|ZFHX4_uc003yau.1_Missense_Mutation_p.A86V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A86V	p.A86V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	644	+			86					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.257C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384779	0.61956	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.000000	0.44097	U	0.000482	T	0.42449	0.1203	N	0.14661	0.345	0.58432	D	0.999995	D;D;D;P	0.61697	0.982;0.972;0.99;0.822	P;P;P;B	0.59825	0.734;0.691;0.864;0.269	T	0.44345	-0.9334	10	0.66056	D	0.02	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	86;86;86;86	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	86	ENSP00000430497:A86V;ENSP00000399605:A86V;ENSP00000050961:A86V;ENSP00000428525:A86V;ENSP00000429495:A86V;ENSP00000427775:A86V;ENSP00000427739:A86V;ENSP00000430848:A86V	ENSP00000050961:A86V	A	+	2	0	ZFHX4	77779135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	2.882000	0.98803	0.655000	0.94253	GCC		PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		30	168	30	168	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	87917320	87917320	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:87917320G>A	ENST00000518476.1	+	3	221	c.170G>A	c.(169-171)aGc>aAc	p.S57N		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	57								p.S57N(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CGGAGTATGAGCAATATCTTA	0.333																																						uc003ydy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(169-171)AGC>AAC		cyclic nucleotide binding domain containing 1							75.0	67.0	69.0					8																	87917320		1843	4099	5942	SO:0001583	missense	168975							g.chr8:87917320G>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.170G>A	8.37:g.87917320G>A	ENSP00000430073:p.Ser57Asn						p.S57N	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			3	218	+			57						Missense_Mutation	SNP	ENST00000518476.1	37	c.170G>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	6.669	0.491900	0.12702	.	.	ENSG00000176571	ENST00000518476	T	0.18960	2.18	3.91	-5.66	0.02451	.	2.440300	0.01312	N	0.010671	T	0.13072	0.0317	L	0.47716	1.5	0.09310	N	1	B	0.33073	0.396	B	0.26310	0.068	T	0.14448	-1.0472	10	0.17369	T	0.5	.	2.0668	0.03605	0.4921:0.1837:0.1969:0.1272	.	57	Q8NA66	CNBD1_HUMAN	N	57	ENSP00000430073:S57N	ENSP00000430073:S57N	S	+	2	0	CNBD1	87986436	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.539000	0.00937	-1.150000	0.02840	-0.262000	0.10625	AGC		PASS	0.333	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		5	17	5	17	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100821701	100821701	+	Missense_Mutation	SNP	G	G	T	rs145899918		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:100821701G>T	ENST00000358544.2	+	44	8226	c.8115G>T	c.(8113-8115)agG>agT	p.R2705S	VPS13B_ENST00000357162.2_Missense_Mutation_p.R2680S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2705					protein transport (GO:0015031)			p.R2680S(1)|p.R2705S(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCAGTACAGGGGTCGAACTG	0.438																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8113-8115)AGG>AGT		vacuolar protein sorting 13B isoform 5							108.0	104.0	105.0					8																	100821701		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100821701G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8115G>T	8.37:g.100821701G>T	ENSP00000351346:p.Arg2705Ser					VPS13B_uc003yiw.2_Missense_Mutation_p.R2680S	p.R2705S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		44	8226	+	Breast(36;3.73e-07)		2705					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8115G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663540	0.29515	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69435	-0.39;-0.4	5.63	3.8	0.43715	Vacuolar protein sorting-associated protein (1);	0.112684	0.56097	D	0.000028	T	0.48114	0.1482	N	0.14661	0.345	0.80722	D	1	B;B	0.19200	0.034;0.019	B;B	0.21151	0.033;0.014	T	0.49542	-0.8929	10	0.72032	D	0.01	.	9.6757	0.40039	0.2129:0.0:0.7871:0.0	.	2680;2705	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	2680;2705	ENSP00000349685:R2680S;ENSP00000351346:R2705S	ENSP00000349685:R2680S	R	+	3	2	VPS13B	100890877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.216000	0.32443	1.490000	0.48466	0.643000	0.83706	AGG		PASS	0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		48	99	48	99	---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103664217	103664217	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:103664217A>C	ENST00000285407.6	-	3	643	c.343T>G	c.(343-345)Tct>Gct	p.S115A	KLF10_ENST00000395884.3_Missense_Mutation_p.S104A	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	115					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|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)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S115A(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTACAGTAGATGGCGCTGGT	0.463											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)TCT>GCT		Kruppel-like factor 10 isoform a							68.0	74.0	72.0					8																	103664217		2203	4299	6502	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664217A>C	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.343T>G	8.37:g.103664217A>C	ENSP00000285407:p.Ser115Ala		OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1375	KLF10_uc011lhj.1_Missense_Mutation_p.S104A	p.S115A	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	497	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		115					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.343T>G	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251946	0.22880	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.12465	2.68;2.74	6.02	-0.698	0.11280	.	0.417296	0.25593	N	0.029601	T	0.07279	0.0184	L	0.27053	0.805	0.24399	N	0.994713	B;B	0.14012	0.009;0.002	B;B	0.14023	0.01;0.006	T	0.33777	-0.9855	10	0.23302	T	0.38	.	5.894	0.18929	0.4514:0.0:0.4156:0.133	.	115;104	Q13118;O75411	KLF10_HUMAN;.	A	115;104	ENSP00000285407:S115A;ENSP00000379222:S104A	ENSP00000285407:S115A	S	-	1	0	KLF10	103733393	0.994000	0.37717	0.992000	0.48379	0.986000	0.74619	0.190000	0.17057	-0.325000	0.08577	0.533000	0.62120	TCT		PASS	0.463	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			48	85	48	85	---	---	---	---
EIF3H	8667	broad.mit.edu	37	8	117669519	117669519	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:117669519T>C	ENST00000276682.4	-	6	1300	c.534A>G	c.(532-534)ctA>ctG	p.L178L	EIF3H_ENST00000521861.1_Silent_p.L164L					eukaryotic translation initiation factor 3, subunit H									p.L164L(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TGTATGCCTTTAGTGAGAGAG	0.413																																						uc003yoa.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)	3						c.(490-492)CTA>CTG		eukaryotic translation initiation factor 3,							96.0	95.0	96.0					8																	117669519		2203	4300	6503	SO:0001819	synonymous_variant	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117669519T>C	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.534A>G	8.37:g.117669519T>C						EIF3H_uc003yob.2_Silent_p.L178L	p.L164L	NM_003756	NP_003747	O15372	EIF3H_HUMAN			4	518	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		164						Silent	SNP	ENST00000276682.4	37	c.492A>G																																																																																					PASS	0.413	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		42	77	42	77	---	---	---	---
TG	7038	broad.mit.edu	37	8	133925455	133925455	+	Silent	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:133925455G>C	ENST00000220616.4	+	20	4363	c.4323G>C	c.(4321-4323)tcG>tcC	p.S1441S	TG_ENST00000377869.1_Silent_p.S1441S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1441					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S1441S(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGGGTGCTCGGAAGGATTCT	0.567																																						uc003ytw.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(4321-4323)TCG>TCC		thyroglobulin precursor							102.0	85.0	91.0					8																	133925455		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925455G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4323G>C	8.37:g.133925455G>C						TG_uc010mdw.2_Silent_p.S200S	p.S1441S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4364	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1441					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4323G>C	CCDS34944.1																																																																																				PASS	0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		14	98	14	98	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139149433	139149433	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:139149433G>T	ENST00000395297.1	-	19	4142	c.3972C>A	c.(3970-3972)gcC>gcA	p.A1324A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1324								p.A1324A(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTCAATCCTGGCTGAATGAA	0.388										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(3970-3972)GCC>GCA		hypothetical protein LOC51059							160.0	158.0	159.0					8																	139149433		1878	4112	5990	SO:0001819	synonymous_variant	51059							g.chr8:139149433G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3972C>A	8.37:g.139149433G>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.A1225A|FAM135B_uc003yuz.2_RNA	p.A1324A	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		19	4143	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1324					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3972C>A	CCDS6375.2																																																																																				PASS	0.388	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		28	81	28	81	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139190828	139190828	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:139190828G>T	ENST00000395297.1	-	10	1149	c.979C>A	c.(979-981)Ctg>Atg	p.L327M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	327								p.L327M(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGGAGTGCAGAGTGACTGTG	0.517										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(979-981)CTG>ATG		hypothetical protein LOC51059							129.0	128.0	129.0					8																	139190828		2038	4209	6247	SO:0001583	missense	51059							g.chr8:139190828G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.979C>A	8.37:g.139190828G>T	ENSP00000378710:p.Leu327Met	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L228M|FAM135B_uc003yuz.2_RNA	p.L327M	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1150	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		327					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.979C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409069	0.42715	.	.	ENSG00000147724	ENST00000395297	D	0.88818	-2.43	5.26	3.47	0.39725	.	0.082793	0.49305	D	0.000143	D	0.92694	0.7678	M	0.71581	2.175	0.37864	D	0.929819	D	0.89917	1.0	D	0.97110	1.0	D	0.92477	0.5990	10	0.52906	T	0.07	-10.5221	10.0187	0.42029	0.167:0.0:0.833:0.0	.	327	Q49AJ0	F135B_HUMAN	M	327	ENSP00000378710:L327M	ENSP00000276737:L327M	L	-	1	2	FAM135B	139260010	0.997000	0.39634	0.179000	0.23059	0.373000	0.29922	2.658000	0.46733	0.712000	0.32039	0.561000	0.74099	CTG		PASS	0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		29	78	29	78	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139603721	139603721	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:139603721G>T	ENST00000303045.6	-	64	5085	c.4639C>A	c.(4639-4641)Cca>Aca	p.P1547T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1527T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1547	Collagen-like 15.|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.P1547T(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)			GGTGCACCTGGGTCACCTTTG	0.602										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4639-4641)CCA>ACA		collagen, type XXII, alpha 1							63.0	57.0	59.0					8																	139603721		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139603721G>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.4639C>A	8.37:g.139603721G>T	ENSP00000303153:p.Pro1547Thr	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P827T	p.P1547T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		64	5086	-	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)		1547			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4639C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564452	0.45694	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94092	-3.35;-3.35	5.3	5.3	0.74995	.	0.466924	0.17676	N	0.165789	D	0.91324	0.7264	L	0.31845	0.965	0.25952	N	0.982734	B;D	0.53312	0.198;0.959	P;P	0.50860	0.502;0.652	D	0.85222	0.1027	10	0.40728	T	0.16	.	11.5185	0.50536	0.0:0.0:0.7248:0.2752	.	1527;1547	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	1547;1527;1240	ENSP00000303153:P1547T;ENSP00000387655:P1527T	ENSP00000303153:P1547T	P	-	1	0	COL22A1	139672903	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	3.243000	0.51392	2.756000	0.94617	0.563000	0.77884	CCA		PASS	0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	32	6	32	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139825186	139825186	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:139825186C>T	ENST00000303045.6	-	8	1768	c.1322G>A	c.(1321-1323)gGt>gAt	p.G441D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G441D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	441					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G441D(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)			GCTCACCGGACCCGAGGGGAT	0.537										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1321-1323)GGT>GAT		collagen, type XXII, alpha 1							134.0	109.0	118.0					8																	139825186		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139825186C>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.1322G>A	8.37:g.139825186C>T	ENSP00000303153:p.Gly441Asp	HNSCC(7;0.00092)					p.G441D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		8	1769	-	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)		441					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1322G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192699	0.78902	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88818	-2.43;-2.35	4.72	4.72	0.59763	.	0.000000	0.42964	U	0.000640	D	0.91908	0.7438	L	0.49126	1.545	0.58432	D	0.999991	D	0.76494	0.999	D	0.71414	0.973	D	0.91274	0.5046	9	.	.	.	.	14.8862	0.70570	0.0:1.0:0.0:0.0	.	441	Q8NFW1	COMA1_HUMAN	D	441	ENSP00000303153:G441D;ENSP00000387655:G441D	.	G	-	2	0	COL22A1	139894368	1.000000	0.71417	0.895000	0.35142	0.960000	0.62799	5.550000	0.67268	2.203000	0.70933	0.460000	0.39030	GGT		PASS	0.537	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		20	79	20	79	---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144809619	144809619	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:144809619C>A	ENST00000388913.3	-	5	2137	c.2012G>T	c.(2011-2013)cGc>cTc	p.R671L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	671					biomineral tissue development (GO:0031214)			p.R671L(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGTTCAGGCGCGAGCGGAA	0.741																																						uc003yzk.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2011-2013)CGC>CTC		FAM83H							4.0	5.0	5.0					8																	144809619		1545	3405	4950	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144809619C>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2012G>T	8.37:g.144809619C>A	ENSP00000373565:p.Arg671Leu					FAM83H_uc010mfk.1_RNA	p.R671L	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2081	-	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)		671					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2012G>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	19.51	3.840616	0.71488	.	.	ENSG00000180921	ENST00000388913	T	0.34275	1.37	3.96	3.96	0.45880	.	.	.	.	.	T	0.48150	0.1484	L	0.34521	1.04	0.39462	D	0.967589	D	0.89917	1.0	D	0.70016	0.967	T	0.55134	-0.8188	9	0.72032	D	0.01	.	15.185	0.72993	0.0:1.0:0.0:0.0	.	671	Q6ZRV2	FA83H_HUMAN	L	671	ENSP00000373565:R671L	ENSP00000373565:R671L	R	-	2	0	FAM83H	144881607	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.189000	0.77747	2.044000	0.60594	0.561000	0.74099	CGC		PASS	0.741	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		3	8	3	8	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145659530	145659530	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr8:145659530C>A	ENST00000409379.3	-	21	3247	c.3218G>T	c.(3217-3219)cGg>cTg	p.R1073L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1073					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.R914L(1)|p.R1073L(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCGCAGCTCCCGGAGTGCTGT	0.697																																						uc011llg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3217-3219)CGG>CTG		NF-kappa-B inhibitor-like protein 2							18.0	21.0	20.0					8																	145659530		2197	4295	6492	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659530C>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3218G>T	8.37:g.145659530C>A	ENSP00000386239:p.Arg1073Leu					uc011llh.1_5'Flank	p.R1073L	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		21	3233	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1073			LRR 1.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3218G>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001337	0.74818	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.54279	0.58	5.08	5.08	0.68730	.	0.110120	0.49305	D	0.000144	T	0.61160	0.2325	L	0.41824	1.3	0.46279	D	0.998962	D	0.65815	0.995	P	0.59357	0.856	T	0.63924	-0.6527	10	0.62326	D	0.03	-36.778	15.9642	0.79952	0.0:1.0:0.0:0.0	.	1073	Q96HA7	TONSL_HUMAN	L	1073;1072	ENSP00000386239:R1073L	ENSP00000386239:R1073L	R	-	2	0	TONSL	145630338	1.000000	0.71417	0.987000	0.45799	0.716000	0.41182	2.929000	0.48916	2.368000	0.80403	0.462000	0.41574	CGG		PASS	0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		11	17	11	17	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413751	20413751	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:20413751C>G	ENST00000380338.4	-	5	1379	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Missense_Mutation_p.D362H|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	365					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.D365H(1)		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)		TCCTCCACATCTGAATCATTG	0.358			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1093-1095)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia							122.0	109.0	113.0					9																	20413751		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413751C>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.1093G>C	9.37:g.20413751C>G	ENSP00000369695:p.Asp365His					MLLT3_uc011lne.1_Missense_Mutation_p.D333H|MLLT3_uc011lnf.1_Missense_Mutation_p.D362H|MLLT3_uc003zof.2_Missense_Mutation_p.D166H	p.D365H	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	1352	-			365					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.1093G>C	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187329	0.78789	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.95	5.95	0.96441	.	0.106801	0.64402	D	0.000003	T	0.78130	0.4235	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.77384	-0.2608	9	0.62326	D	0.03	-13.2286	20.3802	0.98930	0.0:1.0:0.0:0.0	.	362;365	B7Z755;P42568	.;AF9_HUMAN	H	365;362;404	.	ENSP00000369695:D365H	D	-	1	0	MLLT3	20403751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.822000	0.97130	0.563000	0.77884	GAT		PASS	0.358	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		49	59	49	59	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949218	27949218	+	Silent	SNP	G	G	T	rs150860330		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:27949218G>T	ENST00000379992.2	-	6	1901	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	LINGO2_ENST00000308675.3_Silent_p.I484I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	484	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.I484I(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATTGCTAGCGATGCAAACAT	0.493																																						uc003zqu.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1450-1452)ATC>ATA		leucine rich repeat and Ig domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	100.0	95.0	97.0		1452	-6.5	0.4	9	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	LINGO2	NM_152570.1		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		484/607	27949218	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27949218G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1452C>A	9.37:g.27949218G>T						LINGO2_uc010mjf.1_Silent_p.I484I|LINGO2_uc003zqv.1_Silent_p.I484I	p.I484I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1646	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	484			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.1452C>A	CCDS6524.1																																																																																				PASS	0.493	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		27	36	27	36	---	---	---	---
PRKACG	5568	broad.mit.edu	37	9	71628641	71628641	+	Missense_Mutation	SNP	T	T	C	rs145926335		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:71628641T>C	ENST00000377276.2	-	1	398	c.368A>G	c.(367-369)tAc>tGc	p.Y123C		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.Y123C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCCGGCACGTACTCCATCAC	0.592																																					Esophageal Squamous(110;2236 2623 32146)	uc004agy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(367-369)TAC>TGC		protein kinase, cAMP-dependent, catalytic,		T	CYS/TYR	0,4406		0,0,2203	135.0	101.0	112.0		368	0.2	0.0	9	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRKACG	NM_002732.3	194	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging	123/352	71628641	2,13004	2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628641T>C	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.368A>G	9.37:g.71628641T>C	ENSP00000366488:p.Tyr123Cys						p.Y123C	NM_002732	NP_002723	P22612	KAPCG_HUMAN			1	399	-			123			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.368A>G	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357625	0.41801	0.0	2.33E-4	ENSG00000165059	ENST00000377276	T	0.11930	2.73	1.61	0.194	0.15143	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	0.28921	U	0.013704	T	0.33614	0.0869	M	0.87682	2.9	0.30249	N	0.794288	D	0.89917	1.0	D	0.81914	0.995	T	0.21075	-1.0256	10	0.87932	D	0	.	4.7759	0.13178	0.2753:0.0:0.0:0.7247	.	123	P22612	KAPCG_HUMAN	C	123	ENSP00000366488:Y123C	ENSP00000366488:Y123C	Y	-	2	0	PRKACG	70818461	0.942000	0.31987	0.000000	0.03702	0.001000	0.01503	1.629000	0.37071	-0.128000	0.11641	0.460000	0.39030	TAC		PASS	0.592	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			28	72	28	72	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74842916	74842916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:74842916C>T	ENST00000358399.3	+	9	973	c.880C>T	c.(880-882)Cga>Tga	p.R294*	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Nonsense_Mutation_p.R220*|GDA_ENST00000376989.3_Nonsense_Mutation_p.R233*|GDA_ENST00000238018.4_Nonsense_Mutation_p.R294*|GDA_ENST00000376986.1_Nonsense_Mutation_p.R216*	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	294					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.R294*(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTCCATGAACGAGGAGCATC	0.458																																						uc004aiq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(880-882)CGA>TGA		guanine deaminase							137.0	106.0	116.0					9																	74842916		2203	4300	6503	SO:0001587	stop_gained	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74842916C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.880C>T	9.37:g.74842916C>T	ENSP00000351170:p.Arg294*					GDA_uc011lse.1_Nonsense_Mutation_p.R220*|GDA_uc011lsf.1_Nonsense_Mutation_p.R220*|GDA_uc004air.2_Nonsense_Mutation_p.R294*|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Nonsense_Mutation_p.R216*|GDA_uc004ait.1_Nonsense_Mutation_p.R220*	p.R294*	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	9	1063	+		Myeloproliferative disorder(762;0.0122)	294					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Nonsense_Mutation	SNP	ENST00000358399.3	37	c.880C>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	41	8.926475	0.99006	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671;ENST00000436438	.	.	.	5.51	5.51	0.81932	.	0.231037	0.44285	D	0.000477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2043	12.2898	0.54812	0.1691:0.8309:0.0:0.0	.	.	.	.	X	220;294;233;216;294;160;2	.	ENSP00000238018:R294X	R	+	1	2	GDA	74032736	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.628000	0.46477	2.736000	0.93811	0.655000	0.94253	CGA		PASS	0.458	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			22	36	22	36	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90503242	90503242	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:90503242C>A	ENST00000325643.5	+	4	3906	c.3840C>A	c.(3838-3840)ggC>ggA	p.G1280G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1280					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G1280G(1)									GGAAAGGAGGCACACGGTGGG	0.567																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3838-3840)GGC>GGA		chromosome 9 open reading frame 79							78.0	73.0	75.0					9																	90503242		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90503242C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3840C>A	9.37:g.90503242C>A							p.G1280G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3875	+			1280					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.3840C>A	CCDS6676.1																																																																																				PASS	0.567	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		47	88	47	88	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172985	94172985	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:94172985T>A	ENST00000297689.3	-	2	426	c.32A>T	c.(31-33)aAg>aTg	p.K11M		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	11					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K11M(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CGCCTGCTCCTTTTTGACGGT	0.438																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)AAG>ATG		nuclear factor, interleukin 3 regulated							82.0	83.0	83.0					9																	94172985		2203	4300	6503	SO:0001583	missense	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172985T>A	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.32A>T	9.37:g.94172985T>A	ENSP00000297689:p.Lys11Met						p.K11M	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	427	-			11					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.32A>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473467	0.63737	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.89	3.76	0.43208	.	0.137926	0.46758	D	0.000279	T	0.38108	0.1028	L	0.32530	0.975	0.42816	D	0.993979	D	0.54047	0.964	P	0.47206	0.541	T	0.31280	-0.9949	9	0.87932	D	0	-29.7359	4.8607	0.13583	0.0:0.1606:0.1598:0.6795	.	11	Q16649	NFIL3_HUMAN	M	11	.	ENSP00000297689:K11M	K	-	2	0	NFIL3	93212806	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.159000	0.50731	1.016000	0.39470	0.459000	0.35465	AAG		PASS	0.438	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		67	133	67	133	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104297792	104297792	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:104297792G>A	ENST00000389120.3	+	2	177	c.87G>A	c.(85-87)ggG>ggA	p.G29G	TMEM246_ENST00000374851.1_5'Flank|RNF20_ENST00000481046.1_3'UTR|TMEM246_ENST00000482920.1_5'Flank	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	29					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.G29G(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)		AAGATTCAGGGACCACAGTGG	0.463																																						uc004bbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(85-87)GGG>GGA		ring finger protein 20							69.0	66.0	67.0					9																	104297792		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.chr9:104297792G>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.87G>A	9.37:g.104297792G>A							p.G29G	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	2	177	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	29					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.87G>A	CCDS35084.1																																																																																				PASS	0.463	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		27	27	27	27	---	---	---	---
PRDM12	59335	broad.mit.edu	37	9	133542181	133542181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:133542181G>A	ENST00000253008.2	+	2	470	c.410G>A	c.(409-411)tGg>tAg	p.W137*		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	137	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.W137*(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		AACCTCATGTGGGAGGTACGC	0.706																																						uc004bzt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(409-411)TGG>TAG		PR domain containing 12							44.0	49.0	48.0					9																	133542181		2203	4300	6503	SO:0001587	stop_gained	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133542181G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.410G>A	9.37:g.133542181G>A	ENSP00000253008:p.Trp137*						p.W137*	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	470	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	137			SET.		A3KFK9	Nonsense_Mutation	SNP	ENST00000253008.2	37	c.410G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	36	5.960358	0.97145	.	.	ENSG00000130711	ENST00000253008	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.063	17.9465	0.89040	0.0:0.0:1.0:0.0	.	.	.	.	X	137	.	ENSP00000253008:W137X	W	+	2	0	PRDM12	132532002	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	9.217000	0.95160	2.483000	0.83821	0.491000	0.48974	TGG		PASS	0.706	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		41	55	41	55	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133750280	133750280	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:133750280G>T	ENST00000318560.5	+	7	1492	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.V371L(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AAACTGCCTGGTAGGGGAGAA	0.522			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2				Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		2	Substitution - Missense(1)|Unknown(1)	p.V371A(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(1111-1113)GTA>TTA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						156.0	140.0	145.0					9																	133750280		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133750280G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1111G>T	9.37:g.133750280G>T	ENSP00000323315:p.Val371Leu					ABL1_uc004bzv.2_Missense_Mutation_p.V390L	p.V371L	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	7	1114	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	371			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1111G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601883	0.96614	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.55413	0.52;0.52	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.128495	0.51477	D	0.000095	T	0.52025	0.1709	N	0.17248	0.465	0.80722	D	1	P;P	0.50272	0.933;0.933	P;P	0.53185	0.72;0.72	T	0.59473	-0.7448	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	371;408	P00519;Q59FK4	ABL1_HUMAN;.	L	186;390;371	ENSP00000361423:V390L;ENSP00000323315:V371L	ENSP00000323315:V371L	V	+	1	0	ABL1	132740101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.858000	0.99539	2.450000	0.82876	0.655000	0.94253	GTA		PASS	0.522	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		52	96	52	96	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135251316	135251316	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:135251316G>A	ENST00000334270.2	-	11	2743	c.2704C>T	c.(2704-2706)Cgg>Tgg	p.R902W	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	902					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R902W(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		atgatccaccggccttggcct	0.507																																						uc004cbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2704-2706)CGG>TGG		transcription termination factor, RNA polymerase							34.0	33.0	34.0					9																	135251316		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251316G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2704C>T	9.37:g.135251316G>A	ENSP00000333920:p.Arg902Trp					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R387W	p.R902W	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2756	-		Myeloproliferative disorder(178;0.204)	902					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2704C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	g	10.82	1.458901	0.26248	.	.	ENSG00000125482	ENST00000334270	T	0.12774	2.65	0.943	-0.141	0.13452	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	P	0.50066	0.931	B	0.28465	0.09	T	0.36311	-0.9753	9	0.87932	D	0	.	3.9649	0.09426	0.0:0.0:0.5876:0.4124	.	902	Q15361	TTF1_HUMAN	W	902	ENSP00000333920:R902W	ENSP00000333920:R902W	R	-	1	2	TTF1	134241137	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.727000	0.04931	-0.052000	0.13311	-0.532000	0.04303	CGG		PASS	0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		12	13	12	13	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135772037	135772037	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:135772037C>T	ENST00000298552.3	-	23	3301	c.3080G>A	c.(3079-3081)cGg>cAg	p.R1027Q	TSC1_ENST00000545250.1_Missense_Mutation_p.R976Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R1027Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1027					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.R1027Q(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)		ACTACTGCCCCGGGCGCTGCT	0.612			"""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			2	Substitution - Missense(1)|Unknown(1)	p.?(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						c.(3079-3081)CGG>CAG		tuberous sclerosis 1 protein isoform 1							25.0	31.0	29.0					9																	135772037		2201	4296	6497	SO:0001583	missense	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.chr9:135772037C>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.3080G>A	9.37:g.135772037C>T	ENSP00000298552:p.Arg1027Gln					TSC1_uc004ccb.3_Missense_Mutation_p.R1026Q|TSC1_uc011mcq.1_Missense_Mutation_p.R976Q|TSC1_uc011mcr.1_Missense_Mutation_p.G220R	p.R1027Q	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3314	-			1027					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.3080G>A	CCDS6956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.563237|3.563237	0.65538|0.65538	.|.	.|.	ENSG00000165699|ENSG00000165699	ENST00000537172|ENST00000298552;ENST00000440111;ENST00000545250	D|D;D;T	0.88431|0.81659	-2.38|-1.52;-1.52;-1.33	5.41|5.41	4.48|4.48	0.54585|0.54585	.|.	.|0.575834	.|0.18573	.|N	.|0.137299	D|D	0.86360|0.86360	0.5914|0.5914	M|M	0.68952|0.68952	2.095|2.095	0.23478|0.23478	N|N	0.997593|0.997593	P|D;D	0.47253|0.76494	0.892|0.999;0.999	B|D;P	0.39068|0.72625	0.289|0.978;0.715	T|T	0.76602|0.76602	-0.2899|-0.2899	9|10	0.44086|0.14656	T|T	0.13|0.56	-9.3287|-9.3287	13.6811|13.6811	0.62487|0.62487	0.0:0.8466:0.1534:0.0|0.0:0.8466:0.1534:0.0	.|.	220|976;1027	B7Z604|B7Z897;Q92574	.|.;TSC1_HUMAN	R|Q	220|1027;1027;976	ENSP00000438099:G220R|ENSP00000298552:R1027Q;ENSP00000394524:R1027Q;ENSP00000444017:R976Q	ENSP00000438099:G220R|ENSP00000298552:R1027Q	G|R	-|-	1|2	0|0	TSC1|TSC1	134761858|134761858	0.952000|0.952000	0.32445|0.32445	0.651000|0.651000	0.29564|0.29564	0.768000|0.768000	0.43524|0.43524	1.980000|1.980000	0.40618|0.40618	2.533000|2.533000	0.85409|0.85409	0.563000|0.563000	0.77884|0.77884	GGG|CGG		PASS	0.612	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			17	35	17	35	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136234199	136234199	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr9:136234199G>A	ENST00000371989.3	-	2	300	c.171C>T	c.(169-171)acC>acT	p.T57T	SURF4_ENST00000545297.1_Silent_p.T57T|SURF4_ENST00000485435.2_Silent_p.T57T|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Silent_p.T57T	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	57					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T57T(1)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		AGTTCCAGGTGGTGTCGATGT	0.617																																						uc004cdj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(169-171)ACC>ACT		surfeit 4							114.0	90.0	99.0					9																	136234199		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234199G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.171C>T	9.37:g.136234199G>A						SURF4_uc011mda.1_Silent_p.T48T|SURF4_uc010nal.2_Silent_p.T89T|SURF4_uc011mdb.1_Silent_p.T14T|SURF4_uc011mdc.1_Silent_p.T14T|SURF4_uc011mdd.1_Silent_p.T57T	p.T57T	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	301	-			57					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.171C>T	CCDS6968.1																																																																																				PASS	0.617	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		14	47	14	47	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1061748	1061748	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:1061748G>A	ENST00000360803.4	+	16	1746	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	GTPBP4_ENST00000538293.1_Missense_Mutation_p.R439Q|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R508Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	555					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R555Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AAAAGAAAGCGGGAAGACTCT	0.577																																						uc001ift.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1663-1665)CGG>CAG		G protein-binding protein CRFG							123.0	112.0	116.0					10																	1061748		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1061748G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1664G>A	10.37:g.1061748G>A	ENSP00000354040:p.Arg555Gln					GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R439Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R508Q	p.R555Q	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	16	1735	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	555					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1664G>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025076	0.75390	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.33216	1.42;1.42;1.42	5.67	5.67	0.87782	.	0.050135	0.85682	N	0.000000	T	0.39835	0.1093	M	0.83953	2.67	0.80722	D	1	B	0.23806	0.091	B	0.17098	0.017	T	0.39375	-0.9617	10	0.14656	T	0.56	-15.665	19.7591	0.96306	0.0:0.0:1.0:0.0	.	555	Q9BZE4	NOG1_HUMAN	Q	555;439;508	ENSP00000354040:R555Q;ENSP00000444277:R439Q;ENSP00000445473:R508Q	ENSP00000354040:R555Q	R	+	2	0	GTPBP4	1051748	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.991000	0.88244	2.671000	0.90904	0.591000	0.81541	CGG		PASS	0.577	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		36	154	36	154	---	---	---	---
WAC	51322	broad.mit.edu	37	10	28900818	28900818	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:28900818G>A	ENST00000354911.4	+	10	1565	c.1404G>A	c.(1402-1404)ttG>ttA	p.L468L	WAC_ENST00000347934.4_Silent_p.L365L|WAC_ENST00000375664.4_Silent_p.L423L|WAC_ENST00000375646.1_Silent_p.L316L	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	468					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.L468L(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCAAACCTTTGATCAGTACTC	0.398																																						uc001iuf.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1402-1404)TTG>TTA		WW domain-containing adapter with a coiled-coil							152.0	126.0	135.0					10																	28900818		2203	4300	6503	SO:0001819	synonymous_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28900818G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1404G>A	10.37:g.28900818G>A						WAC_uc001iud.2_Silent_p.L423L|WAC_uc001iue.2_Silent_p.L158L|WAC_uc001iug.2_Silent_p.L365L|WAC_uc001iuh.2_Silent_p.L420L	p.L468L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			10	1489	+			468					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.1404G>A	CCDS7159.1																																																																																				PASS	0.398	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		80	116	80	116	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31803581	31803581	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:31803581T>C	ENST00000320985.10	+	6	845	c.735T>C	c.(733-735)tgT>tgC	p.C245C	ZEB1_ENST00000542815.3_Silent_p.C178C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Silent_p.C229C|ZEB1_ENST00000560721.2_Silent_p.C225C|ZEB1_ENST00000361642.5_Silent_p.C246C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	245					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C245C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCACTGAGTGTGGAAAAGCTT	0.328																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(733-735)TGT>TGC		zinc finger E-box binding homeobox 1 isoform b							107.0	104.0	105.0					10																	31803581		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31803581T>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.735T>C	10.37:g.31803581T>C						ZEB1_uc001ivr.3_Silent_p.C27C|ZEB1_uc010qee.1_Silent_p.C27C|ZEB1_uc010qef.1_Silent_p.C27C|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Silent_p.C171C|ZEB1_uc010qeg.1_Silent_p.C104C|ZEB1_uc009xlk.1_Silent_p.C27C|ZEB1_uc001ivt.3_Silent_p.C27C|ZEB1_uc001ivu.3_Silent_p.C246C|ZEB1_uc001ivv.3_Silent_p.C225C|ZEB1_uc010qeh.1_Silent_p.C178C|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Silent_p.C228C|ZEB1_uc009xlp.2_Silent_p.C229C	p.C245C	NM_030751	NP_110378	P37275	ZEB1_HUMAN			6	798	+		Prostate(175;0.0156)	245			C2H2-type 3.		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.735T>C	CCDS7169.1																																																																																				PASS	0.328	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		41	62	41	62	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	53814260	53814260	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:53814260G>T	ENST00000401604.2	+	6	928	c.734G>T	c.(733-735)gGa>gTa	p.G245V	PRKG1_ENST00000373985.1_Missense_Mutation_p.G233V|PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000373980.4_Missense_Mutation_p.G260V			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	245	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.G260V(1)|p.G245V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TATGAAAATGGAGAATATATT	0.413																																						uc001jjm.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(733-735)GGA>GTA		protein kinase, cGMP-dependent, type I isoform							89.0	81.0	84.0					10																	53814260		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53814260G>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.734G>T	10.37:g.53814260G>T	ENSP00000384200:p.Gly245Val					PRKG1_uc001jjn.2_Missense_Mutation_p.G260V|PRKG1_uc001jjo.2_Missense_Mutation_p.G260V|PRKG1_uc009xow.1_5'UTR	p.G245V	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	6	928	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	245			cGMP 2.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.734G>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514543	0.85389	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	6.04	6.04	0.98038	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.98936	4.375	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.962;0.995	D	0.99094	1.0841	10	0.87932	D	0	-15.9329	18.0887	0.89466	0.0:0.0:1.0:0.0	.	260;245	Q13976-2;Q13976	.;KGP1_HUMAN	V	245;233;260;118	ENSP00000384200:G245V;ENSP00000363097:G233V;ENSP00000363092:G260V;ENSP00000363087:G118V	ENSP00000363087:G118V	G	+	2	0	PRKG1	53484266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.296000	0.96104	2.873000	0.98535	0.563000	0.77884	GGA		PASS	0.413	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	51	18	51	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55955514	55955514	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:55955514C>T	ENST00000320301.6	-	11	1628	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	PCDH15_ENST00000373955.1_Missense_Mutation_p.A412T|PCDH15_ENST00000395445.1_Missense_Mutation_p.A412T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.A390T|PCDH15_ENST00000373965.2_Missense_Mutation_p.A412T|PCDH15_ENST00000361849.3_Missense_Mutation_p.A412T|PCDH15_ENST00000395433.1_Missense_Mutation_p.A390T|PCDH15_ENST00000395432.2_Missense_Mutation_p.A375T|PCDH15_ENST00000395438.1_Missense_Mutation_p.A412T|PCDH15_ENST00000395446.1_Missense_Mutation_p.A412T|PCDH15_ENST00000395440.1_Missense_Mutation_p.A412T|PCDH15_ENST00000437009.1_Missense_Mutation_p.A412T|PCDH15_ENST00000414778.1_Missense_Mutation_p.A417T|PCDH15_ENST00000395430.1_Missense_Mutation_p.A412T|PCDH15_ENST00000409834.1_Missense_Mutation_p.A16T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	412	Cadherin 4. {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.A412T(2)|p.A417T(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)				GAAATGGTTGCTCCCACTGGG	0.388										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1234-1236)GCA>ACA		protocadherin 15 isoform CD1-4 precursor							139.0	129.0	132.0					10																	55955514		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.chr10:55955514C>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.1234G>A	10.37:g.55955514C>T	ENSP00000322604:p.Ala412Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.A417T|PCDH15_uc010qhr.1_Missense_Mutation_p.A412T|PCDH15_uc010qhs.1_Missense_Mutation_p.A417T|PCDH15_uc010qht.1_Missense_Mutation_p.A412T|PCDH15_uc010qhu.1_Missense_Mutation_p.A412T|PCDH15_uc001jjv.1_Missense_Mutation_p.A390T|PCDH15_uc010qhv.1_Missense_Mutation_p.A412T|PCDH15_uc010qhw.1_Missense_Mutation_p.A375T|PCDH15_uc010qhx.1_Missense_Mutation_p.A412T|PCDH15_uc010qhy.1_Missense_Mutation_p.A417T|PCDH15_uc010qhz.1_Missense_Mutation_p.A412T|PCDH15_uc010qia.1_Missense_Mutation_p.A390T|PCDH15_uc010qib.1_Missense_Mutation_p.A390T|PCDH15_uc001jjw.2_Missense_Mutation_p.A412T	p.A412T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			11	1629	-		Melanoma(3;0.117)|Lung SC(717;0.238)	412			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1234G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	2.568	-0.300192	0.05532	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.69;0.74;0.73;0.6;0.66;0.73;0.54;0.74;0.72;0.75;0.68;0.74;0.75;0.74;0.8	5.07	0.643	0.17770	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.19846	0.0477	N	0.02830	-0.485	0.21445	N	0.99968	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19935	0.035;0.012;0.006;0.003;0.017;0.012;0.019;0.001;0.006;0.006;0.003;0.0;0.0;0.04;0.006	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23018	0.024;0.016;0.016;0.016;0.043;0.016;0.024;0.01;0.006;0.006;0.016;0.003;0.005;0.032;0.016	T	0.30031	-0.9992	9	0.02654	T	1	.	3.9637	0.09421	0.4563:0.3008:0.0:0.243	.	390;412;412;417;412;375;412;412;412;412;412;417;412;390;412	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	412;417;412;412;16;412;412;412;375;412;390;390;412;412;417;412;412	ENSP00000363076:A412T;ENSP00000410304:A417T;ENSP00000378826:A412T;ENSP00000386693:A16T;ENSP00000378832:A412T;ENSP00000378833:A412T;ENSP00000378827:A412T;ENSP00000378820:A375T;ENSP00000354950:A412T;ENSP00000378821:A390T;ENSP00000363068:A390T;ENSP00000322604:A412T;ENSP00000378818:A412T;ENSP00000412628:A412T;ENSP00000363066:A412T	ENSP00000322604:A412T	A	-	1	0	PCDH15	55625520	0.836000	0.29430	0.999000	0.59377	0.735000	0.41995	0.915000	0.28638	0.115000	0.18071	-0.194000	0.12790	GCA		PASS	0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		25	94	25	94	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61022302	61022302	+	Silent	SNP	C	C	G	rs201233580		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:61022302C>G	ENST00000373868.2	-	10	1215	c.1128G>C	c.(1126-1128)ccG>ccC	p.P376P	FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Silent_p.P293P|FAM13C_ENST00000435852.2_Silent_p.P376P|FAM13C_ENST00000373867.3_Silent_p.P293P|FAM13C_ENST00000277705.6_Silent_p.P397P|FAM13C_ENST00000442566.3_Silent_p.P397P|FAM13C_ENST00000422313.2_Silent_p.P376P	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	376								p.P376P(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						CCGCAGCTTCCGGTTTCCCAT	0.547																																						uc001jkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1126-1128)CCG>CCC		hypothetical protein LOC220965 isoform 1							70.0	73.0	72.0					10																	61022302		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61022302C>G	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.1128G>C	10.37:g.61022302C>G						FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Silent_p.P293P|FAM13C_uc010qie.1_Silent_p.P293P|FAM13C_uc010qif.1_Silent_p.P398P|FAM13C_uc001jkp.2_Silent_p.P293P	p.P376P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			11	1262	-			376					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.1128G>C	CCDS7255.1																																																																																				PASS	0.547	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			23	62	23	62	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98369517	98369517	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:98369517C>T	ENST00000339364.5	-	14	2241	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E530K|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E307K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	708					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.E708K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGTCTCAGCTCCGTCCTAGGG	0.587																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(2122-2124)GAG>AAG		phosphoinositide-3-kinase adaptor protein 1							181.0	189.0	186.0					10																	98369517		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98369517C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2122G>A	10.37:g.98369517C>T	ENSP00000339826:p.Glu708Lys					PIK3AP1_uc001kmo.2_Missense_Mutation_p.E307K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E530K	p.E708K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	14	2250	-		Colorectal(252;0.0442)	708					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.2122G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787927	0.31593	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.46451	0.87;0.87;0.87	5.69	4.77	0.60923	.	0.429521	0.26673	N	0.023095	T	0.36413	0.0966	L	0.40543	1.245	0.36446	D	0.86576	P;P	0.47910	0.763;0.902	B;B	0.43301	0.229;0.415	T	0.39231	-0.9624	10	0.41790	T	0.15	-29.1227	12.589	0.56434	0.0:0.9182:0.0:0.0818	.	708;307	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	K	708;530;307	ENSP00000339826:E708K;ENSP00000360151:E530K;ENSP00000360150:E307K	ENSP00000339826:E708K	E	-	1	0	PIK3AP1	98359507	0.985000	0.35326	0.981000	0.43875	0.534000	0.34807	3.097000	0.50251	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.587	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		77	196	77	196	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103898705	103898705	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:103898705G>A	ENST00000278070.2	+	4	598	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.G187R	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	187					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.G187R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGACCCACTGGGGCCCAGTAC	0.572																																						uc001kum.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(559-561)GGG>AGG		peroxisome proliferator-activated receptor							62.0	65.0	64.0					10																	103898705		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898705G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.559G>A	10.37:g.103898705G>A	ENSP00000278070:p.Gly187Arg					PPRC1_uc001kun.2_Missense_Mutation_p.G67R|PPRC1_uc010qqj.1_Missense_Mutation_p.G187R|PPRC1_uc009xxa.2_5'Flank	p.G187R	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	598	+		Colorectal(252;0.122)	187					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.559G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006078	0.54361	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.54866	0.55;0.55	4.74	4.74	0.60224	.	0.429522	0.21269	N	0.077346	T	0.43211	0.1237	N	0.14661	0.345	0.33135	D	0.543594	D;D;D	0.60160	0.978;0.987;0.978	P;P;P	0.53518	0.539;0.728;0.539	T	0.47420	-0.9119	10	0.26408	T	0.33	.	9.1154	0.36755	0.0981:0.0:0.9019:0.0	.	187;67;187	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	R	187	ENSP00000278070:G187R;ENSP00000399743:G187R	ENSP00000278070:G187R	G	+	1	0	PPRC1	103888695	0.979000	0.34478	0.999000	0.59377	0.967000	0.64934	1.187000	0.32090	2.640000	0.89533	0.561000	0.74099	GGG		PASS	0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		23	45	23	45	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103921618	103921618	+	Missense_Mutation	SNP	G	G	T	rs554186651		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:103921618G>T	ENST00000605788.1	+	12	2112	c.1877G>T	c.(1876-1878)cGa>cTa	p.R626L	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Missense_Mutation_p.R345L|NOLC1_ENST00000488254.2_Missense_Mutation_p.R627L|NOLC1_ENST00000405356.1_Missense_Mutation_p.R636L	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	626					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.R626L(1)|p.R626Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TCCCCATTCCGAAGGGTCAGG	0.483																																						uc001kuo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1876-1878)CGA>CTA		nucleolar and coiled-body phosphoprotein 1							73.0	70.0	71.0					10																	103921618		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921618G>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1877G>T	10.37:g.103921618G>T	ENSP00000474710:p.Arg626Leu					NOLC1_uc001kup.2_Missense_Mutation_p.R636L|NOLC1_uc001kuq.2_Missense_Mutation_p.R627L|NOLC1_uc009xxb.1_Missense_Mutation_p.R345L|NOLC1_uc001kur.2_Missense_Mutation_p.R345L	p.R626L	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	12	2112	+		Colorectal(252;0.122)	626					Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.1877G>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239000	0.95240	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.38560	1.13	5.84	5.84	0.93424	SRP40, C-terminal (1);	0.000000	0.50627	D	0.000118	T	0.68988	0.3061	M	0.87097	2.86	0.80722	D	1	P;P;D	0.61080	0.934;0.934;0.989	P;P;D	0.63793	0.698;0.698;0.918	T	0.73525	-0.3955	10	0.72032	D	0.01	-6.015	18.3239	0.90247	0.0:0.0:1.0:0.0	.	627;636;626	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	L	636;626	ENSP00000385410:R636L	ENSP00000359024:R626L	R	+	2	0	NOLC1	103911608	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.216000	0.95154	2.769000	0.95229	0.563000	0.77884	CGA		PASS	0.483	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		3	54	3	54	---	---	---	---
ZDHHC6	64429	broad.mit.edu	37	10	114202056	114202056	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:114202056T>A	ENST00000369405.3	-	4	836	c.413A>T	c.(412-414)tAc>tTc	p.Y138F	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.Y134F	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	138					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Y138F(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATGATTTTGGTAACCACAACA	0.383																																						uc001kzv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)TAC>TTC		zinc finger, DHHC-type containing 6							130.0	114.0	119.0					10																	114202056		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114202056T>A	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.413A>T	10.37:g.114202056T>A	ENSP00000358413:p.Tyr138Phe					ZDHHC6_uc001kzw.2_Missense_Mutation_p.Y134F|ZDHHC6_uc009xya.1_Missense_Mutation_p.Y138F	p.Y138F	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	4	837	-		Colorectal(252;0.198)	138			DHHC-type.		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.413A>T	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.240984	0.22711	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.24538	1.85;1.85	5.15	3.94	0.45596	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.414326	0.27084	N	0.021006	T	0.10809	0.0264	N	0.05619	-0.005	0.30914	N	0.72874	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15321	-1.0441	10	0.06494	T	0.89	-10.3134	10.6355	0.45563	0.2324:0.0:0.0:0.7676	.	134;138	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	F	138;134	ENSP00000358413:Y138F;ENSP00000358412:Y134F	ENSP00000358412:Y134F	Y	-	2	0	ZDHHC6	114192046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.338000	0.52128	2.067000	0.61834	0.377000	0.23210	TAC		PASS	0.383	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		6	28	6	28	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115388679	115388679	+	Missense_Mutation	SNP	G	G	C	rs370055890		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:115388679G>C	ENST00000359988.3	-	20	2386	c.2142C>G	c.(2140-2142)agC>agG	p.S714R	NRAP_ENST00000369360.3_Missense_Mutation_p.S687R|NRAP_ENST00000360478.3_Missense_Mutation_p.S679R|NRAP_ENST00000369358.4_Missense_Mutation_p.S722R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S714R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGGTTACCTCGCTGACCAGCT	0.552																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2140-2142)AGC>AGG		nebulin-related anchoring protein isoform S							111.0	98.0	103.0					10																	115388679		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115388679G>C		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2142C>G	10.37:g.115388679G>C	ENSP00000353078:p.Ser714Arg					NRAP_uc009xyb.2_Missense_Mutation_p.S25R|NRAP_uc001lak.2_Missense_Mutation_p.S679R|NRAP_uc001lal.3_Missense_Mutation_p.S714R	p.S714R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	20	2306	-		Colorectal(252;0.0233)|Breast(234;0.188)	714			Nebulin 17.			Missense_Mutation	SNP	ENST00000359988.3	37	c.2142C>G	CCDS7579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.460468|2.460468	0.43736|0.43736	.|.	.|.	ENSG00000197893|ENSG00000197893	ENST00000369343|ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.|T;T;T;T	.|0.49139	.|0.79;0.79;0.79;0.79	5.25|5.25	2.0|2.0	0.26442|0.26442	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67382|0.67382	0.2887|0.2887	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.999;0.989	.|D;D;D;P	.|0.76575	.|0.988;0.937;0.977;0.867	T|T	0.65849|0.65849	-0.6068|-0.6068	6|10	0.72032|0.56958	D|D	0.01|0.05	.|.	5.3536|5.3536	0.16050|0.16050	0.5916:0.0:0.4084:0.0|0.5916:0.0:0.4084:0.0	.|.	.|394;714;679;714	.|B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.|.;.;.;NRAP_HUMAN	G|R	387|722;687;714;679;394	.|ENSP00000358365:S722R;ENSP00000358367:S687R;ENSP00000353078:S714R;ENSP00000353666:S679R	ENSP00000358349:R387G|ENSP00000353078:S714R	R|S	-|-	1|3	2|2	NRAP|NRAP	115378669|115378669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.254000|0.254000	0.26022|0.26022	0.834000|0.834000	0.27518|0.27518	0.612000|0.612000	0.30071|0.30071	0.313000|0.313000	0.20887|0.20887	CGA|AGC		PASS	0.552	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		22	56	22	56	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118451897	118451897	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:118451897G>A	ENST00000369209.3	-	6	732	c.628C>T	c.(628-630)Ccg>Tcg	p.P210S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	210						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P831S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGCTTGGCCGGCTGCTTCCAG	0.582																																						uc001lct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)CCG>TCG		heat shock 70kDa protein 12A							119.0	131.0	127.0					10																	118451897		2197	4300	6497	SO:0001583	missense	259217						ATP binding	g.chr10:118451897G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.628C>T	10.37:g.118451897G>A	ENSP00000358211:p.Pro210Ser					HSPA12A_uc001lcu.2_Missense_Mutation_p.P127S	p.P210S	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	6	733	-			210						Missense_Mutation	SNP	ENST00000369209.3	37	c.628C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529805	0.85706	.	.	ENSG00000165868	ENST00000369209	T	0.03553	3.89	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	N	0.11000	0.08	0.80722	D	1	P	0.44877	0.845	P	0.47573	0.55	T	0.60084	-0.7332	10	0.33940	T	0.23	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	210	O43301	HS12A_HUMAN	S	210	ENSP00000358211:P210S	ENSP00000358211:P210S	P	-	1	0	HSPA12A	118441887	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.339000	0.96797	2.755000	0.94549	0.655000	0.94253	CCG		PASS	0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		5	252	5	252	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121658165	121658165	+	Silent	SNP	G	G	A	rs201913734		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr10:121658165G>A	ENST00000369075.3	+	2	462	c.390G>A	c.(388-390)tcG>tcA	p.S130S	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	130	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S130S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAGATGTCTCGAATGCATTTT	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22961	0.0		0.0	False		,,,				2504	0.0					uc001leu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(388-390)TCG>TCA		Sec23-interacting protein p125							165.0	139.0	148.0					10																	121658165		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121658165G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.390G>A	10.37:g.121658165G>A						SEC23IP_uc010qtc.1_Intron	p.S130S	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	2	462	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	130			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.390G>A	CCDS7618.1																																																																																				PASS	0.483	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			40	177	40	177	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1273591	1273591	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:1273591A>T	ENST00000529681.1	+	32	14940	c.14882A>T	c.(14881-14883)aAg>aTg	p.K4961M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.K4964M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4961					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.K4961M(1)|p.K4916M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCTACAATAAGACCGACCGA	0.557																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(15847-15849)AAG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							82.0	99.0	94.0					11																	1273591		2060	4200	6260	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273591A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14882A>T	11.37:g.1273591A>T	ENSP00000436812:p.Lys4961Met					MUC5B_uc001ltb.2_Missense_Mutation_p.K4964M	p.K5283M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	53	15974	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4961					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15848A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	0.236	-1.016931	0.02078	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.36	4.39	-0.816	0.10839	.	.	.	.	.	T	0.26810	0.0656	L	0.43923	1.385	0.09310	N	0.999999	D;D	0.63046	0.992;0.992	P;P	0.52710	0.707;0.707	T	0.23048	-1.0199	9	0.87932	D	0	.	11.0853	0.48082	0.6114:0.0:0.3886:0.0	.	5283;4964	A7Y9J9;E9PBJ0	.;.	M	4961;4964;4905;4660	ENSP00000436812:K4961M;ENSP00000415793:K4964M	ENSP00000343037:K4905M	K	+	2	0	MUC5B	1230167	1.000000	0.71417	0.032000	0.17829	0.014000	0.08584	-0.255000	0.08769	-0.576000	0.05974	-1.447000	0.01057	AAG		PASS	0.557	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		21	69	21	69	---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1774798	1774798	+	Missense_Mutation	SNP	G	G	A	rs377696355		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:1774798G>A	ENST00000236671.2	-	9	1306	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	IFITM10_ENST00000340134.4_5'Flank|RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	392					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)	p.R392C(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGTAGTAGCGGCCGATGAAG	0.647																																						uc001luc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)CGC>TGC		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	CYS/ARG	0,4402		0,0,2201	58.0	61.0	60.0		1174	-2.2	1.0	11		60	1,8595	1.2+/-3.3	0,1,4297	no	missense	CTSD	NM_001909.4	180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	392/413	1774798	1,12997	2201	4298	6499	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1774798G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1174C>T	11.37:g.1774798G>A	ENSP00000236671:p.Arg392Cys					uc001lub.1_5'Flank|CTSD_uc009yda.1_RNA	p.R392C	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	9	1307	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	392					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.1174C>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911076	0.52439	0.0	1.16E-4	ENSG00000117984	ENST00000236671;ENST00000429746	T;T	0.59906	0.23;0.33	3.76	-2.18	0.07037	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.662560	0.15761	N	0.245936	T	0.55970	0.1954	M	0.90542	3.125	0.38159	D	0.938979	B	0.20988	0.05	B	0.17979	0.02	T	0.49523	-0.8931	10	0.62326	D	0.03	.	3.9063	0.09183	0.2491:0.0:0.4701:0.2808	.	392	P07339	CATD_HUMAN	C	392;169	ENSP00000236671:R392C;ENSP00000402586:R169C	ENSP00000236671:R392C	R	-	1	0	CTSD	1731374	0.655000	0.27376	0.956000	0.39512	0.962000	0.63368	1.123000	0.31308	-0.572000	0.06006	0.313000	0.20887	CGC		PASS	0.647	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		9	53	9	53	---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825550	4825550	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:4825550G>T	ENST00000356069.2	-	1	60	c.61C>A	c.(61-63)Cca>Aca	p.P21T	OR52R1_ENST00000380382.1_Missense_Mutation_p.P100T|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P100T(1)|p.P20T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAGGCCTGGGATTCCAAGC	0.493																																						uc010qym.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(298-300)CCA>ACA		olfactory receptor, family 52, subfamily R,							94.0	84.0	87.0					11																	4825550		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825550G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.61C>A	11.37:g.4825550G>T	ENSP00000348368:p.Pro21Thr						p.P100T	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	298	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	21			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.298C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757905	0.49468	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00498	6.97;6.97	5.57	4.66	0.58398	.	0.000000	0.46758	D	0.000279	T	0.01523	0.0049	M	0.66439	2.03	0.47547	D	0.999456	D	0.89917	1.0	D	0.91635	0.999	T	0.65368	-0.6185	10	0.87932	D	0	.	13.1789	0.59642	0.0768:0.0:0.9232:0.0	.	21	Q8NGF1	O52R1_HUMAN	T	21;100	ENSP00000348368:P21T;ENSP00000369742:P100T	ENSP00000348368:P21T	P	-	1	0	OR52R1	4782126	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	4.079000	0.57613	1.582000	0.49881	0.650000	0.86243	CCA		PASS	0.493	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		8	49	8	49	---	---	---	---
OR51A7	119687	broad.mit.edu	37	11	4929170	4929170	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:4929170G>A	ENST00000359350.4	+	1	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D191N(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTGCTCTGACAACAAGAC	0.398																																						uc010qyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(571-573)GAC>AAC		olfactory receptor, family 51, subfamily A,							206.0	167.0	180.0					11																	4929170		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929170G>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.571G>A	11.37:g.4929170G>A	ENSP00000352305:p.Asp191Asn						p.D191N	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	571	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	191			Extracellular (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.571G>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830000	0.71258	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.39997	1.05	5.02	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.128747	0.35179	N	0.003383	T	0.46852	0.1414	L	0.55213	1.73	0.32863	D	0.508216	P	0.45011	0.848	P	0.50825	0.651	T	0.61128	-0.7125	10	0.54805	T	0.06	.	10.4572	0.44557	0.1631:0.0:0.8369:0.0	.	191	Q8NH64	O51A7_HUMAN	N	191;191;180	ENSP00000352305:D191N	ENSP00000352305:D191N	D	+	1	0	OR51A7	4885746	0.348000	0.24861	1.000000	0.80357	0.993000	0.82548	0.988000	0.29616	1.338000	0.45544	0.655000	0.94253	GAC		PASS	0.398	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		26	128	26	128	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068359	5068359	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:5068359C>A	ENST00000380370.1	+	1	604	c.604C>A	c.(604-606)Ctt>Att	p.L202I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L202I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATCTATGGGCTTTTTGTAGT	0.443																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(604-606)CTT>ATT		olfactory receptor, family 52, subfamily J,							282.0	257.0	266.0					11																	5068359		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068359C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.604C>A	11.37:g.5068359C>A	ENSP00000369728:p.Leu202Ile						p.L202I	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	604	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	202			Helical; Name=5; (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.604C>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625837	0.28889	.	.	ENSG00000205495	ENST00000380370	T	0.00158	8.65	4.19	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000724	T	0.00440	0.0014	M	0.85777	2.775	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36114	-0.9761	10	0.59425	D	0.04	.	8.0283	0.30451	0.0:0.8079:0.0:0.1921	.	202	Q8NH60	O52J3_HUMAN	I	202	ENSP00000369728:L202I	ENSP00000369728:L202I	L	+	1	0	OR52J3	5024935	0.000000	0.05858	0.963000	0.40424	0.230000	0.25150	-0.433000	0.06948	2.143000	0.66587	0.655000	0.94253	CTT		PASS	0.443	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		52	122	52	122	---	---	---	---
HBD	3045	broad.mit.edu	37	11	5255338	5255338	+	Missense_Mutation	SNP	C	C	A	rs199907531		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:5255338C>A	ENST00000380299.3	-	2	412	c.198G>T	c.(196-198)aaG>aaT	p.K66N	HBD_ENST00000292901.3_Missense_Mutation_p.K66N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	66					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.K66N(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCACCTTCTTGCCATGAG	0.542																																						uc001maf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)AAG>AAT		delta globin							161.0	139.0	147.0					11																	5255338		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255338C>A	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.198G>T	11.37:g.5255338C>A	ENSP00000369654:p.Lys66Asn						p.K66N	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	393	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	66					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.198G>T	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302792	0.40795	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.93247	-3.19;-3.19;-3.19	4.33	1.03	0.20045	Globin-like (1);Globin, structural domain (1);	0.720818	0.13726	N	0.367015	D	0.93197	0.7833	M	0.90650	3.135	0.31636	N	0.648433	B	0.28971	0.229	B	0.35470	0.203	D	0.91453	0.5183	10	0.87932	D	0	-1.4528	3.8737	0.09047	0.247:0.5304:0.1335:0.0891	.	66	P02042	HBD_HUMAN	N	66	ENSP00000292901:K66N;ENSP00000369654:K66N;ENSP00000393810:K66N	ENSP00000292901:K66N	K	-	3	2	HBD	5211914	0.248000	0.23930	1.000000	0.80357	0.938000	0.57974	-0.104000	0.10923	0.525000	0.28522	0.585000	0.79938	AAG		PASS	0.542	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		44	91	44	91	---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5289800	5289801	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:5289800_5289801GA>TG	ENST00000380237.1	-	5	686_687	c.342_343TC>CA	c.(340-345)atTCtg>atCAtg	p.L115M	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.L115M			P02100	HBE_HUMAN	hemoglobin, epsilon 1	115					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.L115M(2)|p.I114I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGTAGCCAGAATAATCACCA	0.48																																						uc001mal.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(343-345)CTG>ATG|c.(340-342)ATT>ATC		epsilon globin																																				SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289800G>T|g.chr11:5289801A>G	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.342_343delinsTG	11.37:g.5289800_5289801delinsTG	ENSP00000369586:p.Leu115Met					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.L115M|HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.I114I	p.L115M|p.I114I	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	596|595	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	115|114					Q6FH44	Missense_Mutation|Silent	SNP	ENST00000380237.1	37	c.343C>A|c.342T>C	CCDS7756.1																																																																																				PASS	0.480	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		40|41	186|187	40	186	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7059848	7059848	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:7059848C>T	ENST00000299481.4	+	2	377	c.31C>T	c.(31-33)Cct>Tct	p.P11S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	11	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.P11S(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCTTTCTTTCCTGATTTTGG	0.398																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(31-33)CCT>TCT		NLR family, pyrin domain containing 14							89.0	98.0	95.0					11																	7059848		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059848C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.31C>T	11.37:g.7059848C>T	ENSP00000299481:p.Pro11Ser						p.P11S	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	354	+			11			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.31C>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214291	0.09810	.	.	ENSG00000158077	ENST00000299481	T	0.55413	0.52	4.22	-1.88	0.07713	Pyrin (1);DEATH-like (2);	0.695831	0.12737	N	0.443381	T	0.16128	0.0388	N	0.02916	-0.46	0.24484	N	0.994333	B	0.02656	0.0	B	0.06405	0.002	T	0.22941	-1.0202	10	0.02654	T	1	.	0.6162	0.00770	0.1686:0.2647:0.1743:0.3924	.	11	Q86W24	NAL14_HUMAN	S	11	ENSP00000299481:P11S	ENSP00000299481:P11S	P	+	1	0	NLRP14	7016424	0.995000	0.38212	0.983000	0.44433	0.327000	0.28475	-0.021000	0.12504	-0.333000	0.08476	-1.073000	0.02249	CCT		PASS	0.398	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		40	125	40	125	---	---	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16812380	16812380	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:16812380C>A	ENST00000355661.3	-	21	3027	c.3017G>T	c.(3016-3018)gGc>gTc	p.G1006V	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G1006V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G1007V|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1006					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.G1006V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTCTCAGGGCCCACAAGTCC	0.642																																						uc001mmo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(3016-3018)GGC>GTC		pleckstrin homology domain containing, family A							32.0	27.0	28.0					11																	16812380		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16812380C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.3017G>T	11.37:g.16812380C>A	ENSP00000347883:p.Gly1006Val					PLEKHA7_uc010rcu.1_Missense_Mutation_p.G1007V|PLEKHA7_uc001mmm.2_Missense_Mutation_p.G109V|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G581V|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G715V	p.G1006V	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			21	3032	-			1006					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.3017G>T	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.252268|4.252268	0.80135|0.80135	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.07114	.|3.23;3.22;3.22	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.196473	.|0.53938	.|D	.|0.000050	T|T	0.18509|0.18509	0.0444|0.0444	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;B;D;D	.|0.55172	.|0.956;0.696;0.11;0.965;0.97	.|P;B;B;P;P	.|0.54174	.|0.656;0.139;0.03;0.744;0.563	T|T	0.00037|0.00037	-1.2251|-1.2251	5|10	.|0.41790	.|T	.|0.15	-24.3959|-24.3959	17.2843|17.2843	0.87137|0.87137	0.0:0.875:0.125:0.0|0.0:0.875:0.125:0.0	.|.	.|581;1006;1006;1007;123	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.|.;.;PKHA7_HUMAN;.;.	S|V	638|1006;1006;1007	.|ENSP00000435389:G1006V;ENSP00000347883:G1006V;ENSP00000416895:G1007V	.|ENSP00000347883:G1006V	A|G	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16768956|16768956	0.832000|0.832000	0.29368|0.29368	0.744000|0.744000	0.31058|0.31058	0.994000|0.994000	0.84299|0.84299	2.487000|2.487000	0.45268|0.45268	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GCC|GGC		PASS	0.642	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	13	3	13	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033008	30033008	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:30033008G>A	ENST00000328224.6	-	2	2451	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	406					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.I406I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAATGTCAATGATGTTCATGA	0.488																																						uc001msk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1216-1218)ATC>ATT		potassium voltage-gated channel, shaker-related							82.0	78.0	79.0					11																	30033008		2086	4250	6336	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033008G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1218C>T	11.37:g.30033008G>A							p.I406I	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2370	-			406			Helical; Name=Segment S3; (Potential).			Silent	SNP	ENST00000328224.6	37	c.1218C>T	CCDS41629.1																																																																																				PASS	0.488	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		35	66	35	66	---	---	---	---
C11orf74	119710	broad.mit.edu	37	11	36680701	36680701	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:36680701G>A	ENST00000334307.5	+	6	746	c.631G>A	c.(631-633)Gac>Aac	p.D211N	C11orf74_ENST00000534635.1_Missense_Mutation_p.D137N|C11orf74_ENST00000347206.4_Missense_Mutation_p.D137N|C11orf74_ENST00000446510.2_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	211								p.D211N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GAAGAGAAAGGACACCAGCCC	0.383																																						uc001mwy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)GAC>AAC		hypothetical protein LOC119710							129.0	124.0	126.0					11																	36680701		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36680701G>A	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.631G>A	11.37:g.36680701G>A	ENSP00000334848:p.Asp211Asn					C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.D137N|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Missense_Mutation_p.D137N|C11orf74_uc010rfe.1_Intron	p.D211N	NM_138787	NP_620142	Q86VG3	CK074_HUMAN			6	704	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	211					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.631G>A	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982401	0.18889	.	.	ENSG00000166352	ENST00000334307;ENST00000347206;ENST00000534635	.	.	.	5.38	-0.822	0.10819	.	1.486650	0.03695	N	0.247757	T	0.28200	0.0696	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.19877	-1.0292	8	.	.	.	-0.4628	10.5207	0.44918	0.3697:0.0:0.6303:0.0	.	211;137	Q86VG3;Q86VG3-2	CK074_HUMAN;.	N	211;137;137	.	.	D	+	1	0	C11orf74	36637277	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.202000	0.17295	-0.090000	0.12462	-0.806000	0.03193	GAC		PASS	0.383	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		30	52	30	52	---	---	---	---
HSD17B12	51144	broad.mit.edu	37	11	43772487	43772487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:43772487G>T	ENST00000278353.4	+	2	306	c.187G>T	c.(187-189)Gga>Tga	p.G63*	HSD17B12_ENST00000395700.4_Nonsense_Mutation_p.G63*|HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	63					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)	p.G63*(1)		endometrium(2)|large_intestine(4)|lung(4)	10						TGATGGAATTGGAAAATCATA	0.318																																					Ovarian(58;548 1143 13948 16572 34258)	uc001mxq.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(187-189)GGA>TGA		hydroxysteroid (17-beta) dehydrogenase 12							135.0	122.0	127.0					11																	43772487		2203	4300	6503	SO:0001587	stop_gained	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43772487G>T	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.187G>T	11.37:g.43772487G>T	ENSP00000278353:p.Gly63*					HSD17B12_uc001mxp.2_RNA	p.G63*	NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN			2	422	+			63			NADP (By similarity).		A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Nonsense_Mutation	SNP	ENST00000278353.4	37	c.187G>T	CCDS7905.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578338	0.86645	.	.	ENSG00000149084	ENST00000278353;ENST00000395700	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.3713	15.9141	0.79496	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000278353:G63X	G	+	1	0	HSD17B12	43729063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.275000	0.75901	0.561000	0.74099	GGA		PASS	0.318	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			16	81	16	81	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44076801	44076801	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:44076801G>C	ENST00000378832.1	+	9	1155	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	367					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.D367H(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTCTGTGTTTGATGAATCCAT	0.418																																						uc001mxw.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1099-1101)GAT>CAT		1-aminocyclopropane-1-carboxylate synthase							116.0	108.0	110.0					11																	44076801		1942	4155	6097	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44076801G>C		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1099G>C	11.37:g.44076801G>C	ENSP00000368109:p.Asp367His					ACCSL_uc009ykr.2_Missense_Mutation_p.D186H	p.D367H	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			9	1155	+			367						Missense_Mutation	SNP	ENST00000378832.1	37	c.1099G>C	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591883	0.66219	.	.	ENSG00000205126	ENST00000378832	D	0.90788	-2.73	4.14	3.21	0.36854	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.173343	0.51477	D	0.000089	D	0.94324	0.8176	M	0.76838	2.35	0.44345	D	0.997239	D	0.89917	1.0	D	0.79108	0.992	D	0.94158	0.7412	10	0.66056	D	0.02	-4.7868	11.7648	0.51924	0.0:0.1797:0.8203:0.0	.	367	Q4AC99	1A1L2_HUMAN	H	367	ENSP00000368109:D367H	ENSP00000368109:D367H	D	+	1	0	ACCSL	44033377	1.000000	0.71417	0.839000	0.33178	0.998000	0.95712	5.190000	0.65104	1.043000	0.40175	0.655000	0.94253	GAT		PASS	0.418	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		8	75	8	75	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45265772	45265772	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:45265772G>A	ENST00000020926.3	-	6	1223	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	371	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.A371V(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACACTGGAGGCCTGCAGCAG	0.597																																						uc001myq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)GCC>GTC		synaptotagmin XIII							101.0	87.0	92.0					11																	45265772		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265772G>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1112C>T	11.37:g.45265772G>A	ENSP00000020926:p.Ala371Val					SYT13_uc009yku.1_Missense_Mutation_p.A227V	p.A371V	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			6	1238	-			371			C2 2.|Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1112C>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311463	0.81358	.	.	ENSG00000019505	ENST00000020926	T	0.68624	-0.34	5.27	4.33	0.51752	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.237713	0.37219	N	0.002183	T	0.68979	0.3060	L	0.37697	1.125	0.39378	D	0.966205	D	0.63880	0.993	P	0.57620	0.824	T	0.71998	-0.4423	10	0.54805	T	0.06	.	12.7687	0.57408	0.0:0.0:0.7015:0.2985	.	371	Q7L8C5	SYT13_HUMAN	V	371	ENSP00000020926:A371V	ENSP00000020926:A371V	A	-	2	0	SYT13	45222348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.511000	0.60462	1.167000	0.42706	0.655000	0.94253	GCC		PASS	0.597	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		20	34	20	34	---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46001392	46001392	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:46001392C>A	ENST00000418153.2	-	6	478	c.279G>T	c.(277-279)caG>caT	p.Q93H	PHF21A_ENST00000323180.6_Missense_Mutation_p.Q93H|PHF21A_ENST00000257821.4_Missense_Mutation_p.Q93H			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	93	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q93H(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						gttgtagttgctgtagtggtt	0.488																																						uc001ncc.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(277-279)CAG>CAT		BRAF35/HDAC2 complex isoform a							357.0	280.0	306.0					11																	46001392		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001392C>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.279G>T	11.37:g.46001392C>A	ENSP00000398824:p.Gln93His					PHF21A_uc001ncb.3_Missense_Mutation_p.Q93H|PHF21A_uc009ykx.2_Missense_Mutation_p.Q93H|PHF21A_uc001nce.2_Missense_Mutation_p.Q93H	p.Q93H	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			6	903	-			93			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.279G>T	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552812	0.65425	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000524497;ENST00000531959;ENST00000529734	D;D;D	0.94828	-3.07;-3.53;-3.11	5.88	4.97	0.65823	.	0.295574	0.38381	N	0.001720	D	0.90045	0.6891	L	0.29908	0.895	0.40916	D	0.984273	B;B	0.11235	0.001;0.004	B;B	0.06405	0.001;0.002	D	0.86902	0.2055	10	0.66056	D	0.02	0.0088	12.1126	0.53848	0.0:0.8584:0.0:0.1416	.	93;93	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	H	93;93;93;100;100;93	ENSP00000257821:Q93H;ENSP00000323152:Q93H;ENSP00000398824:Q93H	ENSP00000257821:Q93H	Q	-	3	2	PHF21A	45957968	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.631000	0.37092	1.497000	0.48584	0.655000	0.94253	CAG		PASS	0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		12	41	12	41	---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46408056	46408056	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:46408056G>A	ENST00000433765.2	-	1	51	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	18					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.L18L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GACGTGACCAGGCGCACGGAC	0.582																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)CTG>TTG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						100.0	102.0	101.0					11																	46408056		2135	4240	6375	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46408056G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.52C>T	11.37:g.46408056G>A							p.L18L	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	52	-			18			Extracellular (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.52C>T	CCDS44581.1																																																																																				PASS	0.582	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		51	101	51	101	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003423	50003423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:50003423G>T	ENST00000335238.4	-	1	648	c.615C>A	c.(613-615)tgC>tgA	p.C205*		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C205*(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AGTTTAATAAGCAGATAAACC	0.413																																						uc010ria.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(613-615)TGC>TGA		olfactory receptor, family 4, subfamily C,							99.0	97.0	97.0					11																	50003423		2201	4296	6497	SO:0001587	stop_gained	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003423G>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.615C>A	11.37:g.50003423G>T	ENSP00000334418:p.Cys205*						p.C205*	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	615	-			205			Helical; Name=5; (Potential).		B2RNF0|Q6IF49	Nonsense_Mutation	SNP	ENST00000335238.4	37	c.615C>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	2.964	-0.213979	0.06101	.	.	ENSG00000221954	ENST00000335238	.	.	.	2.45	-0.704	0.11256	.	0.000000	0.46442	U	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4787	0.07594	0.3929:0.2022:0.4049:0.0	.	.	.	.	X	205	.	ENSP00000334418:C205X	C	-	3	2	OR4C12	49959999	0.000000	0.05858	0.564000	0.28396	0.095000	0.18619	-1.399000	0.02506	-0.143000	0.11334	0.398000	0.26397	TGC		PASS	0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		28	73	28	73	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:51411541C>G	ENST00000319760.6	-	1	907	c.855G>C	c.(853-855)acG>acC	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T285T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATTTCTCAACGTATATATTA	0.328																																						uc001nhi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(853-855)ACG>ACC		olfactory receptor, family 4, subfamily A,							34.0	36.0	35.0					11																	51411541		2201	4293	6494	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411541C>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.855G>C	11.37:g.51411541C>G							p.T285T	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	855	-		all_lung(304;0.236)	285			Helical; Name=7; (Potential).		Q6IF84	Silent	SNP	ENST00000319760.6	37	c.855G>C	CCDS31497.1																																																																																				PASS	0.328	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		25	40	25	40	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111131	55111131	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:55111131T>A	ENST00000314721.2	+	1	505	c.455T>A	c.(454-456)gTg>gAg	p.V152E		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V152E(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGAGGTTTTGTGCACTCTGTG	0.458																																						uc010rie.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(454-456)GTG>GAG		olfactory receptor, family 4, subfamily A,							193.0	173.0	180.0					11																	55111131		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111131T>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.455T>A	11.37:g.55111131T>A	ENSP00000325128:p.Val152Glu						p.V152E	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	455	+			152			Helical; Name=4; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.455T>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	9.060	0.994339	0.19043	.	.	ENSG00000181961	ENST00000314721	T	0.40476	1.03	2.69	-0.92	0.10475	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50000	0.1590	M	0.75777	2.31	0.09310	N	1	P	0.44195	0.828	P	0.54431	0.752	T	0.46005	-0.9222	9	0.87932	D	0	.	2.4185	0.04442	0.2144:0.2552:0.0:0.5304	.	152	Q8NH70	O4A16_HUMAN	E	152	ENSP00000325128:V152E	ENSP00000325128:V152E	V	+	2	0	OR4A16	54867707	0.000000	0.05858	0.001000	0.08648	0.126000	0.20510	0.088000	0.14979	-0.340000	0.08388	0.346000	0.21813	GTG		PASS	0.458	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		45	91	45	91	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371078	55371078	+	Missense_Mutation	SNP	G	G	T	rs140582621	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:55371078G>T	ENST00000302231.4	-	1	796	c.772C>A	c.(772-774)Cgc>Agc	p.R258S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTCGGGGGGCGTGTATATATG	0.443																																						uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)CGC>AGC		olfactory receptor, family 4, subfamily C,							65.0	55.0	59.0					11																	55371078		2178	4003	6181	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371078G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.772C>A	11.37:g.55371078G>T	ENSP00000306651:p.Arg258Ser						p.R258S	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	772	-			258			Extracellular (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.772C>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	5.020	0.189332	0.09547	.	.	ENSG00000172188	ENST00000302231	T	0.36520	1.25	4.34	0.155	0.14906	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	U	0.000215	T	0.29783	0.0744	M	0.64676	1.99	0.09310	N	1	B	0.17667	0.023	B	0.21360	0.034	T	0.29119	-1.0022	10	0.87932	D	0	.	4.2651	0.10759	0.338:0.0:0.5129:0.1491	.	258	Q6IEV9	OR4CB_HUMAN	S	258	ENSP00000306651:R258S	ENSP00000306651:R258S	R	-	1	0	OR4C11	55127654	0.000000	0.05858	0.191000	0.23289	0.028000	0.11728	-0.624000	0.05540	-0.040000	0.13580	-0.350000	0.07774	CGC		PASS	0.443	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		18	103	18	103	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406052	55406052	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:55406052C>A	ENST00000314612.2	+	1	219	c.219C>A	c.(217-219)tcC>tcA	p.S73S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S73S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCTACACATCCACAGTGACCC	0.403																																						uc010rij.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(217-219)TCC>TCA		olfactory receptor, family 4, subfamily P,							151.0	130.0	137.0					11																	55406052		2179	4030	6209	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406052C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.219C>A	11.37:g.55406052C>A							p.S73S	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	219	+			73			Helical; Name=2; (Potential).			Silent	SNP	ENST00000314612.2	37	c.219C>A	CCDS31504.1																																																																																				PASS	0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		39	143	39	143	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432749	55432749	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:55432749C>A	ENST00000314259.3	+	1	136	c.107C>A	c.(106-108)aCa>aAa	p.T36K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T36K(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATGTAGCCACAGTGCTGGAA	0.383																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(106-108)ACA>AAA		olfactory receptor, family 4, subfamily C,							230.0	208.0	215.0					11																	55432749		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432749C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.107C>A	11.37:g.55432749C>A	ENSP00000324769:p.Thr36Lys					OR4C6_uc010rik.1_Missense_Mutation_p.T36K	p.T36K	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	372	+			36			Helical; Name=1; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.107C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500831	0.44455	.	.	ENSG00000181903	ENST00000314259	T	0.00509	6.91	3.83	0.722	0.18225	.	0.000000	0.39615	N	0.001312	T	0.02727	0.0082	H	0.98314	4.2	0.09310	N	1	D	0.69078	0.997	D	0.69307	0.963	T	0.18304	-1.0341	10	0.72032	D	0.01	.	8.2954	0.31982	0.0:0.6241:0.0:0.3759	.	36	Q8NH72	OR4C6_HUMAN	K	36	ENSP00000324769:T36K	ENSP00000324769:T36K	T	+	2	0	OR4C6	55189325	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.312000	0.08113	0.136000	0.18733	0.543000	0.68304	ACA		PASS	0.383	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		96	166	96	166	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761812	55761812	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:55761812C>A	ENST00000278409.1	-	1	289	c.290G>T	c.(289-291)tGc>tTc	p.C97F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	97					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.C97F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGTAGGAAGCAGCCAGCAAA	0.473																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(289-291)TGC>TTC		olfactory receptor, family 5, subfamily F,							85.0	83.0	83.0					11																	55761812		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761812C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.290G>T	11.37:g.55761812C>A	ENSP00000278409:p.Cys97Phe						p.C97F	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	290	-	Esophageal squamous(21;0.00448)		97			Extracellular (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.290G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510570	0.64522	.	.	ENSG00000149133	ENST00000278409	T	0.00547	6.66	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04770	0.0129	H	0.98701	4.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.03840	-1.0999	9	0.87932	D	0	.	12.8922	0.58078	0.0:1.0:0.0:0.0	.	97	O95221	OR5F1_HUMAN	F	97	ENSP00000278409:C97F	ENSP00000278409:C97F	C	-	2	0	OR5F1	55518388	1.000000	0.71417	0.913000	0.36048	0.891000	0.51852	6.929000	0.75852	1.422000	0.47177	0.297000	0.19635	TGC		PASS	0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		24	58	24	58	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57571193	57571193	+	Silent	SNP	T	T	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:57571193T>G	ENST00000399050.4	+	8	2057	c.1521T>G	c.(1519-1521)ggT>ggG	p.G507G	CTNND1_ENST00000528232.1_Silent_p.G406G|CTNND1_ENST00000426142.2_Silent_p.G406G|CTNND1_ENST00000526938.1_Silent_p.G507G|CTNND1_ENST00000527467.1_Silent_p.G184G|CTNND1_ENST00000531014.1_Silent_p.G184G|CTNND1_ENST00000529919.1_Silent_p.G507G|CTNND1_ENST00000530094.1_Silent_p.G406G|CTNND1_ENST00000529873.1_Silent_p.G453G|CTNND1_ENST00000532463.1_Silent_p.G406G|CTNND1_ENST00000358694.6_Silent_p.G507G|CTNND1_ENST00000361391.6_Silent_p.G507G|CTNND1_ENST00000532245.1_Silent_p.G406G|CTNND1_ENST00000361332.4_Silent_p.G507G|CTNND1_ENST00000533667.1_Silent_p.G184G|CTNND1_ENST00000525902.1_Silent_p.G184G|CTNND1_ENST00000524630.1_Silent_p.G507G|CTNND1_ENST00000526357.1_Silent_p.G453G|CTNND1_ENST00000415361.2_Silent_p.G406G|CTNND1_ENST00000361796.4_Silent_p.G507G|CTNND1_ENST00000534579.1_Silent_p.G453G|CTNND1_ENST00000532787.1_Silent_p.G406G|CTNND1_ENST00000532844.1_Silent_p.G453G|CTNND1_ENST00000428599.2_Silent_p.G507G|CTNND1_ENST00000526772.1_Silent_p.G184G|CTNND1_ENST00000529986.1_Silent_p.G406G|CTNND1_ENST00000399039.4_Silent_p.G507G|CTNND1_ENST00000360682.6_Silent_p.G507G|CTNND1_ENST00000530748.1_Silent_p.G453G|CTNND1_ENST00000528621.1_Silent_p.G453G|CTNND1_ENST00000529526.1_Silent_p.G453G|CTNND1_ENST00000532649.1_Silent_p.G453G	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	507					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.G507G(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTCATTCTGGTTGGGAGCGGG	0.488																																						uc001nmc.3																			2	Substitution - coding silent(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(1519-1521)GGT>GGG		catenin, delta 1 isoform 1ABC							87.0	83.0	84.0					11																	57571193		1992	4165	6157	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57571193T>G	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1521T>G	11.37:g.57571193T>G						CTNND1_uc001nlh.1_Silent_p.G507G|CTNND1_uc001nlu.3_Silent_p.G406G|CTNND1_uc001nlt.3_Silent_p.G406G|CTNND1_uc001nls.3_Silent_p.G406G|CTNND1_uc001nlw.3_Silent_p.G406G|CTNND1_uc001nmf.3_Silent_p.G507G|CTNND1_uc001nmd.3_Silent_p.G453G|CTNND1_uc001nlk.3_Silent_p.G453G|CTNND1_uc001nme.3_Silent_p.G507G|CTNND1_uc001nll.3_Silent_p.G453G|CTNND1_uc001nmg.3_Silent_p.G453G|CTNND1_uc001nlj.3_Silent_p.G453G|CTNND1_uc001nlr.3_Silent_p.G453G|CTNND1_uc001nlp.3_Silent_p.G453G|CTNND1_uc001nlx.3_Silent_p.G184G|CTNND1_uc001nlz.3_Silent_p.G184G|CTNND1_uc009ymn.2_Silent_p.G184G|CTNND1_uc001nlm.3_Silent_p.G507G|CTNND1_uc001nly.3_Silent_p.G184G|CTNND1_uc001nmb.3_Silent_p.G184G|CTNND1_uc001nma.3_Silent_p.G184G|CTNND1_uc001nmi.3_Silent_p.G406G|CTNND1_uc001nmh.3_Silent_p.G507G|CTNND1_uc001nlq.3_Silent_p.G406G|CTNND1_uc001nln.3_Silent_p.G507G|CTNND1_uc001nli.3_Silent_p.G507G|CTNND1_uc001nlo.3_Silent_p.G406G|CTNND1_uc001nlv.3_Silent_p.G406G	p.G507G	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			8	2092	+		all_epithelial(135;0.155)	507			ARM 4.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.1521T>G	CCDS44604.1																																																																																				PASS	0.488	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		9	29	9	29	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61048362	61048362	+	Missense_Mutation	SNP	C	C	A	rs200553245	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:61048362C>A	ENST00000335613.5	-	8	1519	c.1133G>T	c.(1132-1134)cGa>cTa	p.R378L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	378						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R378L(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCTGCCAGTCGGGGGGACTC	0.667																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1132-1134)CGA>CTA		von Willebrand factor C and EGF domains							9.0	11.0	10.0					11																	61048362		2188	4279	6467	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61048362C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1133G>T	11.37:g.61048362C>A	ENSP00000334186:p.Arg378Leu					VWCE_uc001nrb.2_RNA	p.R378L	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			8	1412	-			378					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1133G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188088	0.09547	.	.	ENSG00000167992	ENST00000335613	T	0.68624	-0.34	5.46	-10.9	0.00192	.	1.899020	0.02748	N	0.117072	T	0.48205	0.1487	L	0.38175	1.15	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.20571	-1.0271	10	0.27082	T	0.32	.	6.68	0.23115	0.0821:0.1565:0.1626:0.5989	.	378	Q96DN2	VWCE_HUMAN	L	378	ENSP00000334186:R378L	ENSP00000334186:R378L	R	-	2	0	VWCE	60804938	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.455000	0.01003	-2.917000	0.00306	-0.793000	0.03317	CGA		PASS	0.667	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		4	10	4	10	---	---	---	---
SLC22A10	387775	broad.mit.edu	37	11	63065100	63065100	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:63065100G>T	ENST00000332793.6	+	4	733	c.731G>T	c.(730-732)gGa>gTa	p.G244V	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.G89V|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Missense_Mutation_p.G34V	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	244						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.G244V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTTAGTATTGGACAGATAATC	0.453																																						uc009yor.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(730-732)GGA>GTA		solute carrier family 22, member 10							153.0	142.0	146.0					11																	63065100		1917	4123	6040	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63065100G>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.731G>T	11.37:g.63065100G>T	ENSP00000327569:p.Gly244Val					SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	p.G244V	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			4	939	+			244			Helical; (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.731G>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680609	0.68042	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793	T;D;D	0.90788	-0.97;-2.73;-2.73	2.94	2.94	0.34122	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.96753	0.8940	H	0.98027	4.13	0.42021	D	0.990989	D	0.89917	1.0	D	0.85130	0.997	D	0.97261	0.9904	10	0.87932	D	0	.	11.8327	0.52305	0.0:0.0:1.0:0.0	.	244	Q63ZE4	S22AA_HUMAN	V	34;89;244	ENSP00000444602:G34V;ENSP00000445667:G89V;ENSP00000327569:G244V	ENSP00000327569:G244V	G	+	2	0	SLC22A10	62821676	1.000000	0.71417	0.012000	0.15200	0.512000	0.34134	5.484000	0.66844	1.702000	0.51228	0.447000	0.29281	GGA		PASS	0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		36	97	36	97	---	---	---	---
CATSPER1	117144	broad.mit.edu	37	11	65786374	65786374	+	Splice_Site	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:65786374C>A	ENST00000312106.5	-	10	2263		c.e10-1			NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1						calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCTTTGGGCTCTGGATGTAGA	0.537																																						uc001ogt.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e10-1		sperm-associated cation channel 1							81.0	75.0	77.0					11																	65786374		2201	4296	6497	SO:0001630	splice_region_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65786374C>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2126-1G>T	11.37:g.65786374C>A							p.E709_splice	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			10	2264	-								Q96P76	Splice_Site	SNP	ENST00000312106.5	37	c.2126_splice	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399348	0.42512	.	.	ENSG00000175294	ENST00000312106	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2831	0.60226	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CATSPER1	65542950	1.000000	0.71417	0.957000	0.39632	0.065000	0.16274	3.145000	0.50623	2.595000	0.87683	0.655000	0.94253	.		PASS	0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	Intron	17	38	17	38	---	---	---	---
TMEM151A	256472	broad.mit.edu	37	11	66062539	66062539	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:66062539C>A	ENST00000327259.4	+	2	966	c.822C>A	c.(820-822)gcC>gcA	p.A274A		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	274						integral component of membrane (GO:0016021)		p.A274A(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						TGGTCTTCGCCGACCCCCGCA	0.697																																						uc001ohl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(820-822)GCC>GCA		transmembrane protein 151A							14.0	12.0	13.0					11																	66062539		2156	4211	6367	SO:0001819	synonymous_variant	256472					integral to membrane		g.chr11:66062539C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.822C>A	11.37:g.66062539C>A							p.A274A	NM_153266	NP_694998	Q8N4L1	T151A_HUMAN			2	934	+			274					Q8ND14	Silent	SNP	ENST00000327259.4	37	c.822C>A	CCDS8133.1																																																																																				PASS	0.697	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		10	21	10	21	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780992	88780993	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:88780992_88780993GG>AT	ENST00000305447.4	-	1	197_198	c.48_49CC>AT	c.(46-51)gtCCgt>gtATgt	p.R17C	GRM5_ENST00000305432.5_Missense_Mutation_p.R17C|GRM5_ENST00000393294.3_Missense_Mutation_p.R17C|GRM5_ENST00000455756.2_Missense_Mutation_p.R17C|GRM5_ENST00000393297.1_Missense_Mutation_p.R17C|GRM5_ENST00000418177.2_Missense_Mutation_p.R17C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	17					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R17C(4)|p.V16V(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCACTCCCACGGACATCTTCTT	0.47																																						uc001pcq.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(49-51)CGT>TGT|c.(46-48)GTC>GTA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)																																			SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780992G>A|g.chr11:88780993G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.48_49delinsAT	11.37:g.88780992_88780993delinsAT	ENSP00000306138:p.Arg17Cys					GRM5_uc009yvm.2_Missense_Mutation_p.R17C|GRM5_uc009yvn.1_Missense_Mutation_p.R17C|GRM5_uc009yvm.2_Silent_p.V16V|GRM5_uc009yvn.1_Silent_p.V16V	p.R17C|p.V16V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	249|248	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	17|16					Q6J164	Missense_Mutation|Silent	SNP	ENST00000305447.4	37	c.49C>T|c.48C>A	CCDS44694.1																																																																																				PASS	0.470	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		18	67|66	18	66	---	---	---	---
ANKK1	255239	broad.mit.edu	37	11	113266892	113266892	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:113266892C>T	ENST00000303941.3	+	5	880	c.786C>T	c.(784-786)gaC>gaT	p.D262D		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D262D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGATGGTGGACCTGATGAAAC	0.597																																						uc001pny.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|stomach(1)|ovary(1)|breast(1)	8						c.(784-786)GAC>GAT		ankyrin repeat and kinase domain containing 1							85.0	91.0	89.0					11																	113266892		2009	4167	6176	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266892C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.786C>T	11.37:g.113266892C>T							p.D262D	NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	880	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	262			Protein kinase.			Silent	SNP	ENST00000303941.3	37	c.786C>T	CCDS44734.1																																																																																				PASS	0.597	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		20	76	20	76	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114442168	114442168	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:114442168G>A	ENST00000375478.3	-	6	1307	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	NXPE4_ENST00000424261.2_Missense_Mutation_p.S92F	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	376						extracellular vesicular exosome (GO:0070062)		p.S376F(1)									CAATTTTCCAGATTCATGCAG	0.373																																						uc001ppc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1126-1128)TCT>TTT		hypothetical protein LOC54827 isoform 1							200.0	174.0	182.0					11																	114442168		1902	4128	6030	SO:0001583	missense	54827					extracellular region		g.chr11:114442168G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1127C>T	11.37:g.114442168G>A	ENSP00000364627:p.Ser376Phe					FAM55D_uc001ppd.2_Missense_Mutation_p.S92F	p.S376F	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	6	1308	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	376					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1127C>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966633	0.18659	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.18338	2.22;2.22	5.44	-0.885	0.10593	.	1.162740	0.06377	N	0.714602	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.37009	-0.9724	10	0.07990	T	0.79	.	1.1259	0.01735	0.4303:0.1526:0.2612:0.1559	.	376	Q6UWF7	FA55D_HUMAN	F	92;376	ENSP00000401503:S92F;ENSP00000364627:S376F	ENSP00000364627:S376F	S	-	2	0	FAM55D	113947378	0.000000	0.05858	0.046000	0.18839	0.986000	0.74619	-0.731000	0.04909	0.154000	0.19237	0.609000	0.83330	TCT		PASS	0.373	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		69	224	69	224	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119025563	119025563	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:119025563T>C	ENST00000449422.2	+	6	812	c.624T>C	c.(622-624)cgT>cgC	p.R208R	ABCG4_ENST00000307417.3_Silent_p.R208R|ABCG4_ENST00000531739.1_Silent_p.R208R	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	208	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R208R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGAGGAAGCGTCTGGCCATCG	0.627																																						uc001pvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(622-624)CGT>CGC		ATP-binding cassette, subfamily G, member 4							129.0	119.0	122.0					11																	119025563		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119025563T>C	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.624T>C	11.37:g.119025563T>C						ABCG4_uc009zar.2_Silent_p.R208R	p.R208R	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	960	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	208			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.624T>C	CCDS8415.1																																																																																				PASS	0.627	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		43	114	43	114	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810676	123810676	+	Missense_Mutation	SNP	T	T	C	rs201130201	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:123810676T>C	ENST00000307033.2	+	1	427	c.353T>C	c.(352-354)aTg>aCg	p.M118T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M118T(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		CTGACTGTCATGGCGTATGAC	0.517													T|||	2	0.000399361	0.0	0.0	5008	,	,		21605	0.002		0.0	False		,,,				2504	0.0					uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)ATG>ACG		olfactory receptor, family 4, subfamily D,							137.0	114.0	122.0					11																	123810676		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810676T>C	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.353T>C	11.37:g.123810676T>C	ENSP00000305970:p.Met118Thr						p.M118T	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	353	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	118			Helical; Name=3; (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.353T>C	CCDS31699.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	20.7	4.029985	0.75504	.	.	ENSG00000171014	ENST00000307033	T	0.01145	5.27	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.10465	0.0256	M	0.93241	3.395	0.48762	D	0.999707	D	0.71674	0.998	D	0.70935	0.971	T	0.00715	-1.1597	10	0.87932	D	0	-21.7369	15.2581	0.73601	0.0:0.0:0.0:1.0	.	118	Q8NGN0	OR4D5_HUMAN	T	118	ENSP00000305970:M118T	ENSP00000305970:M118T	M	+	2	0	OR4D5	123315886	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.811000	0.86092	2.082000	0.62665	0.533000	0.62120	ATG		PASS	0.517	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		26	94	26	94	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893785	123893785	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:123893785C>A	ENST00000375024.1	+	1	66	c.66C>A	c.(64-66)gaC>gaA	p.D22E		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D22D(2)|p.D22E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		CAGGGCTGGACGCCCCACTCT	0.587																																						uc010sad.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)		prostate(1)|lung(1)|endometrium(1)	skin(2)	2						c.(64-66)GAC>GAA		olfactory receptor, family 10, subfamily G,							203.0	192.0	196.0					11																	123893785		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893785C>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.66C>A	11.37:g.123893785C>A	ENSP00000364164:p.Asp22Glu						p.D22E	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	66	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.66C>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	C	0.549	-0.850394	0.02651	.	.	ENSG00000236981	ENST00000375024	T	0.00424	7.45	3.33	2.4	0.29515	.	0.495982	0.18008	N	0.154666	T	0.00109	0.0003	N	0.01086	-1.025	0.09310	N	1	B	0.11235	0.004	B	0.19148	0.024	T	0.42481	-0.9449	10	0.15066	T	0.55	.	1.7976	0.03065	0.2102:0.4636:0.2037:0.1225	.	22	Q8NGN4	O10G9_HUMAN	E	22	ENSP00000364164:D22E	ENSP00000364164:D22E	D	+	3	2	OR10G9	123398995	0.000000	0.05858	0.919000	0.36401	0.135000	0.20990	-0.715000	0.04997	1.854000	0.53819	0.655000	0.94253	GAC		PASS	0.587	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		55	173	55	173	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124761273	124761273	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:124761273G>A	ENST00000306534.3	-	12	2355	c.1870C>T	c.(1870-1872)Ctc>Ttc	p.L624F	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.L479F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	624					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L624F(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCTGCAGAGGCTGTCTGAG	0.642																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1870-1872)CTC>TTC		roundabout homolog 4, magic roundabout							30.0	33.0	32.0					11																	124761273		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761273G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1870C>T	11.37:g.124761273G>A	ENSP00000304945:p.Leu624Phe					ROBO4_uc010sas.1_Missense_Mutation_p.L479F|ROBO4_uc001qbh.2_Missense_Mutation_p.L514F|ROBO4_uc001qbi.2_Missense_Mutation_p.L182F|ROBO4_uc010sat.1_Missense_Mutation_p.L182F	p.L624F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2010	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	624					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1870C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379499	0.82682	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.70164	-0.46;-0.08	5.92	5.92	0.95590	.	0.000000	0.35207	N	0.003362	T	0.81133	0.4759	M	0.69823	2.125	0.39035	D	0.960029	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.994	T	0.83148	-0.0105	10	0.72032	D	0.01	.	15.8326	0.78769	0.0:0.0:1.0:0.0	.	624;514;624	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	F	624;514;479	ENSP00000304945:L624F;ENSP00000437129:L479F	ENSP00000304945:L624F	L	-	1	0	ROBO4	124266483	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.571000	0.60879	2.805000	0.96524	0.655000	0.94253	CTC		PASS	0.642	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		15	18	15	18	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124765457	124765457	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:124765457C>A	ENST00000306534.3	-	6	1417	c.932G>T	c.(931-933)gGa>gTa	p.G311V	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.G166V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	311	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G311V(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTGGAGGCCTCCAAGCTCTGC	0.652																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(931-933)GGA>GTA		roundabout homolog 4, magic roundabout							36.0	43.0	41.0					11																	124765457		2199	4294	6493	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765457C>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.932G>T	11.37:g.124765457C>A	ENSP00000304945:p.Gly311Val					ROBO4_uc010sas.1_Missense_Mutation_p.G166V|ROBO4_uc001qbh.2_Missense_Mutation_p.G201V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.G311V	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1072	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	311			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.932G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214713	0.58452	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.53206	0.63;0.63	4.72	3.81	0.43845	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.382194	0.19449	N	0.113973	T	0.46658	0.1404	L	0.29908	0.895	0.39550	D	0.96896	D;D	0.63880	0.989;0.993	P;P	0.58266	0.836;0.796	T	0.40021	-0.9585	10	0.36615	T	0.2	.	7.1508	0.25610	0.0:0.6849:0.2215:0.0936	.	201;311	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	V	311;201;166	ENSP00000304945:G311V;ENSP00000437129:G166V	ENSP00000304945:G311V	G	-	2	0	ROBO4	124270667	0.000000	0.05858	0.994000	0.49952	0.993000	0.82548	0.189000	0.17037	1.222000	0.43521	0.561000	0.74099	GGA		PASS	0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		28	69	28	69	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790636	133790636	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:133790636A>T	ENST00000321016.8	-	18	3214	c.2984T>A	c.(2983-2985)gTc>gAc	p.V995D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V995D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	995	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V451D(1)|p.V995D(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGACGACATGACGGAGCTCAG	0.652																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2983-2985)GTC>GAC		immunoglobulin superfamily, member 9B							28.0	32.0	30.0					11																	133790636		2028	4169	6197	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790636A>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2984T>A	11.37:g.133790636A>T	ENSP00000317980:p.Val995Asp						p.V995D	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3215	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	995			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2984T>A		.	.	.	.	.	.	.	.	.	.	a	14.19	2.461053	0.43736	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.70164	-0.13;-0.46	4.93	2.64	0.31445	.	0.184196	0.26166	N	0.025944	T	0.45875	0.1364	N	0.24115	0.695	0.46113	D	0.998879	P	0.44578	0.838	B	0.35413	0.202	T	0.47420	-0.9119	10	0.87932	D	0	.	8.6334	0.33933	0.8406:0.0:0.1594:0.0	.	995	Q9UPX0	TUTLB_HUMAN	D	995;837	ENSP00000317980:V995D;ENSP00000436552:V837D	ENSP00000317980:V995D	V	-	2	0	IGSF9B	133295846	1.000000	0.71417	0.455000	0.27031	0.605000	0.37080	3.957000	0.56730	0.730000	0.32425	-0.429000	0.05907	GTC		PASS	0.652	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		10	17	10	17	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790808	133790808	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:133790808C>T	ENST00000321016.8	-	18	3042	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E938K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	938	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.E938K(1)|p.E394K(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGGGCCCTCCAGCCCGCGG	0.692																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2812-2814)GAG>AAG		immunoglobulin superfamily, member 9B							23.0	28.0	27.0					11																	133790808		1857	4047	5904	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790808C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2812G>A	11.37:g.133790808C>T	ENSP00000317980:p.Glu938Lys						p.E938K	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3043	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	938			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2812G>A		.	.	.	.	.	.	.	.	.	.	C	15.03	2.712409	0.48517	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.70164	-0.14;-0.46	4.03	3.09	0.35607	.	0.170152	0.27881	N	0.017462	T	0.51312	0.1667	L	0.27053	0.805	0.39012	D	0.959574	B	0.26081	0.141	B	0.22880	0.042	T	0.51616	-0.8683	10	0.45353	T	0.12	.	11.581	0.50891	0.0:0.8195:0.1805:0.0	.	938	Q9UPX0	TUTLB_HUMAN	K	938;780	ENSP00000317980:E938K;ENSP00000436552:E780K	ENSP00000317980:E938K	E	-	1	0	IGSF9B	133296018	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.120000	0.50430	0.877000	0.35895	0.561000	0.74099	GAG		PASS	0.692	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		20	24	20	24	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134180992	134180992	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr11:134180992C>A	ENST00000431683.2	+	13	1215	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	405					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.P405P(1)|p.P66P(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AACTTCCTCCCAAGGCTGTGT	0.612																																						uc009zdf.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1213-1215)CCC>CCA		galactosidase, beta 1 like 3							197.0	203.0	201.0					11																	134180992		2019	4175	6194	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134180992C>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1215C>A	11.37:g.134180992C>A						GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	p.P405P	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1575	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	405					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1215C>A	CCDS44780.1																																																																																				PASS	0.612	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		73	239	73	239	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	675285	675285	+	IGR	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:675285C>T	ENST00000266383.5	+	0	5068				NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000397265.3_Silent_p.K24K|NINJ2_ENST00000542920.1_5'UTR|NINJ2_ENST00000305108.4_Silent_p.K77K|NINJ2_ENST00000433832.2_5'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.K77K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCGCCACGCTCTTCTTGGTGG	0.602																																						uc001qil.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(229-231)AAG>AAA		ninjurin 2							95.0	68.0	77.0					12																	675285		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675285C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675285C>T						NINJ2_uc010sdr.1_5'UTR|NINJ2_uc010sds.1_Silent_p.K77K	p.K77K	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	322	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		31			Extracellular (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.231G>A	CCDS8504.1																																																																																				PASS	0.602	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	41	9	41	---	---	---	---
CLEC4C	170482	broad.mit.edu	37	12	7894077	7894077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:7894077G>A	ENST00000542353.1	-	4	665	c.175C>T	c.(175-177)Cga>Tga	p.R59*	CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.R59*|CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.R28*|CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.R28*	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	59					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R59*(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TGATACTCTCGTAACTTGGAC	0.423																																						uc001qtg.1																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(1)	3						c.(175-177)CGA>TGA		C-type lectin domain family 4, member C isoform							192.0	161.0	171.0					12																	7894077		2203	4300	6503	SO:0001587	stop_gained	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7894077G>A	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.175C>T	12.37:g.7894077G>A	ENSP00000440428:p.Arg59*					CLEC4C_uc001qth.1_Nonsense_Mutation_p.R59*|CLEC4C_uc001qti.1_Nonsense_Mutation_p.R28*	p.R59*	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	3	349	-			59			Extracellular (Potential).		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Nonsense_Mutation	SNP	ENST00000542353.1	37	c.175C>T	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	37	6.499228	0.97616	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	.	.	.	1.79	0.884	0.19182	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	4.1172	0.10088	0.2174:0.0:0.7826:0.0	.	.	.	.	X	59;28;28;59	.	ENSP00000346648:R28X	R	-	1	2	CLEC4C	7785344	0.019000	0.18553	0.017000	0.16124	0.415000	0.31203	1.490000	0.35573	0.312000	0.23038	0.514000	0.50259	CGA		PASS	0.423	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		33	106	33	106	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7984328	7984328	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:7984328C>T	ENST00000543909.1	-	9	972	c.213G>A	c.(211-213)acG>acA	p.T71T	SLC2A14_ENST00000539924.1_Silent_p.T86T|SLC2A14_ENST00000340749.5_Silent_p.T48T|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Silent_p.T71T|SLC2A14_ENST00000431042.2_Silent_p.T48T|SLC2A14_ENST00000542546.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	71					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.T71T(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TTGCCTTGTCCGTCAAAGTTT	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qtk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(211-213)ACG>ACA		glucose transporter 14							106.0	100.0	102.0					12																	7984328		2203	4300	6503	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984328C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.213G>A	12.37:g.7984328C>T			OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_uc001qtl.2_Silent_p.T48T|SLC2A14_uc001qtm.2_Silent_p.T48T|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.T71T|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.T86T	p.T71T	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	1006	-			71			Extracellular (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.213G>A	CCDS8585.1																																																																																				PASS	0.448	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		41	74	41	74	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028332	21028332	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:21028332T>C	ENST00000381545.3	+	9	1110	c.891T>C	c.(889-891)caT>caC	p.H297H	SLCO1B3_ENST00000261196.2_Silent_p.H297H|LST3_ENST00000540229.1_Silent_p.H297H|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.H297H	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	297					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.H297H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TATCATTGCATGTGCTGAAAA	0.308																																						uc001rek.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(889-891)CAT>CAC		solute carrier organic anion transporter family,							73.0	72.0	72.0					12																	21028332		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028332T>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.891T>C	12.37:g.21028332T>C						SLCO1B3_uc001rel.2_Silent_p.H297H|SLCO1B3_uc010sil.1_Silent_p.H297H|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.H122H	p.H297H	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			8	1017	+	Esophageal squamous(101;0.149)		297			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.891T>C	CCDS8684.1																																																																																				PASS	0.308	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		13	73	13	73	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21331510	21331510	+	Splice_Site	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:21331510G>T	ENST00000256958.2	+	6	578	c.482G>T	c.(481-483)gGt>gTt	p.G161V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	161					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G161V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATCTACATAGGTTGTTTAAAG	0.313																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(481-483)GGT>GTT		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						114.0	110.0	112.0					12																	21331510		2203	4300	6503	SO:0001630	splice_region_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21331510G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.482-1G>T	12.37:g.21331510G>T							p.G161V	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			6	586	+			161			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.482G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404106	0.25291	.	.	ENSG00000134538	ENST00000256958	T	0.38560	1.13	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.431691	0.22990	N	0.053206	T	0.51702	0.1690	L	0.56280	1.765	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.50750	-0.8791	9	.	.	.	.	5.2349	0.15441	0.187:0.1787:0.6343:0.0	.	161	Q9Y6L6	SO1B1_HUMAN	V	161	ENSP00000256958:G161V	.	G	+	2	0	SLCO1B1	21222777	0.003000	0.15002	0.989000	0.46669	0.193000	0.23685	-0.102000	0.10956	2.018000	0.59344	0.313000	0.20887	GGT		PASS	0.313	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Missense_Mutation	28	145	28	145	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29469880	29469880	+	Silent	SNP	G	G	A	rs142086556	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:29469880G>A	ENST00000536681.3	+	9	1308	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Silent_p.A354A|FAR2_ENST00000547116.1_Silent_p.A257A	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	354					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.A354A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ACTGGAATGCGGTCAGCCACC	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14883	0.0		0.0	False		,,,				2504	0.0					uc001ris.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1060-1062)GCG>GCA		fatty acyl CoA reductase 2		G		5,4401	9.9+/-24.2	0,5,2198	135.0	142.0	140.0		1062	-8.9	0.0	12	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	FAR2	NM_018099.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		354/516	29469880	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29469880G>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1062G>A	12.37:g.29469880G>A						FAR2_uc001rit.2_Silent_p.A354A|FAR2_uc009zjm.2_Silent_p.A257A|uc001riu.1_Intron	p.A354A	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			9	1209	+			354					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.1062G>A	CCDS8717.1																																																																																				PASS	0.493	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		46	267	46	267	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30867967	30867967	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:30867967C>T	ENST00000395805.2	-	14	2955	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R809Q|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R858Q|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R525Q|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R859Q	NM_001206856.1	NP_001193785.1			caprin family member 2									p.R859Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AACAGATCCCCGGCTATTGAC	0.438																																						uc001rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2575-2577)CGG>CAG		C1q domain containing 1 isoform 1							135.0	128.0	130.0					12																	30867967		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867967C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2408G>A	12.37:g.30867967C>T	ENSP00000379150:p.Arg803Gln					CAPRIN2_uc001rjf.1_Missense_Mutation_p.R655Q|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R526Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R809Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R525Q|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R858Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R803Q|CAPRIN2_uc001rjm.1_3'UTR	p.R859Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			15	3327	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		859						Missense_Mutation	SNP	ENST00000395805.2	37	c.2576G>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455085	0.84209	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.54	3.73	0.42828	.	0.065089	0.64402	N	0.000011	T	0.57140	0.2033	M	0.72353	2.195	0.38570	D	0.949924	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.996;0.998	T	0.62709	-0.6797	10	0.87932	D	0	-12.1419	11.8248	0.52261	0.0:0.8591:0.0:0.1409	.	803;858;859;809;858	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	Q	604;809;803;859;525;858	ENSP00000415407:R604Q;ENSP00000298892:R809Q;ENSP00000379150:R803Q;ENSP00000251071:R859Q;ENSP00000309785:R525Q;ENSP00000391479:R858Q	ENSP00000251071:R859Q	R	-	2	0	CAPRIN2	30759234	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	2.441000	0.44864	0.713000	0.32060	-0.140000	0.14226	CGG		PASS	0.438	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		67	89	67	89	---	---	---	---
IGFBP6	3489	broad.mit.edu	37	12	53495851	53495851	+	Missense_Mutation	SNP	G	G	T	rs202168277		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:53495851G>T	ENST00000301464.3	+	4	896	c.623G>T	c.(622-624)cGc>cTc	p.R208L	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Missense_Mutation_p.R206L|IGFBP6_ENST00000549628.1_3'UTR	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	208	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.R208L(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CAGGGGCAGCGCCGAGGTCCC	0.627																																					Esophageal Squamous(83;1656 1718 30141 34380)	uc001sbu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)CGC>CTC		insulin-like growth factor binding protein 6							56.0	54.0	55.0					12																	53495851		2203	4300	6503	SO:0001583	missense	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53495851G>T		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.623G>T	12.37:g.53495851G>T	ENSP00000301464:p.Arg208Leu					SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank	p.R208L	NM_002178	NP_002169	P24592	IBP6_HUMAN			4	689	+			208			Thyroglobulin type-1.		Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	c.623G>T	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333897	0.81801	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.63913	-0.07;-0.07	4.51	4.51	0.55191	Thyroglobulin type-1 (6);	0.213152	0.42548	D	0.000681	T	0.75140	0.3809	M	0.61703	1.905	0.42091	D	0.991294	D	0.89917	1.0	D	0.87578	0.998	T	0.77645	-0.2510	10	0.72032	D	0.01	-0.1325	12.9303	0.58282	0.0:0.0:1.0:0.0	.	208	P24592	IBP6_HUMAN	L	206;208	ENSP00000448953:R206L;ENSP00000301464:R208L	ENSP00000301464:R208L	R	+	2	0	IGFBP6	51782118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.182000	0.42556	2.495000	0.84180	0.655000	0.94253	CGC		PASS	0.627	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			11	90	11	90	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106903246	106903246	+	Silent	SNP	G	G	A	rs113017214		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:106903246G>A	ENST00000228347.4	+	28	3543	c.3321G>A	c.(3319-3321)ccG>ccA	p.P1107P	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.P1049P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1107					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P1107P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCCGTATTCCGTATGCCTGCA	0.463																																						uc001tlp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3319-3321)CCG>CCA		DNA-directed RNA polymerase III B isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	178.0	147.0	158.0		3147,3321	-11.1	0.0	12	dbSNP_132	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	1049/1076,1107/1134	106903246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903246G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3321G>A	12.37:g.106903246G>A						POLR3B_uc001tlq.2_Silent_p.P1049P	p.P1107P	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			28	3543	+			1107					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.3321G>A	CCDS9105.1																																																																																				PASS	0.463	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		5	150	5	150	---	---	---	---
TMEM263	90488	broad.mit.edu	37	12	107364965	107364965	+	Silent	SNP	T	T	A	rs372210855		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:107364965T>A	ENST00000280756.4	+	4	565	c.147T>A	c.(145-147)gcT>gcA	p.A49A	C12orf23_ENST00000551489.1_3'UTR|C12orf23_ENST00000551813.1_Silent_p.A49A|C12orf23_ENST00000547242.1_Silent_p.A49A|C12orf23_ENST00000548125.1_Silent_p.A49A|C12orf23_ENST00000550344.1_Silent_p.A49A|C12orf23_ENST00000547081.1_Silent_p.A49A	NM_152261.2	NP_689474.1	Q8WUH6	TM263_HUMAN		49						integral component of membrane (GO:0016021)		p.A49A(1)		endometrium(1)|lung(2)	3						CAAAGGGAGCTGTTGGTGCCA	0.498																																						uc001tmb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GCT>GCA		hypothetical protein LOC90488							174.0	160.0	165.0					12																	107364965		2203	4300	6503	SO:0001819	synonymous_variant	90488					integral to membrane		g.chr12:107364965T>A																												ENST00000280756.4:c.147T>A	12.37:g.107364965T>A						C12orf23_uc001tmc.2_Silent_p.A49A|C12orf23_uc001tmd.2_Silent_p.A49A	p.A49A	NM_152261	NP_689474	Q8WUH6	CL023_HUMAN			4	521	+			49			Helical; (Potential).		B3KMN9	Silent	SNP	ENST00000280756.4	37	c.147T>A	CCDS9110.1																																																																																				PASS	0.498	C12orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406857.1			39	136	39	136	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124242547	124242548	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:124242547_124242548TC>AT	ENST00000330342.3	+	20	2787_2788	c.2539_2540TC>AT	c.(2539-2541)TCa>ATa	p.S847I	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.S129I	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	847					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.S847L(1)|p.S847T(1)|p.S847I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TCTACTTTCATCAAAGTTCAAT	0.347																																						uc001ufr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2539-2541)TCA>ACA|c.(2539-2541)TCA>TTA		ATPase, H+ transporting, lysosomal V0 subunit																																				SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124242547T>A|g.chr12:124242548C>T	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	Exception_encountered	12.37:g.124242547_124242548delinsAT	ENSP00000332247:p.Ser847Ile						p.S847T|p.S847L	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	20	2787|2788	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		847			Cytoplasmic (Potential).		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2539T>A|c.2540C>T	CCDS9254.1																																																																																				PASS	0.347	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		12|13	73	12	73	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124395159	124395159	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:124395159T>A	ENST00000409039.3	+	58	9745	c.9720T>A	c.(9718-9720)ttT>ttA	p.F3240L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3240	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F1832L(1)|p.F3240L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCTGAAATTTGTTGAAGCTG	0.448																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(9718-9720)TTT>TTA		dynein, axonemal, heavy chain 10							100.0	104.0	103.0					12																	124395159		1926	4123	6049	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124395159T>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9720T>A	12.37:g.124395159T>A	ENSP00000386770:p.Phe3240Leu						p.F3240L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	58	9745	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3240			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9720T>A	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.78|16.78	3.217034|3.217034	0.58560|0.58560	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000409039|ENST00000540041	T|.	0.74209|.	-0.82|.	4.96|4.96	-8.79|-8.79	0.00820|0.00820	Dynein heavy chain, coiled coil stalk (1);|.	0.120647|.	0.56097|.	D|.	0.000027|.	T|.	0.79764|.	0.4502|.	M|M	0.90369|0.90369	3.11|3.11	0.50039|0.50039	D|D	0.999846|0.999846	D|.	0.63880|.	0.993|.	D|.	0.71414|.	0.973|.	D|.	0.86120|.	0.1568|.	10|.	0.87932|.	D|.	0|.	.|.	16.8865|16.8865	0.86077|0.86077	0.0:0.2187:0.0:0.7813|0.0:0.2187:0.0:0.7813	.|.	3240|.	Q8IVF4|.	DYH10_HUMAN|.	L|X	3240|168	ENSP00000386770:F3240L|.	ENSP00000386770:F3240L|.	F|L	+|+	3|2	2|0	DNAH10|DNAH10	122961112|122961112	0.952000|0.952000	0.32445|0.32445	0.112000|0.112000	0.21494|0.21494	0.262000|0.262000	0.26303|0.26303	0.007000|0.007000	0.13174|0.13174	-1.684000|-1.684000	0.01443|0.01443	-0.959000|-0.959000	0.02639|0.02639	TTT|TTG		PASS	0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			27	88	27	88	---	---	---	---
BRI3BP	140707	broad.mit.edu	37	12	125497114	125497114	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:125497114G>T	ENST00000341446.8	+	2	339	c.248G>T	c.(247-249)gGa>gTa	p.G83V		NM_080626.5	NP_542193.3			BRI3 binding protein									p.G83V(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TTTGTGCTGGGAGTGGATATG	0.498																																						uc001uha.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)GGA>GTA		BRI3-binding protein							385.0	347.0	360.0					12																	125497114		2203	4300	6503	SO:0001583	missense	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125497114G>T	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.248G>T	12.37:g.125497114G>T	ENSP00000340761:p.Gly83Val						p.G83V	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	2	391	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		83						Missense_Mutation	SNP	ENST00000341446.8	37	c.248G>T	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042015	0.55003	.	.	ENSG00000184992	ENST00000341446	.	.	.	4.95	4.95	0.65309	.	0.051949	0.85682	D	0.000000	T	0.74673	0.3747	L	0.55990	1.75	0.80722	D	1	D	0.67145	0.996	D	0.65323	0.934	T	0.77965	-0.2389	9	0.87932	D	0	-4.1798	17.7697	0.88487	0.0:0.0:1.0:0.0	.	83	Q8WY22	BRI3B_HUMAN	V	83	.	ENSP00000340761:G83V	G	+	2	0	BRI3BP	124063067	1.000000	0.71417	0.872000	0.34217	0.265000	0.26407	6.145000	0.71769	2.281000	0.76405	0.491000	0.48974	GGA		PASS	0.498	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		36	210	36	210	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599084	29599084	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:29599084C>A	ENST00000431530.3	+	1	337	c.279C>A	c.(277-279)ggC>ggA	p.G93G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	83						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.G93G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTTCAGGGCTTTGGGAAAG	0.453																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)GGC>GGA		hypothetical protein LOC23281 isoform a							32.0	31.0	32.0					13																	29599084		1808	4073	5881	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599084C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.279C>A	13.37:g.29599084C>A							p.G93G	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	337	+			83					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.279C>A	CCDS45022.1																																																																																				PASS	0.453	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		10	22	10	22	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32653058	32653058	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:32653058C>T	ENST00000380250.3	+	2	654	c.158C>T	c.(157-159)cCc>cTc	p.P53L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	53						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P53L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCATGCTACCCATCAATGTG	0.488																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(157-159)CCC>CTC		furry homolog							250.0	251.0	250.0					13																	32653058		1980	4156	6136	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32653058C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.158C>T	13.37:g.32653058C>T	ENSP00000369600:p.Pro53Leu					FRY_uc010tdw.1_RNA	p.P53L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	2	654	+		Lung SC(185;0.0271)	53					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.158C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298738	0.95574	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.23147	1.92	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	M	0.63428	1.95	0.80722	D	1	B	0.26363	0.147	B	0.22601	0.04	T	0.04216	-1.0968	10	0.25751	T	0.34	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	53	Q5TBA9	FRY_HUMAN	L	53;50	ENSP00000369600:P53L	ENSP00000369600:P53L	P	+	2	0	FRY	31551058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.207000	0.77899	2.770000	0.95276	0.655000	0.94253	CCC		PASS	0.488	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		207	164	207	164	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208780	58208780	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:58208780C>T	ENST00000377918.3	+	1	2126	c.2100C>T	c.(2098-2100)caC>caT	p.H700H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	700					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H700H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGAGCAGCACCACTGGGACA	0.617																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2098-2100)CAC>CAT		protocadherin 17 precursor							73.0	71.0	72.0					13																	58208780		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208780C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2100C>T	13.37:g.58208780C>T						PCDH17_uc010aec.1_Silent_p.H700H	p.H700H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2992	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	700			Extracellular (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2100C>T	CCDS31986.1																																																																																				PASS	0.617	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		67	41	67	41	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92380825	92380825	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:92380825C>G	ENST00000377067.3	+	4	1432	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	354					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Q354E(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AACACCCACACAAAGCCCCCG	0.418																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1060-1062)CAA>GAA		glypican 5 precursor							121.0	125.0	124.0					13																	92380825		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380825C>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1060C>G	13.37:g.92380825C>G	ENSP00000366267:p.Gln354Glu						p.Q354E	NM_004466	NP_004457	P78333	GPC5_HUMAN			4	1426	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	354					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1060C>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168184	0.38315	.	.	ENSG00000179399	ENST00000377067	T	0.48201	0.82	5.88	5.03	0.67393	.	0.497453	0.23273	N	0.049995	T	0.45955	0.1368	L	0.55103	1.725	0.28709	N	0.903638	B	0.11235	0.004	B	0.14023	0.01	T	0.47983	-0.9074	10	0.62326	D	0.03	-3.6874	14.4935	0.67667	0.0:0.8536:0.1464:0.0	.	354	P78333	GPC5_HUMAN	E	354	ENSP00000366267:Q354E	ENSP00000366267:Q354E	Q	+	1	0	GPC5	91178826	0.960000	0.32886	1.000000	0.80357	0.993000	0.82548	1.586000	0.36611	1.469000	0.48083	0.557000	0.71058	CAA		PASS	0.418	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		65	99	65	99	---	---	---	---
KDELC1	79070	broad.mit.edu	37	13	103440247	103440247	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:103440247T>C	ENST00000376004.4	-	8	1656	c.1320A>G	c.(1318-1320)caA>caG	p.Q440Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	440						endoplasmic reticulum lumen (GO:0005788)		p.Q440Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGCAAATTCTTGTCCTGCTT	0.363																																						uc001vpq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1318-1320)CAA>CAG		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							105.0	98.0	100.0					13																	103440247		2202	4299	6501	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103440247T>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1320A>G	13.37:g.103440247T>C						KDELC1_uc001vpr.3_Silent_p.Q221Q	p.Q440Q	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			8	1704	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		440					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.1320A>G	CCDS9504.1																																																																																				PASS	0.363	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			54	55	54	55	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518154	108518154	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:108518154C>G	ENST00000375915.2	-	1	929	c.791G>C	c.(790-792)tGc>tCc	p.C264S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	264						integral component of membrane (GO:0016021)		p.C264S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGCCTCGACGCACTGCCTGCA	0.522																																						uc001vql.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(790-792)TGC>TCC		family with sequence similarity 155, member A							143.0	125.0	131.0					13																	108518154		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518154C>G	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.791G>C	13.37:g.108518154C>G	ENSP00000365080:p.Cys264Ser						p.C264S	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1307	-			264					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.791G>C	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263349	0.59431	.	.	ENSG00000204442	ENST00000375915	T	0.12147	2.71	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	L	0.54323	1.7	0.51767	D	0.999935	D	0.60575	0.988	P	0.60236	0.871	T	0.00351	-1.1796	10	0.72032	D	0.01	.	19.2604	0.93966	0.0:1.0:0.0:0.0	.	264	B1AL88	F155A_HUMAN	S	264	ENSP00000365080:C264S	ENSP00000365080:C264S	C	-	2	0	FAM155A	107316155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.435000	0.80391	2.793000	0.96121	0.563000	0.77884	TGC		PASS	0.522	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		46	53	46	53	---	---	---	---
CARKD	55739	broad.mit.edu	37	13	111290756	111290756	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr13:111290756G>T	ENST00000309957.2	+	10	1075	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	CARKD_ENST00000458711.2_Missense_Mutation_p.A178S|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.A199S	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing									p.R354L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CGCGTTTGGCGCCTGCTCTCT	0.687																																						uc001vrb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(925-927)GCC>TCC		RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;							51.0	56.0	54.0					13																	111290756		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111290756G>T	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.1061G>T	13.37:g.111290756G>T	ENSP00000311984:p.Arg354Leu					CARKD_uc010tjj.1_Missense_Mutation_p.A291S|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.A199S|CARKD_uc010tjl.1_Missense_Mutation_p.A178S|CARKD_uc001vrc.2_Missense_Mutation_p.R354L	p.A309S			Q8IW45	CARKD_HUMAN			10	939	+			309			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.925G>T	CCDS9513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.71|18.71	3.681759|3.681759	0.68042|0.68042	.|.	.|.	ENSG00000213995|ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607|ENST00000309957	T;T|T	0.43294|0.23754	0.95;0.95|1.89	5.4|5.4	5.4|5.4	0.78164|0.78164	Uncharacterised domain, carbohydrate kinase-related (3);|.	.|1.003860	.|0.08010	.|N	.|0.990243	T|T	0.27663|0.27663	0.0680|0.0680	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D;D|B	0.89917|0.30634	1.0;0.975;0.977;0.977|0.288	D;P;P;P|B	0.75484|0.26094	0.986;0.903;0.864;0.904|0.066	T|T	0.12656|0.12656	-1.0539|-1.0539	8|9	0.46703|0.44086	T|T	0.11|0.13	0.4144|0.4144	19.1739|19.1739	0.93594|0.93594	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	178;199;291;309|354	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45|Q8IW45-2	.;.;.;CARKD_HUMAN|.	S|L	178;199;291|354	ENSP00000412789:A178S;ENSP00000413191:A199S|ENSP00000311984:R354L	ENSP00000413191:A199S|ENSP00000311984:R354L	A|R	+|+	1|2	0|0	CARKD|CARKD	110088757|110088757	1.000000|1.000000	0.71417|0.71417	0.429000|0.429000	0.26710|0.26710	0.013000|0.013000	0.08279|0.08279	9.256000|9.256000	0.95535|0.95535	2.521000|2.521000	0.84997|0.84997	0.561000|0.561000	0.74099|0.74099	GCC|CGC		PASS	0.687	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		35	30	35	30	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553647	19553647	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:19553647G>T	ENST00000409832.3	+	1	283	c.231G>T	c.(229-231)aaG>aaT	p.K77N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	77								p.K77N(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGCAGCAAGAGCAACGTGG	0.592																																						uc001vuz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)AAG>AAT		POTE ankyrin domain family, member G							107.0	138.0	128.0					14																	19553647		1934	3932	5866	SO:0001583	missense	404785							g.chr14:19553647G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.231G>T	14.37:g.19553647G>T	ENSP00000386971:p.Lys77Asn					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.K77N	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	283	+			77					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.231G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.924	0.540190	0.13250	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.34	0.34	0.15985	.	.	.	.	.	T	0.22322	0.0538	L	0.43923	1.385	0.09310	N	1	B	0.28713	0.22	B	0.24006	0.05	T	0.18903	-1.0322	8	0.45353	T	0.12	.	.	.	.	.	77	Q6S5H5	POTEG_HUMAN	N	77	ENSP00000386971:K77N	ENSP00000386971:K77N	K	+	3	2	POTEG	18623647	0.006000	0.16342	0.012000	0.15200	0.011000	0.07611	1.097000	0.30988	0.410000	0.25675	0.410000	0.27636	AAG		PASS	0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		56	200	56	200	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:20295661C>T	ENST00000315947.1	+	1	54	c.54C>T	c.(52-54)acC>acT	p.T18T	OR4N2_ENST00000568211.1_Silent_p.T18T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T18T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383																																						uc010tkv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(52-54)ACC>ACT		olfactory receptor, family 4, subfamily N,							153.0	169.0	163.0					14																	20295661		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295661C>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.54C>T	14.37:g.20295661C>T							p.T18T	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	54	+	all_cancers(95;0.00108)		18			Extracellular (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.54C>T	CCDS32022.1																																																																																				PASS	0.383	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			55	237	55	237	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404461	20404461	+	Silent	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:20404461G>C	ENST00000285600.4	+	1	695	c.636G>C	c.(634-636)ctG>ctC	p.L212L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L212L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCTGTTTCCTGGCTTTAATTA	0.448																																						uc001vwj.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(634-636)CTG>CTC		olfactory receptor, family 4, subfamily K,							141.0	138.0	139.0					14																	20404461		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404461G>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.636G>C	14.37:g.20404461G>C							p.L212L	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	636	+	all_cancers(95;0.00108)		212			Helical; Name=5; (Potential).		B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.636G>C	CCDS32025.1																																																																																				PASS	0.448	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			19	101	19	101	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21876521	21876522	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:21876521_21876522CC>AA	ENST00000557364.1	-	13	2942_2943	c.2679_2680GG>TT	c.(2677-2682)ctGGcc>ctTTcc	p.A894S	CHD8_ENST00000430710.3_Missense_Mutation_p.A615S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.A894S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	894	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.A894S(2)|p.L893L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCCTGCTGGCCAGACTGCCAT	0.45																																						uc001was.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(1843-1845)GCC>TCC|c.(1840-1842)CTG>CTT		chromodomain helicase DNA binding protein 8																																				SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876521C>A|g.chr14:21876522C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2679_2680delinsAA	14.37:g.21876521_21876522delinsAA	ENSP00000451601:p.Ala894Ser					CHD8_uc001war.1_Missense_Mutation_p.A511S|CHD8_uc001wav.1_Missense_Mutation_p.A57S|CHD8_uc001war.1_Silent_p.L510L|CHD8_uc001wav.1_Silent_p.L56L	p.A615S|p.L614L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	1937|1936	-	all_cancers(95;0.00121)		894|893			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation|Silent	SNP	ENST00000557364.1	37	c.1843G>T|c.1842G>T	CCDS53885.1																																																																																				PASS	0.450	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		31|32	84|85	31	84	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21876595	21876595	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:21876595G>A	ENST00000557364.1	-	13	2869	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	CHD8_ENST00000430710.3_Missense_Mutation_p.S590F|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.S869F			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	869	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.S869F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTAATTGTGGACAGTGGGGC	0.448																																						uc001was.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(1768-1770)TCC>TTC		chromodomain helicase DNA binding protein 8							106.0	102.0	103.0					14																	21876595		1958	4162	6120	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876595G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2606C>T	14.37:g.21876595G>A	ENSP00000451601:p.Ser869Phe					CHD8_uc001war.1_Missense_Mutation_p.S486F|CHD8_uc001wav.1_Missense_Mutation_p.S32F	p.S590F	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	1863	-	all_cancers(95;0.00121)		869			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1769C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312800	0.81358	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.94376	-3.41;-3.41;-3.41	5.38	4.48	0.54585	DEAD-like helicase (2);SNF2-related (1);	0.060992	0.64402	D	0.000002	D	0.98223	0.9412	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99505	1.0954	10	0.87932	D	0	-14.6599	15.0119	0.71555	0.0:0.1435:0.8565:0.0	.	869;590	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	F	590;869;589;869	ENSP00000406288:S590F;ENSP00000382863:S869F;ENSP00000451601:S869F	ENSP00000262707:S589F	S	-	2	0	CHD8	20946435	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.657000	0.98554	1.463000	0.47967	0.650000	0.86243	TCC		PASS	0.448	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		35	113	35	113	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23900812	23900812	+	Missense_Mutation	SNP	G	G	C	rs202141819		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:23900812G>C	ENST00000355349.3	-	8	876	c.714C>G	c.(712-714)aaC>aaG	p.N238K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	238	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.N238K(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGAGTTGTCGTTCCGGACGG	0.597																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(712-714)AAC>AAG		myosin, heavy chain 7, cardiac muscle, beta							182.0	170.0	174.0					14																	23900812		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900812G>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.714C>G	14.37:g.23900812G>C	ENSP00000347507:p.Asn238Lys						p.N238K	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	8	820	-	all_cancers(95;2.54e-05)		238			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.714C>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621079	0.46736	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98221	-4.8	3.47	-3.84	0.04256	Myosin head, motor domain (3);	.	.	.	.	D	0.99390	0.9785	H	0.99979	5.18	0.52501	D	0.999955	D	0.63046	0.992	D	0.76575	0.988	D	0.97297	0.9928	9	0.72032	D	0.01	.	9.661	0.39954	0.5946:0.0:0.4054:0.0	.	238	P12883	MYH7_HUMAN	K	238	ENSP00000347507:N238K	ENSP00000347507:N238K	N	-	3	2	MYH7	22970652	0.039000	0.19947	0.975000	0.42487	0.732000	0.41865	-0.404000	0.07205	-0.966000	0.03587	-2.125000	0.00346	AAC		PASS	0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		56	189	56	189	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52478332	52478332	+	Silent	SNP	G	G	T	rs374865918	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:52478332G>T	ENST00000216286.5	-	17	3489	c.3490C>A	c.(3490-3492)Cgg>Agg	p.R1164R	NID2_ENST00000541773.1_Silent_p.R1063R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1164					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.R1164R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGATTGTCCGTCCAGCAACA	0.488																																						uc001wzo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3490-3492)CGG>AGG		nidogen 2 precursor							157.0	130.0	139.0					14																	52478332		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52478332G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3490C>A	14.37:g.52478332G>T						NID2_uc010tqs.1_Silent_p.R1116R|NID2_uc010tqt.1_Silent_p.R1164R	p.R1164R	NM_007361	NP_031387	Q14112	NID2_HUMAN			17	3724	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1164			LDL-receptor class B 1.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.3490C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089345	0.07097	.	.	ENSG00000087303	ENST00000556572	.	.	.	5.92	3.98	0.46160	.	.	.	.	.	T	0.69833	0.3155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70011	-0.4989	4	.	.	.	.	14.7325	0.69393	0.0:0.0:0.7375:0.2625	.	.	.	.	K	432	.	.	T	-	2	0	NID2	51548082	1.000000	0.71417	0.224000	0.23877	0.275000	0.26752	3.740000	0.55082	1.487000	0.48415	0.655000	0.94253	ACG		PASS	0.488	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			51	131	51	131	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65237682	65237682	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:65237682G>C	ENST00000389721.5	-	26	5751	c.5719C>G	c.(5719-5721)Cgc>Ggc	p.R1907G	SPTB_ENST00000556626.1_Missense_Mutation_p.R1907G|SPTB_ENST00000389720.3_Missense_Mutation_p.R1907G|SPTB_ENST00000389722.3_Missense_Mutation_p.R1907G|SPTB_ENST00000542895.1_Missense_Mutation_p.R1907G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1907					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.R1907G(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)		CTGAAGAAGCGGAATTTATCC	0.637																																						uc001xht.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(5719-5721)CGC>GGC		spectrin beta isoform b							57.0	58.0	58.0					14																	65237682		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65237682G>C		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.5719C>G	14.37:g.65237682G>C	ENSP00000374371:p.Arg1907Gly					SPTB_uc001xhr.2_Missense_Mutation_p.R1907G|SPTB_uc001xhs.2_Missense_Mutation_p.R1907G|SPTB_uc001xhu.2_Missense_Mutation_p.R1907G|SPTB_uc010aqi.2_Missense_Mutation_p.R568G	p.R1907G	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)	26	5773	-		all_lung(585;4.15e-09)	1907			Spectrin 16.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5719C>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694618	0.88830	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.79784	0.734;0.993;0.979	T	0.80999	-0.1131	10	0.87932	D	0	.	17.7319	0.88380	0.0:0.0:1.0:0.0	.	691;1907;1911	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	G	1911;1907;691;572;1907;1907;1907;1907	ENSP00000374372:R1907G;ENSP00000451324:R572G;ENSP00000451752:R1907G;ENSP00000374371:R1907G;ENSP00000443882:R1907G;ENSP00000374370:R1907G	ENSP00000334218:R691G	R	-	1	0	SPTB	64307435	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.835000	0.99442	2.541000	0.85698	0.462000	0.41574	CGC		PASS	0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			12	47	12	47	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69787472	69787472	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:69787472G>T	ENST00000337827.4	+	2	549	c.222G>T	c.(220-222)ctG>ctT	p.L74L	GALNT16_ENST00000448469.3_Silent_p.L74L|GALNT16_ENST00000553669.1_Silent_p.L74L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	74					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L74L(1)									AGGCCTACCTGTCGGCCAAGC	0.597																																						uc010aqu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(220-222)CTG>CTT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							94.0	90.0	92.0					14																	69787472		2203	4300	6503	SO:0001819	synonymous_variant	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69787472G>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.222G>T	14.37:g.69787472G>T						GALNTL1_uc001xla.1_Silent_p.L74L|GALNTL1_uc001xlb.1_Silent_p.L74L	p.L74L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	2	315	+			74			Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	c.222G>T	CCDS32107.1																																																																																				PASS	0.597	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		24	91	24	91	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71572105	71572105	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:71572105G>A	ENST00000304743.2	+	33	6695	c.6249G>A	c.(6247-6249)caG>caA	p.Q2083Q	PCNX_ENST00000238570.5_Silent_p.Q2011Q|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Silent_p.Q1972Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2083						integral component of membrane (GO:0016021)		p.Q2083Q(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCCTGGGCAGGGATCAGGAA	0.478																																						uc001xmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(6247-6249)CAG>CAA		pecanex-like 1							133.0	111.0	119.0					14																	71572105		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71572105G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6249G>A	14.37:g.71572105G>A						PCNX_uc010are.1_Silent_p.Q1972Q|PCNX_uc010arf.1_Silent_p.Q871Q|PCNX_uc001xmp.2_Silent_p.Q167Q	p.Q2083Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	33	6695	+			2083					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.6249G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.395202	0.01175	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.43	-0.747	0.11091	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.24039	N	0.996087	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	.	7.0954	0.25307	0.3908:0.0:0.4949:0.1142	.	.	.	.	K	1070	.	.	R	+	2	0	PCNX	70641858	1.000000	0.71417	0.027000	0.17364	0.115000	0.19883	0.718000	0.25866	-0.120000	0.11809	-0.150000	0.13652	AGG		PASS	0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		18	54	18	54	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088821	86088821	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:86088821C>T	ENST00000330753.4	+	2	1730	c.963C>T	c.(961-963)gtC>gtT	p.V321V	FLRT2_ENST00000554746.1_Silent_p.V321V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	321	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.V321V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTAAATGGGTCACAGAATGGC	0.478																																						uc001xvr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(961-963)GTC>GTT		fibronectin leucine rich transmembrane protein 2							158.0	167.0	164.0					14																	86088821		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088821C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.963C>T	14.37:g.86088821C>T						FLRT2_uc010atd.2_Silent_p.V321V	p.V321V	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1730	+			321			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.963C>T	CCDS9877.1																																																																																				PASS	0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			56	216	56	216	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088895	86088895	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:86088895G>T	ENST00000330753.4	+	2	1804	c.1037G>T	c.(1036-1038)cGg>cTg	p.R346L	FLRT2_ENST00000554746.1_Missense_Mutation_p.R346L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	346	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R346L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAACAAGTCCGGGGGATGGCC	0.517																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1036-1038)CGG>CTG		fibronectin leucine rich transmembrane protein 2							108.0	119.0	115.0					14																	86088895		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088895G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1037G>T	14.37:g.86088895G>T	ENSP00000332879:p.Arg346Leu					FLRT2_uc010atd.2_Missense_Mutation_p.R346L	p.R346L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1804	+			346			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1037G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937399	0.73557	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02395	4.31;4.31	6.07	6.07	0.98685	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.69358	2.11	0.58432	D	0.999998	D	0.60575	0.988	P	0.55923	0.787	T	0.00009	-1.2471	10	0.87932	D	0	-19.2567	20.6439	0.99570	0.0:0.0:1.0:0.0	.	346	O43155	FLRT2_HUMAN	L	346	ENSP00000332879:R346L;ENSP00000451050:R346L	ENSP00000332879:R346L	R	+	2	0	FLRT2	85158648	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.061000	0.89467	2.884000	0.98904	0.655000	0.94253	CGG		PASS	0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			54	172	54	172	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089605	86089605	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:86089605C>T	ENST00000330753.4	+	2	2514	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R583W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	583					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R583W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAACCGGGGCCGGCGGAAAGA	0.502																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1747-1749)CGG>TGG		fibronectin leucine rich transmembrane protein 2							82.0	90.0	87.0					14																	86089605		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089605C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1747C>T	14.37:g.86089605C>T	ENSP00000332879:p.Arg583Trp					FLRT2_uc010atd.2_Missense_Mutation_p.R583W	p.R583W	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2514	+			583			Cytoplasmic (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1747C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096101	0.56075	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.63417	-0.04;-0.04	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.79727	-0.1682	10	0.87932	D	0	-18.9898	17.0036	0.86387	0.1285:0.8715:0.0:0.0	.	583	O43155	FLRT2_HUMAN	W	583;583;236	ENSP00000332879:R583W;ENSP00000451050:R583W	ENSP00000332879:R583W	R	+	1	2	FLRT2	85159358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.397000	0.34543	1.611000	0.50210	0.655000	0.94253	CGG		PASS	0.502	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			46	133	46	133	---	---	---	---
FBLN5	10516	broad.mit.edu	37	14	92347671	92347671	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:92347671G>C	ENST00000342058.4	-	9	1547	c.954C>G	c.(952-954)atC>atG	p.I318M	FBLN5_ENST00000556154.1_Missense_Mutation_p.I323M|FBLN5_ENST00000267620.10_Missense_Mutation_p.I359M	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	318	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.I318M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CCTCACAGCGGATGGGGTCAA	0.527																																						uc001xzx.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(952-954)ATC>ATG		fibulin 5 precursor							100.0	82.0	88.0					14																	92347671		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92347671G>C	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.954C>G	14.37:g.92347671G>C	ENSP00000345008:p.Ile318Met					FBLN5_uc010aud.2_Missense_Mutation_p.I323M|FBLN5_uc010aue.2_Missense_Mutation_p.I359M	p.I318M	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			9	1427	-		all_cancers(154;0.0722)	318			EGF-like 6; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.954C>G	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685887	0.29962	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.83335	-1.68;-1.71;-1.66	5.5	3.65	0.41850	.	0.224065	0.39475	N	0.001351	T	0.72195	0.3430	L	0.42245	1.32	0.38182	D	0.939653	P;B;B	0.43633	0.813;0.207;0.019	B;B;B	0.39876	0.312;0.082;0.009	T	0.72603	-0.4243	10	0.46703	T	0.11	.	3.1699	0.06549	0.1572:0.1159:0.5557:0.1711	.	359;323;318	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	M	359;318;323	ENSP00000267620:I359M;ENSP00000345008:I318M;ENSP00000451982:I323M	ENSP00000267620:I415M	I	-	3	3	FBLN5	91417424	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	0.670000	0.25157	1.461000	0.47929	0.655000	0.94253	ATC		PASS	0.527	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			18	57	18	57	---	---	---	---
GOLGA5	9950	broad.mit.edu	37	14	93301991	93301991	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:93301991G>T	ENST00000163416.2	+	11	2289	c.2033G>T	c.(2032-2034)aGt>aTt	p.S678I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S678I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	678					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.S678I(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AAAGCTGCTAGTTCAATTGAT	0.413			T	RET	papillary thyroid																																	uc001yaz.1				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2032-2034)AGT>ATT		Golgi autoantigen, golgin subfamily a, 5							83.0	67.0	73.0					14																	93301991		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93301991G>T	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2033G>T	14.37:g.93301991G>T	ENSP00000163416:p.Ser678Ile					GOLGA5_uc001yba.1_Missense_Mutation_p.S75I	p.S678I	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	11	2215	+		all_cancers(154;0.0934)	678			Cytoplasmic (Potential).		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.2033G>T	CCDS9905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.88|19.88	3.908889|3.908889	0.72868|0.72868	.|.	.|.	ENSG00000066455|ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315|ENST00000554700	T;T|.	0.53423|.	0.62;0.62|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.56097|.	D|.	0.000035|.	T|T	0.73729|0.73729	0.3624|0.3624	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.51653|.	0.947|.	P|.	0.56751|.	0.805|.	T|T	0.72730|0.72730	-0.4205|-0.4205	10|5	0.46703|.	T|.	0.11|.	-18.4973|-18.4973	15.3032|15.3032	0.73972|0.73972	0.0:0.1394:0.8606:0.0|0.0:0.1394:0.8606:0.0	.|.	678|.	Q8TBA6|.	GOGA5_HUMAN|.	I|F	678;678;587|104	ENSP00000163416:S678I;ENSP00000348252:S678I|.	ENSP00000163416:S678I|.	S|V	+|+	2|1	0|0	GOLGA5|GOLGA5	92371744|92371744	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.989000|0.989000	0.77384|0.77384	6.327000|6.327000	0.72910|0.72910	2.674000|2.674000	0.91012|0.91012	0.650000|0.650000	0.86243|0.86243	AGT|GTT		PASS	0.413	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			13	30	13	30	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100344847	100344847	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:100344847G>A	ENST00000262233.6	+	4	548	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Missense_Mutation_p.E156K|EML1_ENST00000327921.9_Missense_Mutation_p.E125K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	137					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.E156K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGCTCTTCTGAACGAGTGTC	0.458																																						uc001ygs.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(409-411)GAA>AAA		echinoderm microtubule associated protein like 1							113.0	112.0	112.0					14																	100344847		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100344847G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.409G>A	14.37:g.100344847G>A	ENSP00000262233:p.Glu137Lys					EML1_uc010avt.1_Missense_Mutation_p.E124K|EML1_uc010tww.1_Missense_Mutation_p.E125K|EML1_uc001ygq.2_Missense_Mutation_p.E156K|EML1_uc001ygr.2_Missense_Mutation_p.E156K	p.E137K	NM_004434	NP_004425	O00423	EMAL1_HUMAN			4	478	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	137					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.409G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343974	0.61073	.	.	ENSG00000066629	ENST00000554479;ENST00000555145;ENST00000327921;ENST00000556835;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714;ENST00000557741	T;T;T;T;T	0.33216	2.83;1.77;1.68;1.77;1.42	5.46	5.46	0.80206	.	0.150830	0.64402	D	0.000020	T	0.51753	0.1693	L	0.55743	1.74	0.58432	D	0.999999	D;D;B;D;D	0.76494	0.998;0.998;0.105;0.999;0.998	D;D;B;D;D	0.80764	0.991;0.986;0.067;0.994;0.987	T	0.33675	-0.9859	10	0.27785	T	0.31	-33.0962	19.2991	0.94136	0.0:0.0:1.0:0.0	.	125;125;137;156;156	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	K	124;143;125;106;137;156;156;106;22	ENSP00000451346:E124K;ENSP00000327384:E125K;ENSP00000262233:E137K;ENSP00000334314:E156K;ENSP00000452089:E106K	ENSP00000262233:E137K	E	+	1	0	EML1	99414600	1.000000	0.71417	0.062000	0.19696	0.381000	0.30169	7.014000	0.76380	2.554000	0.86153	0.655000	0.94253	GAA		PASS	0.458	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		39	86	39	86	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410523	105410523	+	Silent	SNP	C	C	A	rs368041963		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:105410523C>A	ENST00000333244.5	-	7	11384	c.11265G>T	c.(11263-11265)gcG>gcT	p.A3755A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3755						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.A3755A(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)			CTGTGACTTCCGCCTTGGAGA	0.607																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(11263-11265)GCG>GCT		AHNAK nucleoprotein 2							144.0	153.0	151.0					14																	105410523		1938	4117	6055	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105410523C>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.11265G>T	14.37:g.105410523C>A						AHNAK2_uc001ypx.2_Silent_p.A3655A	p.A3755A	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	11385	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3755					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11265G>T	CCDS45177.1																																																																																				PASS	0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		60	196	60	196	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412995	105412995	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:105412995C>A	ENST00000333244.5	-	7	8912	c.8793G>T	c.(8791-8793)gaG>gaT	p.E2931D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2931						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.E2931D(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)			GGGCCGTCACCTCCGCCTTGG	0.637																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(8791-8793)GAG>GAT		AHNAK nucleoprotein 2							126.0	141.0	136.0					14																	105412995		1915	4119	6034	SO:0001583	missense	113146					nucleus		g.chr14:105412995C>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.8793G>T	14.37:g.105412995C>A	ENSP00000353114:p.Glu2931Asp					AHNAK2_uc001ypx.2_Missense_Mutation_p.E2831D	p.E2931D	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	8913	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2931					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8793G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	2.117	-0.402274	0.04865	.	.	ENSG00000185567	ENST00000333244	T	0.00565	6.56	2.87	-2.97	0.05530	.	.	.	.	.	T	0.00468	0.0015	L	0.39898	1.24	0.09310	N	1	P	0.41041	0.736	B	0.43508	0.422	T	0.36720	-0.9736	9	0.09084	T	0.74	.	6.2697	0.20947	0.0:0.3135:0.1388:0.5477	.	2931	Q8IVF2	AHNK2_HUMAN	D	2931	ENSP00000353114:E2931D	ENSP00000353114:E2931D	E	-	3	2	AHNAK2	104484040	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.514000	0.02254	-1.154000	0.02825	-2.146000	0.00336	GAG		PASS	0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		60	172	60	172	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105860966	105860966	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:105860966A>C	ENST00000325438.8	+	24	3131	c.2627A>C	c.(2626-2628)cAc>cCc	p.H876P	PACS2_ENST00000447393.1_Missense_Mutation_p.H880P|PACS2_ENST00000551801.1_Missense_Mutation_p.H77P|PACS2_ENST00000551743.1_Missense_Mutation_p.H390P|PACS2_ENST00000547217.1_Missense_Mutation_p.H846P|PACS2_ENST00000430725.2_Missense_Mutation_p.H801P|PACS2_ENST00000458164.2_Missense_Mutation_p.H891P			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	876					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.H876P(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CACGTGAAGCACTTCCCCATC	0.652																																						uc001yqt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2626-2628)CAC>CCC		phosphofurin acidic cluster sorting protein 2							149.0	116.0	127.0					14																	105860966		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105860966A>C	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2627A>C	14.37:g.105860966A>C	ENSP00000321834:p.His876Pro					PACS2_uc001yqs.2_Missense_Mutation_p.H801P|PACS2_uc001yqv.2_Missense_Mutation_p.H880P|PACS2_uc001yqu.2_Missense_Mutation_p.H891P	p.H876P	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	24	2802	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	876					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2627A>C	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347924	0.82022	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	0.999;0.994;1.0;0.998	D;P;D;D	0.91635	0.99;0.905;0.999;0.988	T	0.68420	-0.5413	10	0.72032	D	0.01	-38.0221	12.2421	0.54549	1.0:0.0:0.0:0.0	.	880;891;876;877	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	P	801;876;891;880;846;390;77	ENSP00000393524:H801P;ENSP00000321834:H876P;ENSP00000399732:H891P;ENSP00000393559:H880P;ENSP00000449525:H846P;ENSP00000449254:H390P;ENSP00000447544:H77P	ENSP00000321834:H876P	H	+	2	0	PACS2	104932011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.151000	0.94674	1.631000	0.50456	0.533000	0.62120	CAC		PASS	0.652	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		32	86	32	86	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106318590	106318590	+	RNA	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:106318590C>G	ENST00000390559.2	-	0	1461							P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCGCTCACCTCCCCCTCTGCA	0.662																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							36.0	44.0	41.0					14																	106318590		2010	4128	6138			8755							g.chr14:106318590C>G	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106318590C>G						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron								3603		-								P20769	RNA	SNP	ENST00000390559.2	37	c.56544G>C																																																																																					PASS	0.662	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		5	7	5	7	---	---	---	---
IGHV1-2	28474	broad.mit.edu	37	14	106453074	106453074	+	RNA	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr14:106453074C>T	ENST00000390594.2	-	0	96									immunoglobulin heavy variable 1-2																		TGGCTGCTGCCACCAAGAAGA	0.547																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							54.0	55.0	55.0					14																	106453074		1882	4107	5989			8755							g.chr14:106453074C>T	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106453074C>T														1974		-									RNA	SNP	ENST00000390594.2	37	c.37765G>A																																																																																					PASS	0.547	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		9	17	9	17	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20645749	20645749	+	RNA	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:20645749G>T	ENST00000428453.1	-	0	3016							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.T776N(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAGGTGGCAGTGAAGGGTGC	0.612																																						uc001ytg.2																			1	Substitution - Missense(1)		lung(1)								c.(2326-2328)ACT>AAT		RecName: Full=Putative HERC2-like protein 3;							18.0	12.0	14.0					15																	20645749		2162	4160	6322			0							g.chr15:20645749G>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645749G>T						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.T776N|uc010tyy.1_Missense_Mutation_p.T776N	p.T776N							20	3036	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2327C>A																																																																																					PASS	0.612	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	17	4	17	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23932302	23932302	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:23932302C>A	ENST00000331837.4	-	1	148	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	21					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E21D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCTGTGCACCTCGGAGTTGG	0.672									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GAG>GAT		necdin							21.0	20.0	21.0					15																	23932302		1715	3432	5147	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932302C>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.63G>T	15.37:g.23932302C>A	ENSP00000332643:p.Glu21Asp						p.E21D	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	149	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	21					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.63G>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085952	0.36758	.	.	ENSG00000182636	ENST00000331837	T	0.02472	4.28	3.75	1.65	0.23941	.	1.132890	0.06711	N	0.773163	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.29037	0.231	B	0.22152	0.038	T	0.48269	-0.9050	10	0.30078	T	0.28	.	4.0164	0.09646	0.2274:0.6289:0.0:0.1437	.	21	Q99608	NECD_HUMAN	D	21	ENSP00000332643:E21D	ENSP00000332643:E21D	E	-	3	2	NDN	21483395	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.058000	0.14301	0.255000	0.21593	0.561000	0.74099	GAG		PASS	0.672	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		16	22	16	22	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26866506	26866506	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:26866506C>A	ENST00000311550.5	-	4	527	c.416G>T	c.(415-417)cGc>cTc	p.R139L	GABRB3_ENST00000541819.2_Missense_Mutation_p.R195L|GABRB3_ENST00000299267.4_Missense_Mutation_p.R139L|GABRB3_ENST00000545868.1_Missense_Mutation_p.R54L|GABRB3_ENST00000400188.3_Missense_Mutation_p.R68L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	139					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|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)|GABA-gated chloride ion channel activity (GO:0022851)	p.R139L(2)|p.R195L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGGATCATGCGGTTTTTCAC	0.488																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(415-417)CGC>CTC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						160.0	137.0	145.0					15																	26866506		2203	4300	6503	SO:0001583	missense	2562				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.chr15:26866506C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.416G>T	15.37:g.26866506C>A	ENSP00000308725:p.Arg139Leu					GABRB3_uc010uae.1_Missense_Mutation_p.R54L|GABRB3_uc001zba.2_Missense_Mutation_p.R139L|GABRB3_uc001zbb.2_Missense_Mutation_p.R195L|GABRB3_uc001zbc.2_RNA	p.R139L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	558	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	139			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.416G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560398	0.96527	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.77	5.77	0.91146	Neurotransmitter-gated ion-channel ligand-binding (3);	0.050172	0.85682	D	0.000000	D	0.86531	0.5955	L	0.60904	1.88	0.80722	D	1	D;D;D	0.71674	0.998;0.986;0.989	D;D;D	0.71184	0.972;0.91;0.946	D	0.86975	0.2100	10	0.87932	D	0	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	195;139;139	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	139;195;139;68;54;54	ENSP00000308725:R139L;ENSP00000442408:R195L;ENSP00000299267:R139L;ENSP00000383049:R68L;ENSP00000439169:R54L;ENSP00000452272:R54L	ENSP00000299267:R139L	R	-	2	0	GABRB3	24417599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.662000	0.83803	2.748000	0.94277	0.461000	0.40582	CGC		PASS	0.488	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			28	119	28	119	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33927921	33927921	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:33927921G>A	ENST00000389232.4	+	26	3352	c.3282G>A	c.(3280-3282)gtG>gtA	p.V1094V	RYR3_ENST00000415757.3_Silent_p.V1094V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1094	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.V1094V(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)		TTGAAGTGGTGACTGGAGGAG	0.542																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3280-3282)GTG>GTA		ryanodine receptor 3							74.0	75.0	75.0					15																	33927921		2044	4210	6254	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927921G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3282G>A	15.37:g.33927921G>A						RYR3_uc010bar.2_Silent_p.V1094V	p.V1094V	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)	26	3352	+		all_lung(180;7.18e-09)	1094			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3282G>A	CCDS45210.1																																																																																				PASS	0.542	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	24	6	24	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34376672	34376672	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:34376672T>C	ENST00000256545.4	-	5	700	c.592A>G	c.(592-594)Atg>Gtg	p.M198V		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	198						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.M198V(1)									AGCATATTCATTGACTGCTCC	0.408																																						uc001zhm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)ATG>GTG		chromosome 15 open reading frame 24 precursor							147.0	129.0	135.0					15																	34376672		2201	4298	6499	SO:0001583	missense	56851					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding	g.chr15:34376672T>C	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.592A>G	15.37:g.34376672T>C	ENSP00000256545:p.Met198Val					C15orf24_uc001zhn.2_Missense_Mutation_p.M81V	p.M198V	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	5	605	-		all_lung(180;1.76e-08)	198			Cytoplasmic (Potential).		B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	c.592A>G	CCDS10032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.06|18.06	3.538747|3.538747	0.65085|0.65085	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000256545|ENST00000527822	.|.	.|.	.|.	5.19|5.19	4.07|4.07	0.47477|0.47477	.|.	0.039153|.	0.85682|.	D|.	0.000000|.	T|T	0.64778|0.64778	0.2629|0.2629	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999993|0.999993	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.62996|0.62996	-0.6735|-0.6735	9|5	0.33940|.	T|.	0.23|.	-9.5503|-9.5503	10.8067|10.8067	0.46522|0.46522	0.0:0.074:0.0:0.926|0.0:0.074:0.0:0.926	.|.	198|.	Q9NPA0|.	CO024_HUMAN|.	V|S	198|147	.|.	ENSP00000256545:M198V|.	M|N	-|-	1|2	0|0	C15orf24|C15orf24	32163964|32163964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.868000|7.868000	0.87116|0.87116	1.004000|1.004000	0.39156|0.39156	0.455000|0.455000	0.32223|0.32223	ATG|AAT		PASS	0.408	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		48	113	48	113	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40504848	40504848	+	Splice_Site	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:40504848A>C	ENST00000287598.6	+	19	2729	c.2534A>C	c.(2533-2535)cAg>cCg	p.Q845P	BUB1B_ENST00000412359.3_Splice_Site_p.Q859P	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	845	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|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)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q845P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCACCCTTCAGGTCTGTAAT	0.328			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(2533-2535)CAG>CCG		budding uninhibited by benzimidazoles 1 beta							81.0	78.0	79.0					15																	40504848		2203	4300	6503	SO:0001630	splice_region_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40504848A>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2535+1A>C	15.37:g.40504848A>C							p.Q845P	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	19	2746	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	845			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.2534A>C	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615962	0.46631	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.65178	-0.14;-0.14	5.1	2.6	0.31112	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);	0.652316	0.14880	N	0.293043	T	0.65228	0.2671	M	0.67569	2.06	0.30597	N	0.760951	P	0.51147	0.942	P	0.54590	0.756	T	0.65804	-0.6079	10	0.59425	D	0.04	-10.5269	2.5082	0.04650	0.5931:0.1451:0.121:0.1408	.	845	O60566	BUB1B_HUMAN	P	845;859;728	ENSP00000287598:Q845P;ENSP00000398470:Q859P	ENSP00000287598:Q845P	Q	+	2	0	BUB1B	38292140	0.995000	0.38212	1.000000	0.80357	0.959000	0.62525	0.882000	0.28186	1.920000	0.55613	0.533000	0.62120	CAG		PASS	0.328	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		Missense_Mutation	23	64	23	64	---	---	---	---
DISP2	85455	broad.mit.edu	37	15	40660491	40660491	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:40660491C>T	ENST00000267889.3	+	8	2265	c.2178C>T	c.(2176-2178)cgC>cgT	p.R726R	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	726					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.R726R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCAGCCCCCGCCTGCGGCTGC	0.706																																						uc001zlk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2176-2178)CGC>CGT		dispatched B							11.0	13.0	12.0					15																	40660491		2135	4210	6345	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40660491C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2178C>T	15.37:g.40660491C>T							p.R726R	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	2267	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	726					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.2178C>T	CCDS10056.1																																																																																				PASS	0.706	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		5	10	5	10	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41857275	41857275	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:41857275A>T	ENST00000263798.3	+	6	943	c.719A>T	c.(718-720)aAc>aTc	p.N240I	TYRO3_ENST00000559066.1_Missense_Mutation_p.N195I	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	240	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N240I(1)|p.N232I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCCAGCAGCAACGCTAGTGTG	0.597																																						uc001zof.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(718-720)AAC>ATC		TYRO3 protein tyrosine kinase precursor							101.0	90.0	93.0					15																	41857275		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857275A>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.719A>T	15.37:g.41857275A>T	ENSP00000263798:p.Asn240Ile						p.N240I	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	943	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	240			Fibronectin type-III 1.|Extracellular (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.719A>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468952	0.84533	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57595	0.39	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000369	T	0.64394	0.2594	L	0.51422	1.61	0.58432	D	0.999995	D	0.71674	0.998	D	0.71656	0.974	T	0.66921	-0.5801	10	0.72032	D	0.01	-16.9041	11.1558	0.48486	1.0:0.0:0.0:0.0	.	240	Q06418	TYRO3_HUMAN	I	172;240	ENSP00000263798:N240I	ENSP00000263798:N240I	N	+	2	0	TYRO3	39644567	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.272000	0.58908	2.140000	0.66376	0.533000	0.62120	AAC		PASS	0.597	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			17	43	17	43	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42028655	42028655	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:42028655C>T	ENST00000570161.1	+	12	4193	c.4193C>T	c.(4192-4194)tCt>tTt	p.S1398F	MGA_ENST00000566586.1_Missense_Mutation_p.S1398F|MGA_ENST00000389936.4_Missense_Mutation_p.S1398F|MGA_ENST00000545763.1_Missense_Mutation_p.S1398F|MGA_ENST00000219905.7_Missense_Mutation_p.S1398F			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				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.S1398F(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)	GTGAAAATCTCTATGCCATCA	0.468																																						uc010ucy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(4192-4194)TCT>TTT		MAX-interacting protein isoform 1							65.0	63.0	63.0					15																	42028655		1884	4109	5993	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42028655C>T	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.4193C>T	15.37:g.42028655C>T	ENSP00000457035:p.Ser1398Phe					MGA_uc010ucz.1_Missense_Mutation_p.S1398F|MGA_uc010uda.1_Intron	p.S1398F	NM_001164273	NP_001157745	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)	13	4374	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1398					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4193C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424951	0.83667	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;D	0.88586	2.2;2.2;-2.4	5.82	5.82	0.92795	.	0.602060	0.14946	N	0.289217	D	0.92143	0.7509	L	0.29908	0.895	0.47009	D	0.999281	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.92330	0.5873	10	0.87932	D	0	.	20.0938	0.97831	0.0:1.0:0.0:0.0	.	1398;1398	F5H7K2;E7ENI0	.;.	F	1398	ENSP00000219905:S1398F;ENSP00000374586:S1398F;ENSP00000442467:S1398F	ENSP00000219905:S1398F	S	+	2	0	MGA	39815947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.757000	0.94681	0.585000	0.79938	TCT		PASS	0.468	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		15	37	15	37	---	---	---	---
ANP32A	8125	broad.mit.edu	37	15	69113052	69113052	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:69113052G>T	ENST00000465139.2	-	1	182	c.39C>A	c.(37-39)aaC>aaA	p.N13K	SPESP1_ENST00000560188.1_Intron|ANP32A_ENST00000560303.1_Missense_Mutation_p.N13K	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	13					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.N13K(1)		endometrium(1)|large_intestine(1)|lung(2)	4						AGGGCGTCCTGTTCCGCAGCT	0.547																																						uc002arl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)AAC>AAA		acidic (leucine-rich) nuclear phosphoprotein 32							67.0	74.0	72.0					15																	69113052		2120	4247	6367	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69113052G>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.39C>A	15.37:g.69113052G>T	ENSP00000417864:p.Asn13Lys						p.N13K	NM_006305	NP_006296	P39687	AN32A_HUMAN			1	210	-			13					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.39C>A	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049592	0.55218	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.00457	7.29	4.24	4.24	0.50183	.	0.213877	0.47852	D	0.000201	T	0.00637	0.0021	M	0.79614	2.46	0.80722	D	1	B	0.18310	0.027	B	0.25291	0.059	T	0.64445	-0.6406	10	0.37606	T	0.19	.	13.9322	0.64003	0.0:0.0:1.0:0.0	.	13	P39687	AN32A_HUMAN	K	13	ENSP00000417864:N13K	ENSP00000350970:N13K	N	-	3	2	ANP32A	66900106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.190000	0.58365	2.205000	0.71048	0.561000	0.74099	AAC		PASS	0.547	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			9	42	9	42	---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69709736	69709736	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:69709736G>A	ENST00000260363.4	+	3	213	c.96G>A	c.(94-96)gtG>gtA	p.V32V	KIF23_ENST00000352331.4_Silent_p.V32V|KIF23_ENST00000395392.2_Silent_p.V32V|RP11-253M7.1_ENST00000560539.1_RNA|KIF23_ENST00000559279.1_Silent_p.V32V|RP11-253M7.1_ENST00000558617.1_RNA	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	32	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)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.V32V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ACTGTAGGGTGCGCCCACTGG	0.413																																						uc002asb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)GTG>GTA		kinesin family member 23 isoform 1							132.0	116.0	121.0					15																	69709736		2199	4298	6497	SO:0001819	synonymous_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69709736G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.96G>A	15.37:g.69709736G>A						KIF23_uc002asc.2_Silent_p.V32V|KIF23_uc010bii.2_5'UTR|KIF23_uc010bih.1_RNA	p.V32V	NM_138555	NP_612565	Q02241	KIF23_HUMAN			3	213	+			32			Kinesin-motor.		Q8WVP0	Silent	SNP	ENST00000260363.4	37	c.96G>A	CCDS32278.1																																																																																				PASS	0.413	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				40	99	40	99	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73562757	73562757	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:73562757C>T	ENST00000339362.5	+	19	3266	c.2819C>T	c.(2818-2820)aCa>aTa	p.T940I	NEO1_ENST00000558964.1_Missense_Mutation_p.T940I|NEO1_ENST00000560262.1_Missense_Mutation_p.T940I|NEO1_ENST00000261908.6_Missense_Mutation_p.T940I			Q92859	NEO1_HUMAN	neogenin 1	940	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T940I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGATCAAGTACATGGAGTATG	0.423																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2818-2820)ACA>ATA		neogenin homolog 1 precursor							116.0	117.0	116.0					15																	73562757		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73562757C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2819C>T	15.37:g.73562757C>T	ENSP00000341198:p.Thr940Ile					NEO1_uc010ukx.1_Missense_Mutation_p.T940I|NEO1_uc010uky.1_Missense_Mutation_p.T940I|NEO1_uc010ukz.1_Missense_Mutation_p.T364I|NEO1_uc002avn.3_Missense_Mutation_p.T589I	p.T940I	NM_002499	NP_002490	Q92859	NEO1_HUMAN			18	2961	+			940			Extracellular (Potential).|Fibronectin type-III 5.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.2819C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842412	0.91197	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.57595	0.39;0.39	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;D;D	0.91635	0.999;0.899;0.953;0.996	T	0.73291	-0.4029	10	0.45353	T	0.12	-13.8875	20.3932	0.98965	0.0:1.0:0.0:0.0	.	940;940;662;940	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	940;662;940	ENSP00000341198:T940I;ENSP00000261908:T940I	ENSP00000261908:T940I	T	+	2	0	NEO1	71349810	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.862000	0.62976	2.824000	0.97209	0.655000	0.94253	ACA		PASS	0.423	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		21	37	21	37	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91769672	91769672	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr15:91769672A>G	ENST00000394232.1	+	2	649	c.179A>G	c.(178-180)aAg>aGg	p.K60R	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.K60R|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	60					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.K60R(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)			GATGATGTCAAGGCCAAGCAG	0.572																																						uc002bqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(178-180)AAG>AGG		synaptic vesicle protein 2B homolog							122.0	102.0	109.0					15																	91769672		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769672A>G	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.179A>G	15.37:g.91769672A>G	ENSP00000377779:p.Lys60Arg					SV2B_uc002bqt.2_Missense_Mutation_p.K60R|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.K60R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	570	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		60			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.179A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817467	0.50633	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.31510	1.49;1.49	5.71	3.36	0.38483	.	0.399655	0.32563	N	0.005929	T	0.14917	0.0360	N	0.16201	0.385	0.45946	D	0.998778	B	0.12630	0.006	B	0.15484	0.013	T	0.08106	-1.0738	10	0.15499	T	0.54	-21.0712	7.1748	0.25738	0.774:0.1486:0.0773:0.0	.	60	Q7L1I2	SV2B_HUMAN	R	60	ENSP00000377779:K60R;ENSP00000332818:K60R	ENSP00000332818:K60R	K	+	2	0	SV2B	89570676	1.000000	0.71417	0.939000	0.37840	0.993000	0.82548	4.333000	0.59285	0.948000	0.37687	0.460000	0.39030	AAG		PASS	0.572	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		18	48	18	48	---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	335627	335627	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:335627C>A	ENST00000219406.6	+	7	1061	c.1043C>A	c.(1042-1044)gCg>gAg	p.A348E	PDIA2_ENST00000404312.1_Missense_Mutation_p.A345E	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	348					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)	p.A348E(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AAGAAGTATGCGCCTGTGGAT	0.582																																						uc002cgn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1042-1044)GCG>GAG		protein disulfide isomerase A2 precursor							60.0	75.0	70.0					16																	335627		2088	4215	6303	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335627C>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1043C>A	16.37:g.335627C>A	ENSP00000219406:p.Ala348Glu					PDIA2_uc010bqt.1_Missense_Mutation_p.A193E|PDIA2_uc002cgo.1_Missense_Mutation_p.A348E	p.A348E	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			12	2151	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	348					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.1043C>A	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.956218	0.34565	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.31247	1.5;1.5	4.13	-2.24	0.06909	Thioredoxin-like fold (1);	0.624557	0.14963	N	0.288278	T	0.27629	0.0679	L	0.56769	1.78	0.09310	N	1	P	0.35107	0.484	B	0.41571	0.36	T	0.27640	-1.0068	10	0.59425	D	0.04	.	3.2223	0.06720	0.1234:0.5074:0.1216:0.2475	.	348	Q13087	PDIA2_HUMAN	E	348;317;345	ENSP00000219406:A348E;ENSP00000384410:A345E	ENSP00000219406:A348E	A	+	2	0	PDIA2	275628	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.003000	0.12901	-0.206000	0.10203	0.486000	0.48141	GCG		PASS	0.582	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		7	64	7	64	---	---	---	---
WDR24	84219	broad.mit.edu	37	16	735761	735761	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:735761G>A	ENST00000248142.6	-	10	1985	c.1986C>T	c.(1984-1986)agC>agT	p.S662S	JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|WDR24_ENST00000293883.4_Silent_p.S532S|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	662								p.S662S(1)|p.S532S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CAGGTACGTCGCTGCCCTCGG	0.662																																						uc002ciz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1594-1596)AGC>AGT		WD repeat domain 24							86.0	86.0	86.0					16																	735761		2200	4300	6500	SO:0001819	synonymous_variant	84219							g.chr16:735761G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1986C>T	16.37:g.735761G>A						JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	p.S532S	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			6	2356	-		Hepatocellular(780;0.0218)	662					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	37	c.1596C>T																																																																																					PASS	0.662	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		7	91	7	91	---	---	---	---
MAPK8IP3	23162	broad.mit.edu	37	16	1756652	1756652	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:1756652G>A	ENST00000250894.4	+	1	469	c.312G>A	c.(310-312)gcG>gcA	p.A104A	MAPK8IP3_ENST00000356010.5_Silent_p.A104A	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	104					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.A104A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCAGGCAGGCGGAGGAGGTGC	0.741																																						uc002cmk.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(310-312)GCG>GCA		mitogen-activated protein kinase 8 interacting							16.0	17.0	17.0					16																	1756652		2159	4252	6411	SO:0001819	synonymous_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1756652G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.312G>A	16.37:g.1756652G>A						MAPK8IP3_uc002cmi.1_Silent_p.A104A|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.A104A|MAPK8IP3_uc010uvl.1_Silent_p.A104A	p.A104A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			1	432	+			104			Potential.		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.312G>A	CCDS10442.2																																																																																				PASS	0.741	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		3	3	3	3	---	---	---	---
AMDHD2	51005	broad.mit.edu	37	16	2579538	2579538	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:2579538T>C	ENST00000293971.6	+	11	1298	c.1204T>C	c.(1204-1206)Tgg>Cgg	p.W402R	AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Intron|AMDHD2_ENST00000302956.4_Missense_Mutation_p.W432R|CEMP1_ENST00000382350.1_Intron|MIR3178_ENST00000581887.1_RNA	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	402					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)	p.W432R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGAGCTGGTGTGGCAGGCGGA	0.657																																						uc002cqq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|breast(1)	4						c.(1204-1206)TGG>CGG		amidohydrolase domain containing 2 isoform 1							104.0	82.0	89.0					16																	2579538		2198	4300	6498	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2579538T>C	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.1204T>C	16.37:g.2579538T>C	ENSP00000293971:p.Trp402Arg					AMDHD2_uc002cqp.2_Missense_Mutation_p.W432R|AMDHD2_uc010uwc.1_Intron|AMDHD2_uc010uwd.1_Intron	p.W402R	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN			11	1301	+			402					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.1204T>C		.	.	.	.	.	.	.	.	.	.	T	26.7	4.759499	0.89932	.	.	ENSG00000162066	ENST00000302956;ENST00000293971	.	.	.	5.28	5.28	0.74379	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	L	0.45137	1.4	0.80722	D	1	D;D	0.67145	0.972;0.996	P;D	0.69654	0.866;0.965	T	0.71027	-0.4711	9	0.72032	D	0.01	.	14.0556	0.64767	0.0:0.0:0.0:1.0	.	402;432	Q9Y303;Q9Y303-2	NAGA_HUMAN;.	R	432;402	.	ENSP00000293971:W402R	W	+	1	0	AMDHD2	2519539	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.882000	0.75589	2.000000	0.58554	0.533000	0.62120	TGG		PASS	0.657	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		11	118	11	118	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15716946	15716946	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:15716946G>A	ENST00000396368.3	-	11	2511	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S	KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P438S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P769S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.P766S|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P766S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	769					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P769S(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AAAGCAAGCGGGGATGCTCTG	0.383																																						uc002ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2305-2307)CCG>TCG		limkain b1							87.0	84.0	85.0					16																	15716946		1859	4104	5963	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15716946G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2305C>T	16.37:g.15716946G>A	ENSP00000379654:p.Pro769Ser					KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.P765S|KIAA0430_uc010uzw.1_Missense_Mutation_p.P768S	p.P769S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			11	2498	-			768					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2305C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965666	0.92855	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76958	-0.2766	9	0.48119	T	0.1	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	768;766;765	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	S	769;768;438;766;769;616	.	ENSP00000315718:P768S	P	-	1	0	KIAA0430	15624447	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	8.652000	0.91083	2.692000	0.91855	0.650000	0.86243	CCG		PASS	0.383	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		31	70	31	70	---	---	---	---
KNOP1	400506	broad.mit.edu	37	16	19722719	19722719	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:19722719T>A	ENST00000219837.7	-	3	1040	c.962A>T	c.(961-963)aAc>aTc	p.N321I	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	321	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N321I(1)									CTCATCCATGTTGCCTTTTTT	0.567																																						uc002dgq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)AAC>ATC		hypothetical protein LOC400506							230.0	251.0	244.0					16																	19722719		2188	4290	6478	SO:0001583	missense	400506					nucleolus		g.chr16:19722719T>A	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.962A>T	16.37:g.19722719T>A	ENSP00000219837:p.Asn321Ile						p.N321I	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN			3	977	-			321			Interaction with ZFP106 (By similarity).		O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.962A>T	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709974	0.68730	.	.	ENSG00000103550	ENST00000219837	T	0.37584	1.19	4.43	4.43	0.53597	.	1.300690	0.04704	N	0.416454	T	0.58452	0.2123	M	0.68952	2.095	0.80722	D	1	D	0.58268	0.982	P	0.61592	0.891	T	0.35001	-0.9806	9	.	.	.	-36.0331	11.4487	0.50138	0.0:0.0:0.0:1.0	.	321	Q1ED39	CP088_HUMAN	I	321	ENSP00000219837:N321I	.	N	-	2	0	C16orf88	19630220	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.603000	0.61105	1.975000	0.57531	0.379000	0.24179	AAC		PASS	0.567	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		8	73	8	73	---	---	---	---
CRYM	1428	broad.mit.edu	37	16	21278978	21278978	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:21278978C>T	ENST00000219599.3	-	7	835	c.570G>A	c.(568-570)tcG>tcA	p.S190S	CRYM_ENST00000415987.2_Silent_p.S148S|CRYM_ENST00000543948.1_Silent_p.S190S|CRYM_ENST00000396023.2_Silent_p.S190S	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)	p.S190S(1)		large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CCTCCTGGACCGAAGAACAGA	0.512																																						uc002dik.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)TCG>TCA		crystallin, mu isoform 1	Levothyroxine(DB00451)						182.0	152.0	162.0					16																	21278978		2199	4300	6499	SO:0001819	synonymous_variant	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21278978C>T		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.570G>A	16.37:g.21278978C>T						CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.S148S|CRYM_uc002dim.2_Silent_p.S190S	p.S190S	NM_001888	NP_001879	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	5	655	-			190					D5MNX0|Q5HYB7	Silent	SNP	ENST00000219599.3	37	c.570G>A	CCDS10597.1																																																																																				PASS	0.512	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			9	54	9	54	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23383105	23383105	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:23383105T>C	ENST00000343070.2	+	7	1229	c.1053T>C	c.(1051-1053)ctT>ctC	p.L351L	SCNN1B_ENST00000568923.1_Silent_p.L324L|SCNN1B_ENST00000307331.5_Silent_p.L396L|SCNN1B_ENST00000568085.1_Intron	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	351					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.L351L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGGACAAGCTTCAGCGCATGG	0.567																																						uc002dln.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(1051-1053)CTT>CTC		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)						153.0	142.0	146.0					16																	23383105		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23383105T>C	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1053T>C	16.37:g.23383105T>C							p.L351L	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	7	1229	+			351			Extracellular (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1053T>C	CCDS10609.1																																																																																				PASS	0.567	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			61	84	61	84	---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28124345	28124345	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:28124345C>T	ENST00000304658.5	-	16	2531	c.2031G>A	c.(2029-2031)gcG>gcA	p.A677A	XPO6_ENST00000565698.1_Silent_p.A663A	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	677					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.A677A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTAAGTGGCACGCAGATAGCA	0.552																																						uc002dpa.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2029-2031)GCG>GCA		exportin 6							61.0	66.0	64.0					16																	28124345		2105	4232	6337	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28124345C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2031G>A	16.37:g.28124345C>T						XPO6_uc002dpb.1_Silent_p.A663A|XPO6_uc010vcp.1_Silent_p.A677A	p.A677A	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			16	2532	-			677					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.2031G>A	CCDS42135.1																																																																																				PASS	0.552	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		4	42	4	42	---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30004865	30004865	+	Silent	SNP	T	T	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:30004865T>G	ENST00000279392.3	-	6	2252	c.1422A>C	c.(1420-1422)ctA>ctC	p.L474L	HIRIP3_ENST00000564026.1_Silent_p.R162R|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	474					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.L474L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GACACTTCCCTAGGGAAGGGG	0.637																																						uc002dve.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1420-1422)CTA>CTC		HIRA interacting protein 3							53.0	56.0	55.0					16																	30004865		2197	4300	6497	SO:0001819	synonymous_variant	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30004865T>G	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.1422A>C	16.37:g.30004865T>G						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_Silent_p.R162R	p.L474L	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			6	1883	-			474					H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.1422A>C	CCDS10664.1																																																																																				PASS	0.637	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		13	55	13	55	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30387949	30387949	+	IGR	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:30387949C>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.P96S			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.P96S(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGGTGCCGACCCTGAGGATGT	0.607																																						uc002dxv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CCT>TCT		myosin light chain, phosphorylatable, fast							74.0	68.0	70.0					16																	30387949		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387949C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387949C>T							p.P96S	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		5	342	+			96			EF-hand 2.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.286C>T		.	.	.	.	.	.	.	.	.	.	C	14.13	2.444993	0.43429	.	.	ENSG00000180209	ENST00000322861	T	0.77877	-1.13	4.99	4.99	0.66335	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	N	0.21097	0.63	0.80722	D	1	P	0.51057	0.941	P	0.45138	0.471	T	0.72640	-0.4232	10	0.40728	T	0.16	.	17.0575	0.86539	0.0:1.0:0.0:0.0	.	96	Q96A32	MLRS_HUMAN	S	96	ENSP00000325239:P96S	ENSP00000325239:P96S	P	+	1	0	MYLPF	30295450	1.000000	0.71417	0.981000	0.43875	0.363000	0.29612	5.496000	0.66918	2.322000	0.78497	0.453000	0.30009	CCT		PASS	0.607	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		29	31	29	31	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30722077	30722077	+	Silent	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:30722077A>T	ENST00000262518.4	+	9	1522	c.1137A>T	c.(1135-1137)atA>atT	p.I379I	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Silent_p.I379I|SRCAP_ENST00000395059.2_Silent_p.I379I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	379	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.I379I(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCATACAGATAAAGCCCCCAC	0.468																																						uc002dze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1135-1137)ATA>ATT		Snf2-related CBP activator protein							118.0	105.0	109.0					16																	30722077		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30722077A>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1137A>T	16.37:g.30722077A>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.I236I|SRCAP_uc010bzz.1_5'UTR	p.I379I	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		9	1522	+			379			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.1137A>T	CCDS10689.2																																																																																				PASS	0.468	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		6	72	6	72	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30722079	30722079	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:30722079A>C	ENST00000262518.4	+	9	1524	c.1139A>C	c.(1138-1140)aAg>aCg	p.K380T	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.K380T|SRCAP_ENST00000395059.2_Missense_Mutation_p.K380T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	380	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.K380T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATACAGATAAAGCCCCCACCC	0.468																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1138-1140)AAG>ACG		Snf2-related CBP activator protein							118.0	105.0	109.0					16																	30722079		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30722079A>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1139A>C	16.37:g.30722079A>C	ENSP00000262518:p.Lys380Thr					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K237T|SRCAP_uc010bzz.1_5'UTR	p.K380T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		9	1524	+			380			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1139A>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	5.538	0.284081	0.10513	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.81;-2.78;-2.78	5.81	4.73	0.59995	.	0.402632	0.23962	N	0.042856	T	0.81730	0.4884	L	0.34521	1.04	0.09310	N	1	P;B	0.35272	0.493;0.361	B;B	0.27380	0.079;0.036	T	0.71087	-0.4694	10	0.24483	T	0.36	-1.8444	9.0324	0.36267	0.9165:0.0:0.0835:0.0	.	380;380	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	380	ENSP00000262518:K380T;ENSP00000378499:K380T;ENSP00000343042:K380T	ENSP00000262518:K380T	K	+	2	0	SRCAP	30629580	0.123000	0.22298	0.050000	0.19076	0.187000	0.23431	2.355000	0.44107	2.225000	0.72522	0.533000	0.62120	AAG		PASS	0.468	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		6	70	6	70	---	---	---	---
MMP15	4324	broad.mit.edu	37	16	58072217	58072217	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:58072217G>T	ENST00000219271.3	+	3	1144	c.359G>T	c.(358-360)cGa>cTa	p.R120L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	120					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R120L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TTCGGGGTACGAGTGAAAGCC	0.652																																						uc002ena.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(358-360)CGA>CTA		matrix metalloproteinase 15 preproprotein							102.0	94.0	97.0					16																	58072217		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58072217G>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.359G>T	16.37:g.58072217G>T	ENSP00000219271:p.Arg120Leu						p.R120L	NM_002428	NP_002419	P51511	MMP15_HUMAN			3	1332	+			120					A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.359G>T	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899155	0.33535	.	.	ENSG00000102996	ENST00000219271	T	0.16457	2.34	4.22	-0.698	0.11280	Metallopeptidase, catalytic domain (1);	0.504198	0.20858	N	0.084401	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	0.999999	B	0.27498	0.18	B	0.25759	0.063	T	0.29971	-0.9994	10	0.31617	T	0.26	.	8.2392	0.31650	0.4037:0.0:0.5963:0.0	.	120	P51511	MMP15_HUMAN	L	120	ENSP00000219271:R120L	ENSP00000219271:R120L	R	+	2	0	MMP15	56629718	0.000000	0.05858	0.034000	0.17996	0.788000	0.44548	-0.104000	0.10923	-0.292000	0.08999	0.462000	0.41574	CGA		PASS	0.652	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		66	58	66	58	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69788568	69788568	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:69788568G>A	ENST00000268802.5	-	2	154	c.125C>T	c.(124-126)aCa>aTa	p.T42I		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	42	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T42I(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGCCTGCGTGTGGCCTTGTC	0.632																																						uc002exs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)ACA>ATA		nin one binding protein							73.0	65.0	67.0					16																	69788568		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69788568G>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.125C>T	16.37:g.69788568G>A	ENSP00000268802:p.Thr42Ile						p.T42I	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			2	141	-			42			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.125C>T	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271955	0.95429	.	.	ENSG00000141101	ENST00000268802	T	0.33438	1.41	4.45	4.45	0.53987	Nucleotide binding protein, PINc (1);	1.464880	0.04777	N	0.429098	T	0.48537	0.1505	M	0.71920	2.185	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.45086	-0.9285	9	.	.	.	.	16.3656	0.83319	0.0:0.0:1.0:0.0	.	42	Q9ULX3	NOB1_HUMAN	I	42	ENSP00000268802:T42I	.	T	-	2	0	NOB1	68346069	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.639000	0.91023	2.470000	0.83445	0.591000	0.81541	ACA		PASS	0.632	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		33	35	33	35	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71101194	71101194	+	Splice_Site	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:71101194T>A	ENST00000393567.2	-	15	2224	c.2074A>T	c.(2074-2076)Agg>Tgg	p.R692W	HYDIN_ENST00000321489.5_Splice_Site_p.R692W|HYDIN_ENST00000541601.1_Splice_Site_p.R709W|HYDIN_ENST00000448089.2_Splice_Site_p.R692W|HYDIN_ENST00000538248.1_Splice_Site_p.R719W|HYDIN_ENST00000288168.10_Missense_Mutation_p.R709W|HYDIN_ENST00000393550.2_Splice_Site_p.S707C|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000448691.1_Splice_Site_p.R692W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	692					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R692W(3)|p.S707C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGCAATACCTTGCTGTAATT	0.582																																						uc002ezr.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(2074-2076)AGG>TGG		hydrocephalus inducing isoform a							62.0	53.0	56.0					16																	71101194		2197	4298	6495	SO:0001630	splice_region_variant	54768							g.chr16:71101194T>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2075+1A>T	16.37:g.71101194T>A						HYDIN_uc010cfz.1_Missense_Mutation_p.R437W|HYDIN_uc002ezv.2_Missense_Mutation_p.R692W|HYDIN_uc010vmc.1_Missense_Mutation_p.R709W|HYDIN_uc010vmd.1_Missense_Mutation_p.R719W|HYDIN_uc002ezw.3_Missense_Mutation_p.R709W	p.R692W	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			15	2202	-		Ovarian(137;0.0654)	692					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.2074A>T	CCDS59269.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	24.0|24.0|24.0	4.478785|4.478785|4.478785	0.84747|0.84747|0.84747	.|.|.	.|.|.	ENSG00000157423|ENSG00000157423|ENSG00000157423	ENST00000542890|ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168|ENST00000393550	.|T;T;T;T;T;T;T|T	.|0.52295|0.44083	.|0.67;0.67;0.67;0.67;0.67;0.67;0.67|0.93	4.99|4.99|4.99	4.99|4.99|4.99	0.66335|0.66335|0.66335	.|.|.	.|0.000000|.	.|0.36034|.	.|U|.	.|0.002836|.	T|T|T	0.58736|0.58736|0.58736	0.2143|0.2143|0.2143	M|M|M	0.77616|0.77616|0.77616	2.38|2.38|2.38	0.28849|0.28849|0.28849	N|N|N	0.896143|0.896143|0.896143	.|D;D;D;D;D|.	.|0.89917|.	.|0.999;0.999;0.999;0.999;1.0|.	.|D;D;D;D;D|.	.|0.85130|.	.|0.987;0.987;0.987;0.996;0.997|.	T|T|T	0.59500|0.59500|0.59500	-0.7443|-0.7443|-0.7443	5|10|7	.|0.72032|0.72032	.|D|D	.|0.01|0.01	.|.|.	13.7486|13.7486|13.7486	0.62890|0.62890|0.62890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|719;709;709;692;692|.	.|B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.|.;.;.;.;.|.	H|W|C	93|692;692;692;692;692;719;709;709|707	.|ENSP00000377197:R692W;ENSP00000398544:R692W;ENSP00000394826:R692W;ENSP00000314736:R692W;ENSP00000444970:R719W;ENSP00000437341:R709W;ENSP00000288168:R709W|ENSP00000377181:S707C	.|ENSP00000288168:R709W|ENSP00000377181:S707C	Q|R|S	-|-|-	3|1|1	2|2|0	HYDIN|HYDIN|HYDIN	69658695|69658695|69658695	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.859000|0.859000|0.859000	0.49053|0.49053|0.49053	6.557000|6.557000|6.557000	0.73937|0.73937|0.73937	1.891000|1.891000|1.891000	0.54761|0.54761|0.54761	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	CAA|AGG|AGT		PASS	0.582	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Missense_Mutation	24	19	24	19	---	---	---	---
CLEC18B	497190	broad.mit.edu	37	16	74446697	74446697	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:74446697G>A	ENST00000339953.5	-	6	879	c.758C>T	c.(757-759)cCt>cTt	p.P253L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	253	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P253L(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CGTGTAGCCAGGGGGACAGTG	0.622																																						uc002fct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)CCT>CTT		C-type lectin domain family 18, member B							27.0	32.0	30.0					16																	74446697		2196	4275	6471	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74446697G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.758C>T	16.37:g.74446697G>A	ENSP00000341051:p.Pro253Leu					CLEC18B_uc002fcu.2_Missense_Mutation_p.P253L|CLEC18B_uc010vmu.1_Missense_Mutation_p.P173L|CLEC18B_uc010vmv.1_Missense_Mutation_p.P20L	p.P253L	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			6	958	-			253			EGF-like.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.758C>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	N	13.59	2.282415	0.40394	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.62105	0.05	3.13	3.13	0.36017	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.062210	0.64402	D	0.000004	T	0.52917	0.1764	L	0.27053	0.805	0.58432	D	0.999993	P;P;P	0.43607	0.812;0.693;0.693	B;B;P	0.46389	0.355;0.437;0.515	T	0.58137	-0.7689	10	0.72032	D	0.01	.	9.9117	0.41411	0.0:0.0:1.0:0.0	.	173;253;253	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	L	253;253;253;173	ENSP00000341051:P253L	ENSP00000268492:P253L	P	-	2	0	CLEC18B	73004198	1.000000	0.71417	0.951000	0.38953	0.130000	0.20726	3.183000	0.50918	1.750000	0.51863	0.425000	0.28330	CCT		PASS	0.622	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		8	63	8	63	---	---	---	---
ADAD2	161931	broad.mit.edu	37	16	84224969	84224969	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:84224969C>A	ENST00000315906.5	+	1	185	c.133C>A	c.(133-135)Ccc>Acc	p.P45T	ADAD2_ENST00000567413.1_3'UTR|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.P45T|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	45					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.P45T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGCCTgggggcccgcgcccgc	0.751																																						uc002fhr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)CCC>ACC		adenosine deaminase domain containing 2 isoform							5.0	7.0	6.0					16																	84224969		1830	3651	5481	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84224969C>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.133C>A	16.37:g.84224969C>A	ENSP00000325153:p.Pro45Thr					ADAD2_uc002fhq.2_Missense_Mutation_p.P45T	p.P45T	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN			1	247	+			45					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.133C>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727310	0.15439	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.18174	2.34;2.23	2.13	-1.25	0.09405	.	2.669140	0.02068	N	0.051331	T	0.19287	0.0463	N	0.19112	0.55	0.09310	N	1	B;D	0.61697	0.01;0.99	B;D	0.63381	0.004;0.914	T	0.22591	-1.0212	10	0.18710	T	0.47	-0.543	2.2346	0.04005	0.2477:0.447:0.0:0.3053	.	45;45	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	T	45	ENSP00000325153:P45T;ENSP00000268624:P45T	ENSP00000268624:P45T	P	+	1	0	ADAD2	82782470	0.046000	0.20272	0.000000	0.03702	0.010000	0.07245	0.055000	0.14229	-0.243000	0.09653	0.398000	0.26397	CCC		PASS	0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		6	4	6	4	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88904108	88904108	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:88904108G>A	ENST00000268695.5	-	5	576	c.488C>T	c.(487-489)cCc>cTc	p.P163L	GALNS_ENST00000542788.1_Missense_Mutation_p.P88L|GALNS_ENST00000565364.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	163	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|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-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.P163L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GTGGCAGTTGGGGGATCCAAA	0.582																																					GBM(129;1929 2344 25209 33204)	uc002fly.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(487-489)CCC>CTC		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						117.0	99.0	105.0					16																	88904108		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88904108G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.488C>T	16.37:g.88904108G>A	ENSP00000268695:p.Pro163Leu					GALNS_uc010cid.2_Missense_Mutation_p.P169L|GALNS_uc002flz.3_Intron	p.P163L	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	5	577	-			163					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.488C>T	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.679375	0.88542	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.92752	-3.1;-3.1	5.18	5.18	0.71444	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.75484	0.926;0.986	D	0.93991	0.7267	10	0.49607	T	0.09	.	18.6864	0.91565	0.0:0.0:1.0:0.0	.	163;163	B2R6P1;P34059	.;GALNS_HUMAN	L	163;88	ENSP00000268695:P163L;ENSP00000438197:P88L	ENSP00000268695:P163L	P	-	2	0	GALNS	87431609	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.328000	0.96403	2.415000	0.81967	0.651000	0.88453	CCC		PASS	0.582	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			61	56	61	56	---	---	---	---
CPNE7	27132	broad.mit.edu	37	16	89662918	89662918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr16:89662918C>A	ENST00000268720.5	+	17	1921	c.1791C>A	c.(1789-1791)tgC>tgA	p.C597*	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Nonsense_Mutation_p.C522*	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	597					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.C597*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGCCAAGTGCGTGCTGGCCG	0.642																																						uc002fnp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1789-1791)TGC>TGA		copine 7 isoform b							78.0	75.0	76.0					16																	89662918		2198	4296	6494	SO:0001587	stop_gained	27132				lipid metabolic process		transporter activity	g.chr16:89662918C>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1791C>A	16.37:g.89662918C>A	ENSP00000268720:p.Cys597*					CPNE7_uc002fnq.2_Nonsense_Mutation_p.C522*	p.C597*	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	17	1921	+		all_hematologic(23;0.0748)	597						Nonsense_Mutation	SNP	ENST00000268720.5	37	c.1791C>A	CCDS10980.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.68|19.68	3.871985|3.871985	0.72180|0.72180	.|.	.|.	ENSG00000178773|ENSG00000178773	ENST00000526232|ENST00000319518;ENST00000268720	.|.	.|.	.|.	3.55|3.55	-7.09|-7.09	0.01553|0.01553	.|.	.|0.051641	.|0.85682	.|D	.|0.000000	T|.	0.50565|.	0.1623|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56098|.	-0.8035|.	4|.	.|0.21540	.|T	.|0.41	-17.5781|-17.5781	13.3027|13.3027	0.60334|0.60334	0.0:0.5247:0.0:0.4753|0.0:0.5247:0.0:0.4753	.|.	.|.	.|.	.|.	E|X	50|522;597	.|.	.|ENSP00000268720:C597X	A|C	+|+	2|3	0|2	CPNE7|CPNE7	88190419|88190419	0.001000|0.001000	0.12720|0.12720	0.894000|0.894000	0.35097|0.35097	0.386000|0.386000	0.30323|0.30323	-1.777000|-1.777000	0.01780|0.01780	-1.795000|-1.795000	0.01255|0.01255	-1.384000|-1.384000	0.01168|0.01168	GCG|TGC		PASS	0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			4	72	4	72	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000420246.2_Missense_Mutation_p.R175G	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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)	TGGGGGCAGCGCCTCACAACC	0.657		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		93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(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	CM011013	TP53	M	rs138729528	c.(523-525)CGC>GGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578407		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.chr17:7578407G>C	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.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G	p.R175G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	717	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.523C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		PASS	0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	27	24	27	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8045139	8045139	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:8045139C>A	ENST00000317276.4	-	22	3821	c.3584G>T	c.(3583-3585)cGg>cTg	p.R1195L	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R1172L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1195	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|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)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.R1195L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATCAAGAGCCCGAGGCAGTTG	0.567			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3583-3585)CGG>CTG	Other_conserved_DNA_damage_response_genes	period 1							75.0	86.0	82.0					17																	8045139		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045139C>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3584G>T	17.37:g.8045139C>A	ENSP00000314420:p.Arg1195Leu					PER1_uc010cns.2_Missense_Mutation_p.R69L|PER1_uc010vuq.1_RNA	p.R1195L	NM_002616	NP_002607	O15534	PER1_HUMAN			22	3822	-			1195			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3584G>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787230	0.49997	.	.	ENSG00000179094	ENST00000317276	T	0.14144	2.53	5.67	1.37	0.22104	Period circadian-like, C-terminal (1);	0.207754	0.42172	D	0.000750	T	0.14787	0.0357	L	0.31578	0.945	0.80722	D	1	P;P	0.52842	0.956;0.722	P;B	0.53035	0.716;0.258	T	0.03034	-1.1080	10	0.33141	T	0.24	-8.8461	9.7287	0.40348	0.0:0.7019:0.0:0.2981	.	1186;1195	A2I2P6;O15534	.;PER1_HUMAN	L	1195	ENSP00000314420:R1195L	ENSP00000314420:R1195L	R	-	2	0	PER1	7985864	0.075000	0.21258	1.000000	0.80357	0.990000	0.78478	0.478000	0.22212	0.340000	0.23745	-0.150000	0.13652	CGG		PASS	0.567	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			65	64	65	64	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11642264	11642264	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:11642264G>T	ENST00000262442.4	+	29	5950	c.5882G>T	c.(5881-5883)aGc>aTc	p.S1961I	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1961I|AC005701.1_ENST00000584990.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1961	AAA 1. {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.S1961I(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)		GAGGAGATCAGCCTGAATCCT	0.483																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5881-5883)AGC>ATC		dynein, axonemal, heavy chain 9 isoform 2							122.0	108.0	113.0					17																	11642264		2203	4300	6503	SO:0001583	missense	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.chr17:11642264G>T	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.5882G>T	17.37:g.11642264G>T	ENSP00000262442:p.Ser1961Ile					DNAH9_uc010coo.2_Missense_Mutation_p.S1255I	p.S1961I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	29	5950	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1961			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5882G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.238765	0.22711	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.12361	2.69;2.69	5.84	0.391	0.16282	ATPase, AAA+ type, core (1);	0.418744	0.27393	N	0.019565	T	0.18964	0.0455	M	0.87971	2.92	0.09310	N	1	B	0.14805	0.011	B	0.21546	0.035	T	0.23013	-1.0200	10	0.66056	D	0.02	.	6.5062	0.22196	0.4215:0.0:0.4656:0.1129	.	1961	Q9NYC9	DYH9_HUMAN	I	1961;1961;543	ENSP00000262442:S1961I;ENSP00000414874:S1961I	ENSP00000262442:S1961I	S	+	2	0	DNAH9	11582989	0.021000	0.18746	0.968000	0.41197	0.370000	0.29829	0.891000	0.28309	0.101000	0.17610	-0.941000	0.02677	AGC		PASS	0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		44	46	44	46	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15952254	15952254	+	Nonsense_Mutation	SNP	G	G	T	rs144480346	byFrequency	TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:15952254G>T	ENST00000268712.3	-	41	6698	c.6441C>A	c.(6439-6441)taC>taA	p.Y2147*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Y731*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Y2044*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2147	Interaction with C1D. {ECO:0000250}.				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.Y2147*(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)		AGATGGGCTCGTAGGGCTCCG	0.522																																						uc002gpo.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6439-6441)TAC>TAA		nuclear receptor co-repressor 1							82.0	74.0	77.0					17																	15952254		2203	4300	6503	SO:0001587	stop_gained	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.chr17:15952254G>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.6441C>A	17.37:g.15952254G>T	ENSP00000268712:p.Tyr2147*					NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957*	p.Y2147*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	41	6681	-			2147			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.6441C>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962089	0.74016	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	.	.	.	5.59	0.534	0.17127	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-5.9972	8.5875	0.33666	0.5028:0.0:0.4972:0.0	.	.	.	.	X	2147;2044;2051;731	.	ENSP00000268712:Y2147X	Y	-	3	2	NCOR1	15892979	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	0.925000	0.28791	-0.126000	0.11682	-0.136000	0.14681	TAC		PASS	0.522	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		19	74	19	74	---	---	---	---
TVP23B	51030	broad.mit.edu	37	17	18694245	18694245	+	Silent	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:18694245A>T	ENST00000307767.8	+	3	431	c.132A>T	c.(130-132)cgA>cgT	p.R44R	TVP23B_ENST00000574226.1_Silent_p.R44R|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	44						integral component of membrane (GO:0016021)		p.R44R(1)									TATTCTTTCGAGTCAGTGCAA	0.388																																						uc002gum.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)CGA>CGT		hypothetical protein LOC51030							175.0	172.0	173.0					17																	18694245		2203	4300	6503	SO:0001819	synonymous_variant	51030					integral to membrane		g.chr17:18694245A>T	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.132A>T	17.37:g.18694245A>T						FAM18B_uc002gun.2_5'UTR	p.R44R	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)	3	157	+			44			Helical; (Potential).		A8K448|Q96HK5|Q9Y3E6	Silent	SNP	ENST00000307767.8	37	c.132A>T	CCDS42274.1																																																																																				PASS	0.388	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		108	91	108	91	---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26881995	26881995	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:26881995C>T	ENST00000308360.7	-	11	1641	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	PIGS_ENST00000395346.2_Silent_p.E414E|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000543734.1_Silent_p.E361E	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	422					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.E422E(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCGGTCTAGCTCCCAGGTCA	0.587																																						uc002hbo.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|urinary_tract(1)|kidney(1)	4						c.(1264-1266)GAG>GAA		phosphatidylinositol glycan anchor biosynthesis,							76.0	64.0	68.0					17																	26881995		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26881995C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1266G>A	17.37:g.26881995C>T						UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.E414E|PIGS_uc010wap.1_Silent_p.E361E	p.E422E	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			11	1639	-	Lung NSC(42;0.00431)		422			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.1266G>A	CCDS11235.1																																																																																				PASS	0.587	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		9	35	9	35	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32961865	32961865	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:32961865G>A	ENST00000321639.5	+	8	1794	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	489						integral component of membrane (GO:0016021)		p.R489Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGAGCGGCGGCAGAGTGCA	0.622																																						uc002hif.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1465-1467)CGG>CAG		transmembrane protein 132E precursor							48.0	44.0	45.0					17																	32961865		2203	4299	6502	SO:0001583	missense	124842					integral to membrane		g.chr17:32961865G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1466G>A	17.37:g.32961865G>A	ENSP00000316532:p.Arg489Gln						p.R489Q	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1794	+			489			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1466G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718932	0.48622	.	.	ENSG00000181291	ENST00000321639	T	0.55588	0.51	5.29	4.31	0.51392	.	0.506983	0.21024	N	0.081451	T	0.39682	0.1087	L	0.52573	1.65	0.29039	N	0.885232	B	0.27765	0.188	B	0.21708	0.036	T	0.25813	-1.0121	10	0.14656	T	0.56	-21.5714	6.7316	0.23387	0.0957:0.1821:0.7222:0.0	.	489	Q6IEE7	T132E_HUMAN	Q	489	ENSP00000316532:R489Q	ENSP00000316532:R489Q	R	+	2	0	TMEM132E	29985978	0.999000	0.42202	0.997000	0.53966	0.839000	0.47603	3.272000	0.51616	1.454000	0.47793	0.549000	0.68633	CGG		PASS	0.622	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		6	15	6	15	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40845547	40845547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:40845547C>A	ENST00000264638.4	+	18	3202	c.2985C>A	c.(2983-2985)tgC>tgA	p.C995*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	995	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.C995*(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)		GGCCATACTGCAACCACGGTA	0.562																																						uc002iay.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2983-2985)TGC>TGA		contactin associated protein 1 precursor							106.0	100.0	102.0					17																	40845547		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40845547C>A	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.2985C>A	17.37:g.40845547C>A	ENSP00000264638:p.Cys995*					CNTNAP1_uc010wgs.1_RNA	p.C995*	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3201	+		Breast(137;0.000143)	995			EGF-like 2.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.2985C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	41	9.110889	0.99069	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.69	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1487	0.42780	0.0:0.7918:0.0:0.2082	.	.	.	.	X	995	.	ENSP00000264638:C995X	C	+	3	2	CNTNAP1	38099073	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	1.710000	0.37920	0.735000	0.32537	0.561000	0.74099	TGC		PASS	0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		22	131	22	131	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48267439	48267439	+	Missense_Mutation	SNP	C	C	T	rs199510546		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:48267439C>T	ENST00000225964.5	-	36	2600	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	828	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E828K(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCACCAGGTTCGCCTTTAGCA	0.657			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						C|||	1	0.000199681	0.0	0.0	5008	,	,		17976	0.001		0.0	False		,,,				2504	0.0					uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2482-2484)GAA>AAA		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						50.0	54.0	53.0					17																	48267439		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48267439C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2482G>A	17.37:g.48267439C>T	ENSP00000225964:p.Glu828Lys						p.E828K	NM_000088	NP_000079	P02452	CO1A1_HUMAN			36	2608	-			828			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.2482G>A	CCDS11561.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.4	4.733535	0.89482	.	.	ENSG00000108821	ENST00000225964	D	0.93247	-3.19	5.08	5.08	0.68730	.	0.063058	0.64402	D	0.000010	D	0.96140	0.8742	M	0.67517	2.055	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.96664	0.9491	10	0.87932	D	0	.	17.2265	0.86972	0.0:1.0:0.0:0.0	.	828	P02452	CO1A1_HUMAN	K	828	ENSP00000225964:E828K	ENSP00000225964:E828K	E	-	1	0	COL1A1	45622438	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.770000	0.85390	2.374000	0.81015	0.313000	0.20887	GAA		PASS	0.657	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			13	81	13	81	---	---	---	---
SMG8	55181	broad.mit.edu	37	17	57288727	57288727	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:57288727C>T	ENST00000543872.2	+	2	1579	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	SMG8_ENST00000300917.5_Missense_Mutation_p.H439Y|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.H439Y			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	439					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.H439Y(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACAGCCTTCCCATTTTGAACT	0.478																																						uc002ixi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)CAT>TAT		SMG8 protein							66.0	64.0	64.0					17																	57288727		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288727C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1315C>T	17.37:g.57288727C>T	ENSP00000438748:p.His439Tyr						p.H439Y	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	1357	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		439					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1315C>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692346	0.68271	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.51574	0.7;0.7	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.66939	2.045	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.63065	-0.6720	10	0.36615	T	0.2	-18.7012	19.2777	0.94039	0.0:1.0:0.0:0.0	.	439	Q8ND04	SMG8_HUMAN	Y	439	ENSP00000300917:H439Y;ENSP00000438748:H439Y	ENSP00000300917:H439Y	H	+	1	0	SMG8	54643509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CAT		PASS	0.478	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		36	107	36	107	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66873754	66873754	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:66873754C>T	ENST00000269080.2	-	31	4122	c.3985G>A	c.(3985-3987)Gcg>Acg	p.A1329T	ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369T|ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1329T(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGCCACAGCGCGTTCTCCTGA	0.597																																						uc002jhp.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(1)	3						c.(3985-3987)GCG>ACG		ATP-binding cassette, sub-family A member 8							138.0	118.0	125.0					17																	66873754		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873754C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3985G>A	17.37:g.66873754C>T	ENSP00000269080:p.Ala1329Thr					ABCA8_uc002jhq.2_Missense_Mutation_p.A1369T|ABCA8_uc010wqq.1_Missense_Mutation_p.A1364T	p.A1329T	NM_007168	NP_009099	O94911	ABCA8_HUMAN			31	4164	-	Breast(10;4.56e-13)		1329			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3985G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867711	0.32977	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.93426	-3.22;-3.22	4.34	2.17	0.27698	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.455820	0.18056	N	0.153094	D	0.85673	0.5751	L	0.28192	0.835	0.26055	N	0.981424	B;B;B	0.18166	0.026;0.024;0.026	B;B;B	0.21917	0.037;0.024;0.025	T	0.76780	-0.2833	10	0.66056	D	0.02	.	3.1347	0.06435	0.1493:0.4633:0.2869:0.1006	.	1369;1369;1329	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	T	1329;1369	ENSP00000269080:A1329T;ENSP00000402814:A1369T	ENSP00000269080:A1329T	A	-	1	0	ABCA8	64385349	0.052000	0.20516	0.012000	0.15200	0.600000	0.36913	0.695000	0.25527	1.192000	0.43071	0.637000	0.83480	GCG		PASS	0.597	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		40	210	40	210	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71427679	71427679	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:71427679C>G	ENST00000392650.3	-	11	1442	c.1442G>C	c.(1441-1443)cGg>cCg	p.R481P	SDK2_ENST00000388726.3_Missense_Mutation_p.R481P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	481	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R481P(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATCGACCCCCCGAGAGTTGGT	0.602																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1441-1443)CGG>CCG		sidekick 2							156.0	153.0	154.0					17																	71427679		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71427679C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1442G>C	17.37:g.71427679C>G	ENSP00000376421:p.Arg481Pro					SDK2_uc010dfn.2_Missense_Mutation_p.R160P	p.R481P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			11	1442	-			481			Ig-like C2-type 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.1442G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031499	0.75504	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.66995	-0.24;-0.24	4.93	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.065910	0.64402	D	0.000018	T	0.65291	0.2677	N	0.20986	0.625	0.58432	D	0.999999	P;P	0.47484	0.781;0.896	B;P	0.51701	0.411;0.677	T	0.67719	-0.5598	10	0.45353	T	0.12	.	17.729	0.88372	0.0:1.0:0.0:0.0	.	481;481	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	P	105;481;481;481	ENSP00000376421:R481P;ENSP00000373378:R481P	ENSP00000324967:R481P	R	-	2	0	SDK2	68939274	0.999000	0.42202	0.939000	0.37840	0.886000	0.51366	4.315000	0.59172	2.269000	0.75478	0.467000	0.42956	CGG		PASS	0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		36	361	36	361	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74004655	74004655	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:74004655T>C	ENST00000301607.3	-	22	4884	c.4631A>G	c.(4630-4632)aAc>aGc	p.N1544S	EVPL_ENST00000586740.1_Missense_Mutation_p.N1566S|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1544	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.N1544S(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGCTCCCTGTTGAGCATCTC	0.672																																						uc002jqi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(4630-4632)AAC>AGC		envoplakin							62.0	48.0	53.0					17																	74004655		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004655T>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4631A>G	17.37:g.74004655T>C	ENSP00000301607:p.Asn1544Ser					EVPL_uc010wss.1_Missense_Mutation_p.N1566S|EVPL_uc010wst.1_Missense_Mutation_p.N1014S	p.N1544S	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	4859	-			1544			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4631A>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.096462	0.00034	.	.	ENSG00000167880	ENST00000301607	T	0.44083	0.93	4.88	-4.16	0.03869	.	0.905706	0.09755	N	0.759991	T	0.20333	0.0489	N	0.16743	0.435	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.29274	-1.0017	10	0.14252	T	0.57	-18.5961	7.4615	0.27298	0.0:0.3029:0.4373:0.2598	.	1566;1544	B7ZLH8;Q92817	.;EVPL_HUMAN	S	1544	ENSP00000301607:N1544S	ENSP00000301607:N1544S	N	-	2	0	EVPL	71516250	0.000000	0.05858	0.011000	0.14972	0.035000	0.12851	-0.958000	0.03857	-1.213000	0.02617	-1.271000	0.01417	AAC		PASS	0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		10	48	10	48	---	---	---	---
FOXK2	3607	broad.mit.edu	37	17	80477930	80477930	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:80477930A>T	ENST00000335255.5	+	1	340	c.166A>T	c.(166-168)Atc>Ttc	p.I56F		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	56	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I56F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CTCGGTGACCATCGGCCGCAA	0.741																																						uc002kfn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)ATC>TTC		forkhead box K2							30.0	35.0	33.0					17																	80477930		2187	4279	6466	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80477930A>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.166A>T	17.37:g.80477930A>T	ENSP00000335677:p.Ile56Phe					FOXK2_uc002kfm.1_Missense_Mutation_p.I56F|FOXK2_uc010diu.2_Missense_Mutation_p.I56F	p.I56F	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	337	+	Breast(20;0.00106)|all_neural(118;0.0952)		56	AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).		FHA.|Gly-rich.		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.166A>T	CCDS11813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.71|14.71	2.616188|2.616188	0.46631|0.46631	.|.	.|.	ENSG00000141568|ENSG00000141568	ENST00000535184|ENST00000335255;ENST00000335241	.|T	.|0.48522	.|0.81	3.51|3.51	2.43|2.43	0.29744|0.29744	.|Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.|0.083721	.|0.46442	.|U	.|0.000285	T|T	0.65249|0.65249	0.2673|0.2673	M|M	0.81112|0.81112	2.525|2.525	0.37501|0.37501	D|D	0.916779|0.916779	.|D;D;D	.|0.71674	.|0.997;0.998;0.987	.|D;D;D	.|0.72625	.|0.962;0.978;0.94	T|T	0.69168|0.69168	-0.5216|-0.5216	6|10	0.62326|0.87932	D|D	0.03|0	.|.	8.6996|8.6996	0.34318|0.34318	0.9068:0.0:0.0932:0.0|0.9068:0.0:0.0932:0.0	.|.	.|56;56;56	.|Q01167-3;Q01167;Q01167-2	.|.;FOXK2_HUMAN;.	L|F	52|56	.|ENSP00000335677:I56F	ENSP00000443080:H52L|ENSP00000334321:I56F	H|I	+|+	2|1	0|0	FOXK2|FOXK2	78071219|78071219	1.000000|1.000000	0.71417|0.71417	0.745000|0.745000	0.31077|0.31077	0.052000|0.052000	0.14988|0.14988	2.319000|2.319000	0.43788|0.43788	0.444000|0.444000	0.26612|0.26612	-0.455000|-0.455000	0.05494|0.05494	CAT|ATC		PASS	0.741	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		29	44	29	44	---	---	---	---
CIDEA	1149	broad.mit.edu	37	18	12277260	12277260	+	Silent	SNP	G	G	T	rs147817564		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:12277260G>T	ENST00000320477.9	+	5	716	c.651G>T	c.(649-651)acG>acT	p.T217T	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	217					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.T251T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCAGGTTCACGTGTGGATAGG	0.537																																						uc002kqt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(649-651)ACG>ACT		cell death-inducing DFFA-like effector a isoform							77.0	67.0	70.0					18																	12277260		2203	4300	6503	SO:0001819	synonymous_variant	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12277260G>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.651G>T	18.37:g.12277260G>T						CIDEA_uc002kqu.3_Silent_p.T251T|CIDEA_uc010dlc.2_RNA	p.T217T	NM_001279	NP_001270	O60543	CIDEA_HUMAN			5	716	+			217					B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	c.651G>T	CCDS11856.1																																																																																				PASS	0.537	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		31	59	31	59	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29496235	29496235	+	Splice_Site	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:29496235C>T	ENST00000283351.4	-	4	952	c.617G>A	c.(616-618)aGa>aAa	p.R206K	TRAPPC8_ENST00000582513.1_Splice_Site_p.R206K|TRAPPC8_ENST00000582539.1_Splice_Site_p.R152K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	206					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.R206K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAAACTTACCTCTGTTCATC	0.284																																						uc002kxc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)AGA>AAA		hypothetical protein LOC22878							53.0	50.0	51.0					18																	29496235		2203	4300	6503	SO:0001630	splice_region_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29496235C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.617+1G>A	18.37:g.29496235C>T						KIAA1012_uc002kxb.3_Missense_Mutation_p.R152K|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.R206K	p.R206K	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			4	981	-			206					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.617G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765559	0.49574	.	.	ENSG00000153339	ENST00000283351	T	0.16597	2.33	5.35	5.35	0.76521	.	0.050282	0.85682	D	0.000000	T	0.09512	0.0234	N	0.05351	-0.065	0.58432	D	0.999992	B;B	0.06786	0.001;0.001	B;B	0.15484	0.007;0.013	T	0.27054	-1.0085	9	.	.	.	.	14.9675	0.71204	0.0:0.8575:0.1425:0.0	.	206;206	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	K	206	ENSP00000283351:R206K	.	R	-	2	0	TRAPPC8	27750233	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.653000	0.67967	2.665000	0.90641	0.585000	0.79938	AGA		PASS	0.284	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Missense_Mutation	24	25	24	25	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31326458	31326458	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:31326458C>A	ENST00000269197.5	+	12	6646	c.6646C>A	c.(6646-6648)Cgg>Agg	p.R2216R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2216					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.R2216R(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGCTCTTGCCGGCTGAAAGC	0.507																																						uc010dmg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6646-6648)CGG>AGG		additional sex combs like 3							88.0	91.0	90.0					18																	31326458		1991	4179	6170	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326458C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6646C>A	18.37:g.31326458C>A						ASXL3_uc002kxq.2_Silent_p.R1923R	p.R2216R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6701	+			2216			PHD-type; atypical.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.6646C>A	CCDS45847.1																																																																																				PASS	0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			35	47	35	47	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31463262	31463262	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:31463262T>A	ENST00000261592.5	-	10	1966	c.1669A>T	c.(1669-1671)Agt>Tgt	p.S557C	NOL4_ENST00000538587.1_Missense_Mutation_p.S483C|NOL4_ENST00000269185.4_Missense_Mutation_p.S341C|NOL4_ENST00000589544.1_Missense_Mutation_p.S455C|NOL4_ENST00000535384.1_Missense_Mutation_p.S272C|NOL4_ENST00000535475.1_Missense_Mutation_p.S338C	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	557						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.S557C(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCTCTGTAACTATGGTAACTA	0.428																																						uc010dmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1669-1671)AGT>TGT		nucleolar protein 4							192.0	166.0	174.0					18																	31463262		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31463262T>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1669A>T	18.37:g.31463262T>A	ENSP00000261592:p.Ser557Cys					NOL4_uc010xbs.1_Missense_Mutation_p.S272C|NOL4_uc002kxr.3_Missense_Mutation_p.S329C|NOL4_uc010xbt.1_Missense_Mutation_p.S483C|NOL4_uc010dmh.2_Missense_Mutation_p.S419C|NOL4_uc010xbu.1_Missense_Mutation_p.S493C|NOL4_uc002kxt.3_Missense_Mutation_p.S455C	p.S557C	NM_003787	NP_003778	O94818	NOL4_HUMAN			10	1898	-			557					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1669A>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212075	0.79240	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.78	5.78	0.91487	.	0.200179	0.45361	D	0.000377	T	0.67126	0.2860	L	0.34521	1.04	0.41182	D	0.986249	P;P;P;P;D;D	0.69078	0.846;0.755;0.755;0.846;0.99;0.997	P;P;B;P;D;D	0.74674	0.54;0.54;0.416;0.54;0.984;0.972	T	0.69975	-0.4999	9	0.59425	D	0.04	-12.9459	16.1041	0.81209	0.0:0.0:0.0:1.0	.	272;483;557;272;455;338	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	C	557;341;272;338;483	.	ENSP00000261592:S557C	S	-	1	0	NOL4	29717260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.829000	0.69316	2.201000	0.70794	0.460000	0.39030	AGT		PASS	0.428	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		96	108	96	108	---	---	---	---
SIGLEC15	284266	broad.mit.edu	37	18	43418836	43418836	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:43418836G>A	ENST00000389474.3	+	4	867	c.650G>A	c.(649-651)gGt>gAt	p.G217D	SIGLEC15_ENST00000546268.1_Missense_Mutation_p.G63D|SIGLEC15_ENST00000587418.1_5'UTR|SIGLEC15_ENST00000602118.2_3'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	217	Ig-like C2-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)		p.G217D(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCGCGTGAGGGTCACGGCCAC	0.746																																						uc002lbl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)GGT>GAT		sialic acid binding Ig-like lectin 15 precursor							7.0	9.0	8.0					18																	43418836		2115	4179	6294	SO:0001583	missense	284266					integral to membrane		g.chr18:43418836G>A	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.650G>A	18.37:g.43418836G>A	ENSP00000374125:p.Gly217Asp					SIGLEC15_uc010xcp.1_RNA	p.G217D	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN			4	799	+			217			Extracellular (Potential).|Ig-like C2-type.		A8K2Y5|B4DVQ9	Missense_Mutation	SNP	ENST00000389474.3	37	c.650G>A	CCDS32819.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.157392	0.01686	.	.	ENSG00000197046	ENST00000389474;ENST00000546268	T;T	0.74842	2.62;-0.88	4.08	2.23	0.28157	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.667583	0.15105	N	0.280296	T	0.48714	0.1515	N	0.11131	0.1	0.18873	N	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.11485	T	0.65	-1.4977	6.3034	0.21125	0.1817:0.1494:0.669:0.0	.	217	Q6ZMC9	SIG15_HUMAN	D	217;63	ENSP00000374125:G217D;ENSP00000443509:G63D	ENSP00000374125:G217D	G	+	2	0	SIGLEC15	41672834	0.827000	0.29292	0.003000	0.11579	0.055000	0.15305	1.334000	0.33827	0.369000	0.24510	0.462000	0.41574	GGT		PASS	0.746	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602		7	0	7	0	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44555221	44555221	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:44555221C>A	ENST00000330682.2	-	1	1228	c.993G>T	c.(991-993)caG>caT	p.Q331H	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	331	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q331H(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCACCTGGAGCTGGCAGGCAG	0.657																																						uc010xdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)CAG>CAT		transcription elongation factor B polypeptide							29.0	30.0	30.0					18																	44555221		1481	3018	4499	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555221C>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.993G>T	18.37:g.44555221C>A	ENSP00000328232:p.Gln331His					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.Q331H	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1229	-			331			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.993G>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	2.316	-0.356714	0.05138	.	.	ENSG00000183791	ENST00000330682	T	0.11821	2.74	1.04	-2.08	0.07254	.	0.590596	0.13999	U	0.348235	T	0.08179	0.0204	L	0.44542	1.39	0.09310	N	1	P	0.50156	0.932	B	0.38106	0.265	T	0.14008	-1.0488	10	0.42905	T	0.14	-4.8948	2.9325	0.05804	0.0:0.3854:0.236:0.3786	.	331	Q8NG57	ELOA3_HUMAN	H	331	ENSP00000328232:Q331H	ENSP00000328232:Q331H	Q	-	3	2	TCEB3C	42809219	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.133000	0.03232	-1.546000	0.01717	-2.074000	0.00383	CAG		PASS	0.657	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		24	505	24	505	---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61570219	61570219	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:61570219C>G	ENST00000299502.4	+	8	1008	c.928C>G	c.(928-930)Ccc>Gcc	p.P310A	SERPINB2_ENST00000457692.1_Missense_Mutation_p.P310A	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	310					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P310A(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GGTATACATACCCCAGTTCAA	0.433																																						uc010xeu.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(928-930)CCC>GCC		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						91.0	86.0	87.0					18																	61570219		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570219C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.928C>G	18.37:g.61570219C>G	ENSP00000299502:p.Pro310Ala					SERPINB2_uc002ljo.2_Missense_Mutation_p.P310A|SERPINB2_uc010dqh.2_Missense_Mutation_p.P240A|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.P310A	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			9	1261	+		Esophageal squamous(42;0.131)	310					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.928C>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717879	0.68844	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	T;T	0.62639	0.01;0.01	5.42	5.42	0.78866	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93215	0.6603	10	0.87932	D	0	.	18.56	0.91096	0.0:1.0:0.0:0.0	.	310	P05120	PAI2_HUMAN	A	310	ENSP00000299502:P310A;ENSP00000401645:P310A	ENSP00000299502:P310A	P	+	1	0	SERPINB2	59721199	1.000000	0.71417	0.450000	0.26969	0.394000	0.30568	7.776000	0.85560	2.695000	0.91970	0.557000	0.71058	CCC		PASS	0.433	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		26	79	26	79	---	---	---	---
TIMM21	29090	broad.mit.edu	37	18	71816224	71816224	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr18:71816224A>T	ENST00000169551.6	+	1	479	c.181A>T	c.(181-183)Acc>Tcc	p.T61S	FBXO15_ENST00000419743.2_5'Flank|FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Missense_Mutation_p.T61S	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	61					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)		p.T61S(1)									TCTTGGAGTCACCCAGAAAAC	0.517																																						uc010dqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)ACC>TCC		hypothetical protein LOC29090 precursor							107.0	116.0	113.0					18																	71816224		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816224A>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.181A>T	18.37:g.71816224A>T	ENSP00000169551:p.Thr61Ser					FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	p.T61S	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN			1	479	+		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)	61					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.181A>T	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	A	8.787	0.929730	0.18131	.	.	ENSG00000075336	ENST00000169551	T	0.42513	0.97	4.74	-4.52	0.03472	.	0.690253	0.14275	N	0.329900	T	0.20129	0.0484	L	0.38838	1.175	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23655	-1.0182	10	0.14252	T	0.57	-2.8693	1.1901	0.01863	0.255:0.1342:0.3484:0.2624	.	61	Q9BVV7	TI21L_HUMAN	S	61	ENSP00000169551:T61S	ENSP00000169551:T61S	T	+	1	0	C18orf55	69967204	0.000000	0.05858	0.008000	0.14137	0.405000	0.30901	-0.896000	0.04114	-0.563000	0.06078	0.528000	0.53228	ACC		PASS	0.517	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		11	136	11	136	---	---	---	---
AES	166	broad.mit.edu	37	19	3053947	3053947	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:3053947G>C	ENST00000327141.4	-	7	820	c.464C>G	c.(463-465)cCg>cGg	p.P155R	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Missense_Mutation_p.P99R|AES_ENST00000221561.8_Missense_Mutation_p.P222R|AES_ENST00000592330.1_Intron	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	155	Gly/Pro-rich (GP domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P222R(1)		lung(8)	8		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)		GCTGACCGCCGGCAGCGAAGG	0.701																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)CCG>CGG		amino-terminal enhancer of split isoform b							17.0	17.0	17.0					19																	3053947		2188	4264	6452	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3053947G>C	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.464C>G	19.37:g.3053947G>C	ENSP00000317537:p.Pro155Arg					AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.P154R|AES_uc002lxa.1_Missense_Mutation_p.P99R|AES_uc002lxb.1_Missense_Mutation_p.P222R|AES_uc002lxc.2_Silent_p.A248A	p.P155R	NM_001130	NP_001121	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	637	-		Hepatocellular(1079;0.137)	155			Gly/Pro-rich (GP domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.464C>G	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	g	12.57	1.977884	0.34942	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.34472	1.36;1.36	3.66	2.6	0.31112	.	0.000000	0.85682	U	0.000000	T	0.56441	0.1985	M	0.74881	2.28	0.51482	D	0.999921	B;D	0.89917	0.075;1.0	B;D	0.91635	0.021;0.999	T	0.56768	-0.7924	10	0.59425	D	0.04	.	10.7318	0.46100	0.0:0.1957:0.8042:0.0	.	222;155	Q14CJ1;Q08117	.;AES_HUMAN	R	222;155	ENSP00000221561:P222R;ENSP00000317537:P155R	ENSP00000221561:P222R	P	-	2	0	AES	3004947	1.000000	0.71417	0.398000	0.26321	0.016000	0.09150	9.024000	0.93689	0.508000	0.28173	-0.165000	0.13383	CCG		PASS	0.701	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		7	8	7	8	---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	C	G	rs375158491		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:6479048C>G	ENST00000381480.2	-	5	308	c.196G>C	c.(196-198)Gtg>Ctg	p.V66L	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632																																						uc002mfe.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(196-198)GTG>CTG		DENN/MADD domain containing 1C							49.0	60.0	57.0					19																	6479048		1934	4131	6065	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6479048C>G	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.196G>C	19.37:g.6479048C>G	ENSP00000370889:p.Val66Leu					DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.V22L	p.V66L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			5	288	-			66			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.196G>C	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912495	0.72983	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.41400	1.0;1.0	5.24	5.24	0.73138	uDENN (3);	0.704654	0.13525	N	0.381405	T	0.60353	0.2262	M	0.80422	2.495	0.21553	N	0.999644	P	0.42993	0.797	P	0.51055	0.657	T	0.55224	-0.8174	10	0.41790	T	0.15	-14.6092	16.2903	0.82747	0.0:1.0:0.0:0.0	.	66	Q8IV53	DEN1C_HUMAN	L	66;22	ENSP00000370889:V66L;ENSP00000437805:V22L	ENSP00000370889:V66L	V	-	1	0	DENND1C	6430048	0.894000	0.30519	0.025000	0.17156	0.826000	0.46750	5.660000	0.68018	2.459000	0.83118	0.313000	0.20887	GTG		PASS	0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		32	87	32	87	---	---	---	---
ZNF177	7730	broad.mit.edu	37	19	9492293	9492293	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:9492293G>A	ENST00000589262.1	+	6	1352	c.1286G>A	c.(1285-1287)tGt>tAt	p.C429Y	ZNF177_ENST00000343499.4_Missense_Mutation_p.C269Y|ZNF177_ENST00000541595.2_Missense_Mutation_p.C269Y|ZNF177_ENST00000602738.1_Missense_Mutation_p.C269Y|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.C429Y|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	429					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C429Y(1)|p.C269Y(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TGTAAAGAATGTGGGAAGGCC	0.438																																						uc002mli.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(805-807)TGT>TAT		zinc finger protein 177							120.0	123.0	122.0					19																	9492293		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492293G>A	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1286G>A	19.37:g.9492293G>A	ENSP00000468531:p.Cys429Tyr					ZNF177_uc002mlj.2_Missense_Mutation_p.C219Y|ZNF177_uc002mlk.2_Missense_Mutation_p.C269Y	p.C269Y	NM_003451	NP_003442	Q13360	ZN177_HUMAN			12	1469	+			269			C2H2-type 6.		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.806G>A	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442524	0.63067	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	D;D;D	0.85861	-2.04;-2.04;-2.04	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93301	0.7865	M	0.93898	3.47	0.27048	N	0.963847	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95443	0.8527	8	0.87932	D	0	.	11.1283	0.48333	0.0:0.0:1.0:0.0	.	429;269	B4DY57;Q13360	.;ZN177_HUMAN	Y	269;269;429	ENSP00000445323:C269Y;ENSP00000341497:C269Y;ENSP00000415070:C429Y	ENSP00000341497:C269Y	C	+	2	0	ZNF177	9353293	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.068000	0.71201	1.718000	0.51419	0.563000	0.77884	TGT		PASS	0.438	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		78	126	78	126	---	---	---	---
ZNF121	7675	broad.mit.edu	37	19	9677208	9677208	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:9677208T>A	ENST00000586602.1	-	6	997	c.581A>T	c.(580-582)cAt>cTt	p.H194L	ZNF121_ENST00000320451.6_Missense_Mutation_p.H194L			P58317	ZN121_HUMAN	zinc finger protein 121	194					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.H194L(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTCTCCAGTATGAATTCTTAC	0.448																																						uc010xkp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(580-582)CAT>CTT		zinc finger protein 121							66.0	63.0	64.0					19																	9677208		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677208T>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.581A>T	19.37:g.9677208T>A	ENSP00000468643:p.His194Leu					ZNF121_uc010dwt.2_Missense_Mutation_p.H194L|ZNF121_uc010xkq.1_Missense_Mutation_p.H194L	p.H194L	NM_001008727	NP_001008727	P58317	ZN121_HUMAN			4	813	-			194			C2H2-type 4.			Missense_Mutation	SNP	ENST00000586602.1	37	c.581A>T		.	.	.	.	.	.	.	.	.	.	T	17.08	3.297939	0.60086	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.67345	-0.26	1.3	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79076	0.4385	H	0.94620	3.56	0.32786	N	0.501815	P	0.48016	0.904	P	0.52189	0.692	T	0.82135	-0.0607	9	0.87932	D	0	.	6.6906	0.23169	0.0:0.0:0.0:1.0	.	194	P58317	ZN121_HUMAN	L	194	ENSP00000326967:H194L	ENSP00000326967:H194L	H	-	2	0	ZNF121	9538208	1.000000	0.71417	0.390000	0.26220	0.335000	0.28730	4.695000	0.61767	0.853000	0.35312	0.402000	0.26972	CAT		PASS	0.448	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		3	130	3	130	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10131415	10131415	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:10131415C>T	ENST00000171214.1	+	4	722	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RDH8_ENST00000591589.1_Missense_Mutation_p.S178F	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	158					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.S158F(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TATGCAGCTTCCAAGTTCGCC	0.577																																						uc002mmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(472-474)TCC>TTC		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						85.0	71.0	76.0					19																	10131415		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131415C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.473C>T	19.37:g.10131415C>T	ENSP00000171214:p.Ser158Phe						p.S158F	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	722	+			158					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.473C>T		.	.	.	.	.	.	.	.	.	.	C	26.4	4.734953	0.89482	.	.	ENSG00000080511	ENST00000171214	D	0.90732	-2.72	5.23	5.23	0.72850	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97924	1.0316	10	0.87932	D	0	.	16.2982	0.82786	0.0:1.0:0.0:0.0	.	158	Q9NYR8	RDH8_HUMAN	F	158	ENSP00000171214:S158F	ENSP00000171214:S158F	S	+	2	0	RDH8	9992415	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.400000	0.79949	2.440000	0.82611	0.655000	0.94253	TCC		PASS	0.577	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				5	39	5	39	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10782046	10782046	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:10782046G>A	ENST00000590261.1	+	3	246	c.246G>A	c.(244-246)acG>acA	p.T82T	ILF3_ENST00000449870.1_Silent_p.T82T|ILF3_ENST00000589998.1_Silent_p.T82T|ILF3_ENST00000592763.1_Silent_p.T82T|ILF3_ENST00000318511.3_Silent_p.T82T|ILF3_ENST00000420083.1_Silent_p.T82T|ILF3_ENST00000407004.3_Silent_p.T82T|ILF3_ENST00000588657.1_Silent_p.T82T|ILF3_ENST00000250241.8_Silent_p.T82T			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	82	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T82T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AACAGAAGACGGAGCACATGA	0.582																																						uc002mpn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(244-246)ACG>ACA		interleukin enhancer binding factor 3 isoform a							134.0	135.0	135.0					19																	10782046		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10782046G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.246G>A	19.37:g.10782046G>A						ILF3_uc002mpm.2_Silent_p.T82T|ILF3_uc002mpl.2_Silent_p.T82T|ILF3_uc002mpk.2_Silent_p.T82T|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.T82T	p.T82T	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		4	563	+			82					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.246G>A	CCDS12246.1																																																																																				PASS	0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			78	185	78	185	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256217	12256217	+	Silent	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:12256217T>C	ENST00000355738.1	-	4	1165	c.816A>G	c.(814-816)aaA>aaG	p.K272K	ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Silent_p.K338K|ZNF625_ENST00000542938.1_Silent_p.K272K|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	272					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.K272K(1)|p.K338K(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						ATCCAAAGGCTTTACCACATT	0.473																																						uc002mth.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(814-816)AAA>AAG		zinc finger protein 625							111.0	109.0	110.0					19																	12256217		2203	4300	6503	SO:0001819	synonymous_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256217T>C	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.816A>G	19.37:g.12256217T>C						ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.K306K	p.K272K	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	1166	-			272			C2H2-type 9.		A4FU45|I3L0E9	Silent	SNP	ENST00000355738.1	37	c.816A>G																																																																																					PASS	0.473	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		3	174	3	174	---	---	---	---
FBXW9	84261	broad.mit.edu	37	19	12805660	12805660	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:12805660G>C	ENST00000380339.3	-	2	538	c.502C>G	c.(502-504)Ctg>Gtg	p.L168V	FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Missense_Mutation_p.L168V|FBXW9_ENST00000587955.1_Missense_Mutation_p.L158V			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	168					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.L168V(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCTTCGGCCAGGCAGAAGTAT	0.657																																						uc010dyx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(472-474)CTG>GTG		F-box and WD-40 domain protein 9							32.0	39.0	37.0					19																	12805660		2064	4185	6249	SO:0001583	missense	84261						protein binding	g.chr19:12805660G>C	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.502C>G	19.37:g.12805660G>C	ENSP00000369696:p.Leu168Val					FBXW9_uc010xmp.1_Intron|FBXW9_uc002mum.1_Missense_Mutation_p.L168V|FBXW9_uc002mun.1_Intron	p.L158V	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			2	472	-			168					B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.472C>G		.	.	.	.	.	.	.	.	.	.	G	11.96	1.794089	0.31777	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.43294	2.28;0.95	4.91	-0.296	0.12824	.	0.083254	0.49916	D	0.000140	T	0.40743	0.1129	L	0.44542	1.39	0.80722	D	1	P;D	0.61697	0.837;0.99	P;P	0.55087	0.575;0.768	T	0.31166	-0.9953	10	0.12103	T	0.63	-13.8681	11.1447	0.48424	0.3252:0.0:0.6748:0.0	.	158;168	Q5XUX1-2;Q5XUX1-3	.;.	V	168	ENSP00000376945:L168V;ENSP00000369696:L168V	ENSP00000369696:L168V	L	-	1	2	FBXW9	12666660	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	1.799000	0.38824	0.136000	0.18733	-0.680000	0.03767	CTG		PASS	0.657	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		12	31	12	31	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17487871	17487871	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:17487871C>T	ENST00000252590.4	-	1	288	c.227G>A	c.(226-228)gGg>gAg	p.G76E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	76					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G76E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCGTGAGCCCTAGGAGCTG	0.612																																						uc002ngk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GGG>GAG		plasmalemma vesicle associated protein							114.0	97.0	103.0					19																	17487871		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487871C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.227G>A	19.37:g.17487871C>T	ENSP00000252590:p.Gly76Glu						p.G76E	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			1	277	-			76			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.227G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	6.842	0.524632	0.13066	.	.	ENSG00000130300	ENST00000252590	T	0.29142	1.58	4.77	-3.18	0.05186	.	1.331490	0.04554	N	0.390513	T	0.17450	0.0419	L	0.32530	0.975	0.09310	N	1	B	0.34103	0.437	B	0.38616	0.277	T	0.15492	-1.0435	10	0.05620	T	0.96	-33.2796	0.173	0.00115	0.3058:0.2609:0.1497:0.2836	.	76	Q9BX97	PLVAP_HUMAN	E	76	ENSP00000252590:G76E	ENSP00000252590:G76E	G	-	2	0	PLVAP	17348871	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.052000	0.03503	-0.085000	0.12573	0.561000	0.74099	GGG		PASS	0.612	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		11	64	11	64	---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17875189	17875189	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:17875189C>A	ENST00000596536.1	+	6	408	c.125C>A	c.(124-126)aCc>aAc	p.T42N	FCHO1_ENST00000594202.1_Missense_Mutation_p.T42N|FCHO1_ENST00000596951.1_Missense_Mutation_p.T42N|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000539407.1_Missense_Mutation_p.T42N|FCHO1_ENST00000389133.4_Missense_Mutation_p.T42N|FCHO1_ENST00000252771.7_Missense_Mutation_p.T42N|FCHO1_ENST00000595033.1_5'UTR|FCHO1_ENST00000600676.1_Missense_Mutation_p.T42N|FCHO1_ENST00000597512.1_Missense_Mutation_p.T49N	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	42	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.T42N(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCAGGGCCACCATCGAGGAG	0.622																																						uc010ebb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(124-126)ACC>AAC		FCH domain only 1 isoform b							50.0	48.0	49.0					19																	17875189		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17875189C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.125C>A	19.37:g.17875189C>A	ENSP00000470731:p.Thr42Asn					FCHO1_uc002nhg.3_Missense_Mutation_p.T42N|FCHO1_uc002nhh.2_Missense_Mutation_p.T42N|FCHO1_uc010xpw.1_5'UTR|FCHO1_uc010ebc.1_Missense_Mutation_p.T49N	p.T42N	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			5	314	+			42			FCH.		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.125C>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	7.933	0.741075	0.15642	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.41400	1.0;1.0;1.0	5.17	3.0	0.34707	Fps/Fes/Fer/CIP4 homology (3);	0.292817	0.37437	N	0.002082	T	0.31734	0.0806	L	0.43701	1.375	0.30077	N	0.809495	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.003	T	0.20605	-1.0270	10	0.31617	T	0.26	-15.9647	8.2989	0.32001	0.177:0.6524:0.1706:0.0	.	42;42	O14526;O14526-2	FCHO1_HUMAN;.	N	42	ENSP00000252771:T42N;ENSP00000373785:T42N;ENSP00000437978:T42N	ENSP00000252771:T42N	T	+	2	0	FCHO1	17736189	0.992000	0.36948	1.000000	0.80357	0.210000	0.24377	2.925000	0.48884	0.551000	0.29008	0.491000	0.48974	ACC		PASS	0.622	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		24	63	24	63	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18778613	18778613	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:18778613G>T	ENST00000300976.4	+	3	496	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Splice_Site	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	136								p.V136L(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGTGCAGGACGTGCTGGGCGC	0.657																																						uc002njz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)GTG>TTG		kelch-like 26							80.0	70.0	73.0					19																	18778613		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18778613G>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.406G>T	19.37:g.18778613G>T	ENSP00000300976:p.Val136Leu						p.V136L	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	433	+			136					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.406G>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811299	0.70797	.	.	ENSG00000167487	ENST00000300976	T	0.66995	-0.24	5.04	5.04	0.67666	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	N	0.20986	0.625	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.68830	-0.5305	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	136	Q53HC5	KLH26_HUMAN	L	136	ENSP00000300976:V136L	.	V	+	1	0	KLHL26	18639613	1.000000	0.71417	0.994000	0.49952	0.474000	0.32979	6.507000	0.73717	2.341000	0.79615	0.591000	0.81541	GTG		PASS	0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		37	65	37	65	---	---	---	---
DMKN	93099	broad.mit.edu	37	19	36002311	36002311	+	Splice_Site	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:36002311A>T	ENST00000339686.3	-	5	1095		c.e5+1		DMKN_ENST00000451297.2_Splice_Site|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000418261.1_Splice_Site|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000424570.2_Splice_Site|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000447113.2_Splice_Site|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000440396.1_Splice_Site|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000458071.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.?(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCCAAACTCACCCAGGAGGA	0.647																																						uc002nzm.3																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.e5+1		dermokine isoform 2 precursor							42.0	39.0	40.0					19																	36002311		2203	4300	6503	SO:0001630	splice_region_variant	93099					extracellular region		g.chr19:36002311A>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.918+1T>A	19.37:g.36002311A>T						DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_Intron|DMKN_uc002oac.3_Splice_Site_p.W306_splice|DMKN_uc010eeb.2_Splice_Site_p.W306_splice|DMKN_uc002oaa.3_Splice_Site_p.W306_splice|DMKN_uc002oab.3_Splice_Site_p.W306_splice	p.W306_splice	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	1101	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)							A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Splice_Site	SNP	ENST00000339686.3	37	c.918_splice	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736156	0.69189	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9026	0.35503	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMKN	40694151	0.949000	0.32298	0.950000	0.38849	0.632000	0.37999	2.303000	0.43646	1.886000	0.54624	0.459000	0.35465	.		PASS	0.647	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	Intron	14	45	14	45	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38102578	38102578	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:38102578G>A	ENST00000592533.1	+	5	729	c.397G>A	c.(397-399)Gga>Aga	p.G133R	ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000589117.1_Missense_Mutation_p.G101R|ZNF540_ENST00000316433.4_Missense_Mutation_p.G133R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G133R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	133					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G133R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTCAACAGGGACTTAAAGA	0.338																																						uc002ogq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(397-399)GGA>AGA		zinc finger protein 540							122.0	136.0	132.0					19																	38102578		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38102578G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.397G>A	19.37:g.38102578G>A	ENSP00000466274:p.Gly133Arg					ZNF540_uc002ogu.2_Missense_Mutation_p.G133R|ZNF540_uc010efq.2_Missense_Mutation_p.G101R	p.G133R	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	729	+			133					A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.397G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	4.469	0.086905	0.08583	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.08370	3.1	2.04	2.04	0.26737	.	.	.	.	.	T	0.05686	0.0149	N	0.25094	0.71	0.09310	N	1	B;B	0.26775	0.159;0.099	B;B	0.33042	0.157;0.075	T	0.44221	-0.9342	9	0.08599	T	0.76	.	7.4943	0.27479	0.0:0.0:1.0:0.0	.	101;133	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	133;101	ENSP00000324598:G133R	ENSP00000324598:G133R	G	+	1	0	ZNF540	42794418	0.000000	0.05858	0.008000	0.14137	0.400000	0.30750	0.601000	0.24119	1.116000	0.41820	0.313000	0.20887	GGA		PASS	0.338	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		39	247	39	247	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38103723	38103723	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:38103723G>C	ENST00000592533.1	+	5	1874	c.1542G>C	c.(1540-1542)caG>caC	p.Q514H	ZNF540_ENST00000589117.1_Missense_Mutation_p.Q482H|ZNF540_ENST00000316433.4_Missense_Mutation_p.Q514H|ZNF540_ENST00000343599.5_Missense_Mutation_p.Q514H	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	514					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.Q514H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGAACACCAGAGAATTCACA	0.358																																						uc002ogq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1540-1542)CAG>CAC		zinc finger protein 540							75.0	80.0	78.0					19																	38103723		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103723G>C	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1542G>C	19.37:g.38103723G>C	ENSP00000466274:p.Gln514His					ZNF540_uc002ogu.2_Missense_Mutation_p.Q514H|ZNF540_uc010efq.2_Missense_Mutation_p.Q482H	p.Q514H	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1874	+			514			C2H2-type 12.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1542G>C	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369906	0.82573	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.07567	3.18	2.39	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14570	0.0352	L	0.54863	1.705	0.30243	N	0.794826	P;D	0.58620	0.938;0.983	P;P	0.50825	0.519;0.651	T	0.05468	-1.0883	9	0.49607	T	0.09	.	11.8424	0.52361	0.0:0.0:1.0:0.0	.	482;514	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	H	514;482	ENSP00000324598:Q514H	ENSP00000324598:Q514H	Q	+	3	2	ZNF540	42795563	0.000000	0.05858	0.029000	0.17559	0.986000	0.74619	0.771000	0.26633	1.313000	0.45069	0.305000	0.20034	CAG		PASS	0.358	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		23	132	23	132	---	---	---	---
CEACAM6	4680	broad.mit.edu	37	19	42260847	42260847	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:42260847C>A	ENST00000199764.6	+	2	622	c.404C>A	c.(403-405)aCc>aAc	p.T135N	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	135	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T135N(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GAAGAAGCAACCGGACAGTTC	0.488																																						uc002orm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)ACC>AAC		carcinoembryonic antigen-related cell adhesion							288.0	281.0	283.0					19																	42260847		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260847C>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.404C>A	19.37:g.42260847C>A	ENSP00000199764:p.Thr135Asn						p.T135N	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	553	+			135			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.404C>A	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707885	0.30322	.	.	ENSG00000086548	ENST00000199764	T	0.65364	-0.15	1.49	1.49	0.22878	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78792	0.4339	M	0.91920	3.255	0.09310	N	1	P	0.47677	0.899	P	0.62649	0.905	T	0.65055	-0.6261	9	0.87932	D	0	.	6.3982	0.21624	0.0:1.0:0.0:0.0	.	135	P40199	CEAM6_HUMAN	N	135	ENSP00000199764:T135N	ENSP00000199764:T135N	T	+	2	0	CEACAM6	46952687	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.459000	0.06728	1.141000	0.42275	0.305000	0.20034	ACC		PASS	0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			139	333	139	333	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44933308	44933308	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:44933308C>G	ENST00000588931.1	-	6	2081	c.1648G>C	c.(1648-1650)Ggg>Cgg	p.G550R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.G544R|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	550					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.G550R(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGCTCTTCCCGCACTCGCAT	0.527																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1648-1650)GGG>CGG		zinc finger protein 229							76.0	83.0	81.0					19																	44933308		2182	4294	6476	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933308C>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1648G>C	19.37:g.44933308C>G	ENSP00000466519:p.Gly550Arg					ZNF229_uc010ejk.1_Missense_Mutation_p.G204R|ZNF229_uc010ejl.1_Missense_Mutation_p.G544R	p.G550R	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2082	-		Prostate(69;0.0352)	550			C2H2-type 9.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1648G>C	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797326	0.31777	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	2.45	0.29901	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66197	0.2765	M	0.75884	2.315	0.36253	D	0.854006	P	0.51933	0.949	P	0.53689	0.732	T	0.73723	-0.3893	8	0.87932	D	0	.	9.9284	0.41507	0.0:0.8941:0.0:0.1059	.	550	Q9UJW7	ZN229_HUMAN	R	550	.	ENSP00000291187:G550R	G	-	1	0	ZNF229	49625148	0.004000	0.15560	0.708000	0.30435	0.317000	0.28152	1.470000	0.35354	0.597000	0.29811	0.609000	0.83330	GGG		PASS	0.527	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		25	90	25	90	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49636538	49636538	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:49636538C>T	ENST00000334186.4	+	9	1420	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	PPFIA3_ENST00000602351.1_Silent_p.A357A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	357					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.A357A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGACGACGCCAAGCAGAAGC	0.682																																						uc002pmr.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1069-1071)GCC>GCT		PTPRF interacting protein alpha 3							29.0	32.0	31.0					19																	49636538		2199	4290	6489	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49636538C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1071C>T	19.37:g.49636538C>T						PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.A281A|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.A225A	p.A357A	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	9	1403	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	357			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.1071C>T	CCDS12758.1																																																																																				PASS	0.682	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		9	34	9	34	---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56180887	56180887	+	Silent	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:56180887G>C	ENST00000308924.4	+	11	1162	c.1122G>C	c.(1120-1122)ccG>ccC	p.P374P	CTD-2537I9.13_ENST00000592252.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Silent_p.P206P|U2AF2_ENST00000450554.2_Silent_p.P370P|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	374					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P374P(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCGGCCACCCGACTGAGGTCC	0.637																																						uc002qlu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1120-1122)CCG>CCC		U2 (RNU2) small nuclear RNA auxiliary factor 2							106.0	96.0	100.0					19																	56180887		2203	4300	6503	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180887G>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1122G>C	19.37:g.56180887G>C						U2AF2_uc002qlt.2_Silent_p.P370P	p.P374P	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2177	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	374					Q96HC5	Silent	SNP	ENST00000308924.4	37	c.1122G>C	CCDS12933.1																																																																																				PASS	0.637	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		12	9	12	9	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539242	56539242	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr19:56539242G>A	ENST00000390649.3	+	7	1643	c.1643G>A	c.(1642-1644)gGt>gAt	p.G548D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	548	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.G548D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTTTGACGGTGACGACCTC	0.547																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1642-1644)GGT>GAT		NACHT, LRR and PYD containing protein 5							60.0	63.0	62.0					19																	56539242		2131	4250	6381	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539242G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1643G>A	19.37:g.56539242G>A	ENSP00000375063:p.Gly548Asp					NLRP5_uc002qmi.2_Missense_Mutation_p.G529D	p.G548D	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1643	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	548			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1643G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130226	0.01756	.	.	ENSG00000171487	ENST00000390649	T	0.71341	-0.56	2.82	-0.673	0.11373	.	1.243760	0.06020	N	0.651147	T	0.50480	0.1618	N	0.25647	0.755	0.09310	N	1	B	0.18166	0.026	B	0.16289	0.015	T	0.21415	-1.0246	10	0.13470	T	0.59	.	3.0435	0.06146	0.2853:0.2357:0.479:0.0	.	548	P59047	NALP5_HUMAN	D	548	ENSP00000375063:G548D	ENSP00000375063:G548D	G	+	2	0	NLRP5	61231054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.214000	0.09292	-0.053000	0.13289	0.555000	0.69702	GGT		PASS	0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		16	9	16	9	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2560663	2560663	+	Silent	SNP	C	C	A	rs200715532		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:2560663C>A	ENST00000358864.1	+	7	810	c.795C>A	c.(793-795)gtC>gtA	p.V265V		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	265					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.V265V(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAACCTTGTCCTTTTTGGCT	0.403																																						uc002wgf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(793-795)GTC>GTA		transmembrane cochlear-expressed protein 2							217.0	195.0	202.0					20																	2560663		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2560663C>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.795C>A	20.37:g.2560663C>A						TMC2_uc002wgg.1_Silent_p.V249V|TMC2_uc010zpw.1_Silent_p.V97V|TMC2_uc010zpx.1_Silent_p.V96V	p.V265V	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			7	810	+			265			Helical; (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.795C>A	CCDS13029.2																																																																																				PASS	0.403	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			46	139	46	139	---	---	---	---
PRND	23627	broad.mit.edu	37	20	4705266	4705266	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:4705266G>T	ENST00000305817.2	+	2	140	c.69G>T	c.(67-69)gcG>gcT	p.A23A		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	23					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A23A(2)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						ACCTCTCTGCGGTCCAGACGA	0.632																																						uc002wkz.2																			2	Substitution - coding silent(2)		lung(1)|breast(1)		0						c.(67-69)GCG>GCT		prion-like protein doppel preproprotein							62.0	57.0	59.0					20																	4705266		2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705266G>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.69G>T	20.37:g.4705266G>T							p.A23A	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	140	+			23					A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.69G>T	CCDS13081.1																																																																																				PASS	0.632	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		35	65	35	65	---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17930812	17930812	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:17930812T>C	ENST00000377768.3	-	9	1067	c.755A>G	c.(754-756)cAt>cGt	p.H252R	SNX5_ENST00000377759.4_Missense_Mutation_p.H252R|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	252	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.H252R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AGCCAGGCTATGTAAGCAGGC	0.438																																						uc002wqc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(754-756)CAT>CGT		sorting nexin 5							94.0	86.0	89.0					20																	17930812		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17930812T>C	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.755A>G	20.37:g.17930812T>C	ENSP00000366998:p.His252Arg					SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.H252R|SNX5_uc002wqe.2_Missense_Mutation_p.H147R|SNX5_uc010zrt.1_Missense_Mutation_p.H252R	p.H252R	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN			8	841	-			252			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.755A>G	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046925	0.19748	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.28454	1.61;1.61;1.61;1.93	5.74	5.74	0.90152	Vps5 C-terminal (1);	0.218636	0.53938	D	0.000046	T	0.20210	0.0486	L	0.29908	0.895	0.35652	D	0.811881	B;B	0.11235	0.004;0.001	B;B	0.19946	0.027;0.016	T	0.25572	-1.0128	10	0.17369	T	0.5	-3.0938	7.4386	0.27171	0.0:0.0717:0.1444:0.7839	.	273;252	B7Z476;Q9Y5X3	.;SNX5_HUMAN	R	252;252;215;217	ENSP00000366998:H252R;ENSP00000366988:H252R;ENSP00000404448:H215R;ENSP00000406731:H217R	ENSP00000366988:H252R	H	-	2	0	SNX5	17878812	0.995000	0.38212	0.995000	0.50966	0.987000	0.75469	1.467000	0.35321	2.317000	0.78254	0.459000	0.35465	CAT		PASS	0.438	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			54	95	54	95	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23666577	23666577	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:23666577C>A	ENST00000217423.3	-	3	450	c.380G>T	c.(379-381)tGg>tTg	p.W127L		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	127					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.W127L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TCTGTCCTCCCAGGGAACTTC	0.542																																						uc002wto.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(379-381)TGG>TTG		cystatin S precursor							100.0	92.0	95.0					20																	23666577		2203	4300	6503	SO:0001583	missense	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23666577C>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.380G>T	20.37:g.23666577C>A	ENSP00000217423:p.Trp127Leu						p.W127L	NM_001899	NP_001890	P01036	CYTS_HUMAN			3	436	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		127					Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	c.380G>T	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813894	0.32053	.	.	ENSG00000101441	ENST00000217423	T	0.18810	2.19	1.94	0.974	0.19715	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	U	0.000000	T	0.37100	0.0991	M	0.90650	3.135	0.09310	N	0.999999	P	0.49696	0.927	P	0.53224	0.721	T	0.23084	-1.0198	10	0.87932	D	0	.	4.1029	0.10023	0.0:0.7815:0.0:0.2185	.	127	P01036	CYTS_HUMAN	L	127	ENSP00000217423:W127L	ENSP00000217423:W127L	W	-	2	0	CST4	23614577	0.612000	0.27000	0.003000	0.11579	0.017000	0.09413	2.080000	0.41586	0.368000	0.24481	0.205000	0.17691	TGG		PASS	0.542	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		29	44	29	44	---	---	---	---
GGTLC1	92086	broad.mit.edu	37	20	23967233	23967233	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:23967233A>C	ENST00000335694.4	-	2	220	c.16T>G	c.(16-18)Ttc>Gtc	p.F6V	GGTLC1_ENST00000286890.4_Missense_Mutation_p.F6V|GGTLC1_ENST00000278765.4_Missense_Mutation_p.F6V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	6					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.F6V(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGGCAGAGAAGAACTCGGAG	0.647																																						uc002wts.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(16-18)TTC>GTC		gamma-glutamyltransferase light chain 1							69.0	70.0	70.0					20																	23967233		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967233A>C	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.16T>G	20.37:g.23967233A>C	ENSP00000337587:p.Phe6Val					GGTLC1_uc002wtu.2_Missense_Mutation_p.F6V	p.F6V	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			2	149	-			6					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.16T>G	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	15.70	2.910936	0.52439	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.06449	3.3;3.3;3.3	0.844	0.844	0.18943	.	0.074523	0.56097	U	0.000031	T	0.09069	0.0224	M	0.76170	2.325	0.33705	D	0.615046	P	0.41041	0.736	B	0.41666	0.363	T	0.11542	-1.0583	10	0.59425	D	0.04	-38.0368	5.802	0.18420	0.9999:0.0:1.0E-4:0.0	.	6	Q9BX51	GGTL1_HUMAN	V	6	ENSP00000286890:F6V;ENSP00000278765:F6V;ENSP00000337587:F6V	ENSP00000278765:F6V	F	-	1	0	GGTLC1	23915233	1.000000	0.71417	0.022000	0.16811	0.022000	0.10575	4.133000	0.57983	0.077000	0.16863	0.076000	0.15429	TTC		PASS	0.647	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		19	90	19	90	---	---	---	---
ABHD12	26090	broad.mit.edu	37	20	25284237	25284237	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:25284237G>T	ENST00000339157.5	-	11	1250	c.978C>A	c.(976-978)ctC>ctA	p.L326L	ABHD12_ENST00000376542.3_Silent_p.L326L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	326					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.L326L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CGTGCAGGATGAGCAGGGGAC	0.612																																						uc002wus.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(976-978)CTC>CTA		abhydrolase domain containing 12 isoform a							104.0	72.0	83.0					20																	25284237		2203	4300	6503	SO:0001819	synonymous_variant	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25284237G>T	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.978C>A	20.37:g.25284237G>T						ABHD12_uc002wuq.2_Silent_p.L326L|ABHD12_uc002wur.2_Silent_p.L325L|ABHD12_uc002wut.1_Silent_p.L325L|ABHD12_uc002wuu.1_Silent_p.L106L	p.L326L	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN			11	1116	-			326			Extracellular (Potential).		A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	c.978C>A	CCDS42857.1																																																																																				PASS	0.612	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		34	83	34	83	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898384	30898384	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:30898384C>A	ENST00000375712.3	+	2	971	c.804C>A	c.(802-804)atC>atA	p.I268I	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	268	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.I268I(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTACCAAGATCAACCTCTCCC	0.502																																						uc002wxq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)	5						c.(802-804)ATC>ATA		kinesin family member 3B							95.0	90.0	91.0					20																	30898384		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898384C>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.804C>A	20.37:g.30898384C>A						KIF3B_uc010ztv.1_Silent_p.I268I|KIF3B_uc010ztw.1_Silent_p.I268I	p.I268I	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	971	+			268			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.804C>A	CCDS13200.1																																																																																				PASS	0.502	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		16	118	16	118	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37464809	37464809	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:37464809G>A	ENST00000299824.1	+	2	430	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A81T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	81					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.A81T(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAGGAACGACGCCGAGGAAGG	0.647																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(241-243)GCC>ACC		protein phosphatase 1 regulatory inhibitor							26.0	28.0	27.0					20																	37464809		2185	4285	6470	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37464809G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.241G>A	20.37:g.37464809G>A	ENSP00000299824:p.Ala81Thr					PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T	p.A81T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			2	430	+		Myeloproliferative disorder(115;0.00878)	81					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.241G>A	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758598	0.49468	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.64991	-0.13;-0.13	5.09	5.09	0.68999	Ankyrin repeat-containing domain (4);	0.132808	0.49305	D	0.000145	T	0.31040	0.0784	N	0.02775	-0.495	0.26061	N	0.981359	B;P	0.42973	0.424;0.796	B;B	0.36534	0.067;0.227	T	0.13791	-1.0496	10	0.18710	T	0.47	.	8.8608	0.35256	0.0783:0.277:0.6446:0.0	.	81;81	E9PFS8;Q96T49	.;PP16B_HUMAN	T	81	ENSP00000299824:A81T;ENSP00000362428:A81T	ENSP00000299824:A81T	A	+	1	0	PPP1R16B	36898223	0.001000	0.12720	1.000000	0.80357	0.920000	0.55202	0.426000	0.21363	2.357000	0.79964	0.561000	0.74099	GCC		PASS	0.647	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		11	71	11	71	---	---	---	---
L3MBTL1	26013	broad.mit.edu	37	20	42161437	42161437	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:42161437G>A	ENST00000427442.2	+	12	1402	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.V415M|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.V347M|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.V347M|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.V347M			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	347					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V415M(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGGCTTCCAGGTGGGCATGAA	0.607																																						uc010zwh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1243-1245)GTG>ATG		l(3)mbt-like isoform I							109.0	110.0	110.0					20																	42161437		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42161437G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1243G>A	20.37:g.42161437G>A	ENSP00000402107:p.Val415Met					L3MBTL_uc002xkl.2_Missense_Mutation_p.V347M|L3MBTL_uc002xkm.2_Missense_Mutation_p.V347M|L3MBTL_uc010ggl.2_Missense_Mutation_p.V347M|L3MBTL_uc002xkn.1_Missense_Mutation_p.V106M|L3MBTL_uc002xko.2_Translation_Start_Site	p.V415M	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1289	+		Myeloproliferative disorder(115;0.00452)	347			MBT 2.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1243G>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242788	0.58995	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.18	5.18	0.71444	.	0.344054	0.30830	N	0.008783	T	0.49609	0.1567	M	0.78344	2.41	0.44323	D	0.997204	P;P;P	0.40578	0.714;0.545;0.722	B;B;B	0.38712	0.219;0.203;0.28	T	0.57522	-0.7797	10	0.66056	D	0.02	.	11.6684	0.51387	0.0844:0.0:0.9156:0.0	.	415;347;347	Q9Y468-5;Q9Y468-2;Q9Y468-1	.;.;.	M	415;415;347;347;347;133	ENSP00000402107:V415M;ENSP00000398516:V415M;ENSP00000362227:V347M;ENSP00000403316:V347M;ENSP00000362226:V347M;ENSP00000410139:V133M	ENSP00000362226:V347M	V	+	1	0	L3MBTL1	41594851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.323000	0.72891	2.688000	0.91661	0.591000	0.81541	GTG		PASS	0.607	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		124	200	124	200	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48522387	48522387	+	Silent	SNP	C	C	T	rs376954971		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:48522387C>T	ENST00000422556.1	-	3	1681	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	SPATA2_ENST00000289431.5_Silent_p.P444P|SPATA2_ENST00000543716.1_Silent_p.P307P	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	444					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P444P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGTGAAGGTGCGGGAGGCGGT	0.652																																						uc010gie.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1330-1332)CCG>CCA		spermatogenesis associated 2		C	,	0,4406		0,0,2203	91.0	82.0	85.0		1332,1332	-9.2	0.0	20		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATA2	NM_001135773.1,NM_006038.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	444/521,444/521	48522387	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522387C>T	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1332G>A	20.37:g.48522387C>T						SPATA2_uc002xuw.2_Silent_p.P444P|SPATA2_uc010zyn.1_Silent_p.P307P	p.P444P	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1682	-	Hepatocellular(150;0.133)		444					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.1332G>A	CCDS13422.1																																																																																				PASS	0.652	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		27	133	27	133	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50245527	50245527	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:50245527C>T	ENST00000338821.5	-	16	2017	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	ATP9A_ENST00000311637.5_Missense_Mutation_p.E449K|ATP9A_ENST00000402822.1_Missense_Mutation_p.E464K	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	585					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E585K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCTCTTCCTCCAACCAGTCA	0.488																																						uc002xwg.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1753-1755)GAG>AAG		ATPase, class II, type 9A							231.0	188.0	202.0					20																	50245527		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50245527C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1753G>A	20.37:g.50245527C>T	ENSP00000342481:p.Glu585Lys					ATP9A_uc010gih.1_Missense_Mutation_p.E449K|ATP9A_uc002xwf.1_Intron	p.E585K	NM_006045	NP_006036	O75110	ATP9A_HUMAN			16	1753	-			585			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1753G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302753	0.95601	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.70399	-0.48;-0.48;-0.48	5.21	5.21	0.72293	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	L	0.50919	1.6	0.80722	D	1	P;P	0.41848	0.59;0.763	B;P	0.46208	0.111;0.507	T	0.76091	-0.3086	10	0.59425	D	0.04	-30.182	18.7535	0.91823	0.0:1.0:0.0:0.0	.	464;585	O75110-2;O75110	.;ATP9A_HUMAN	K	449;585;464	ENSP00000309086:E449K;ENSP00000342481:E585K;ENSP00000385875:E464K	ENSP00000309086:E449K	E	-	1	0	ATP9A	49678934	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.619000	0.83057	2.405000	0.81733	0.655000	0.94253	GAG		PASS	0.488	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		21	160	21	160	---	---	---	---
CABLES2	81928	broad.mit.edu	37	20	60967462	60967462	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:60967462C>T	ENST00000279101.5	-	8	1082	c.1074G>A	c.(1072-1074)acG>acA	p.T358T		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	358					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.T358T(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTTTGCTCAGCGTCAGTTTGA	0.527																																						uc002ycv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1072-1074)ACG>ACA		Cdk5 and Abl enzyme substrate 2							230.0	200.0	210.0					20																	60967462		2203	4300	6503	SO:0001819	synonymous_variant	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60967462C>T	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1074G>A	20.37:g.60967462C>T							p.T358T	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1081	-	Breast(26;2.05e-08)		358					Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	c.1074G>A	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	C	6.691	0.496164	0.12762	.	.	ENSG00000149679	ENST00000453274	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44559	-0.9320	4	.	.	.	-32.352	4.3882	0.11327	0.1347:0.2041:0.1356:0.5256	.	.	.	.	H	152	.	.	R	-	2	0	CABLES2	60400857	0.000000	0.05858	0.249000	0.24280	0.856000	0.48823	-4.509000	0.00223	-1.975000	0.00997	-0.768000	0.03414	CGC		PASS	0.527	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		27	122	27	122	---	---	---	---
CABLES2	81928	broad.mit.edu	37	20	60967492	60967492	+	Silent	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:60967492G>A	ENST00000279101.5	-	8	1052	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	348					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.F348F(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACTTCTCCCTGAAGGTCTCGT	0.572																																						uc002ycv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1042-1044)TTC>TTT		Cdk5 and Abl enzyme substrate 2							236.0	208.0	217.0					20																	60967492		2203	4300	6503	SO:0001819	synonymous_variant	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60967492G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1044C>T	20.37:g.60967492G>A							p.F348F	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1051	-	Breast(26;2.05e-08)		348					Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	c.1044C>T	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305819	0.23736	.	.	ENSG00000149679	ENST00000453274	.	.	.	5.64	2.3	0.28687	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53308	-0.8457	4	.	.	.	-38.9557	9.2265	0.37410	0.3718:0.0:0.6282:0.0	.	.	.	.	L	142	.	.	S	-	2	0	CABLES2	60400887	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.257000	0.43240	0.753000	0.32945	0.655000	0.94253	TCA		PASS	0.572	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		33	137	33	137	---	---	---	---
RBBP8NL	140893	broad.mit.edu	37	20	60987708	60987708	+	Silent	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr20:60987708C>T	ENST00000252998.1	-	13	2004	c.1848G>A	c.(1846-1848)agG>agA	p.R616R		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	616						extracellular space (GO:0005615)		p.R616R(1)									AGGCCCGCTTCCTCTTCCGTG	0.697																																						uc002ycw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1846-1848)AGG>AGA		hypothetical protein LOC140893							66.0	69.0	68.0					20																	60987708		2202	4300	6502	SO:0001819	synonymous_variant	140893							g.chr20:60987708C>T	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1848G>A	20.37:g.60987708C>T							p.R616R	NM_080833	NP_543023	Q8NC74	CT151_HUMAN	BRCA - Breast invasive adenocarcinoma(19;6.43e-06)		13	2005	-	Breast(26;2.05e-08)		616					B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	c.1848G>A	CCDS13498.1																																																																																				PASS	0.697	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		23	75	23	75	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10921956	10921956	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr21:10921956G>T	ENST00000361285.4	-	18	1396	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.S338Y|TPTE_ENST00000342420.5_Missense_Mutation_p.S318Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATATTTCAGAGGCAATAAG	0.343																																						uc002yip.1																			3	Substitution - Missense(3)		lung(2)|prostate(1)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1066-1068)TCT>TAT		transmembrane phosphatase with tensin homology							141.0	121.0	128.0					21																	10921956		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921956G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1067C>A	21.37:g.10921956G>T	ENSP00000355208:p.Ser356Tyr					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S338Y|TPTE_uc002yir.1_Missense_Mutation_p.S318Y|TPTE_uc010gkv.1_Missense_Mutation_p.S218Y	p.S356Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	18	1435	-			356			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1067C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.48	1.361420	0.24684	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85629	-2.01;-2.01;-2.01	2.26	-1.06	0.10002	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.279979	0.44483	D	0.000445	D	0.87649	0.6230	M	0.93375	3.41	0.09310	N	0.999993	P;P;P	0.44260	0.83;0.684;0.726	P;P;P	0.49561	0.583;0.583;0.615	T	0.79600	-0.1736	10	0.54805	T	0.06	-5.384	1.0677	0.01615	0.2282:0.3952:0.2255:0.1511	.	318;338;356	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	338;356;318	ENSP00000298232:S338Y;ENSP00000355208:S356Y;ENSP00000344441:S318Y	ENSP00000298232:S338Y	S	-	2	0	TPTE	9943827	0.017000	0.18338	0.002000	0.10522	0.006000	0.05464	1.397000	0.34543	-0.456000	0.07043	-1.490000	0.00973	TCT		PASS	0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			17	191	17	191	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33368230	33368230	+	Silent	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr21:33368230G>T	ENST00000270112.2	+	10	1815	c.1455G>T	c.(1453-1455)cgG>cgT	p.R485R	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	485					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R485R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGAAGGACCGGAAGGCCTCCA	0.572																																						uc002yph.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|skin(1)	2						c.(1453-1455)CGG>CGT		hormonally upregulated Neu-associated kinase							43.0	39.0	40.0					21																	33368230		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33368230G>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1455G>T	21.37:g.33368230G>T							p.R485R	NM_014586	NP_055401	P57058	HUNK_HUMAN			10	1815	+			485						Silent	SNP	ENST00000270112.2	37	c.1455G>T	CCDS13610.1																																																																																				PASS	0.572	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		8	31	8	31	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999822	45999822	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr21:45999822T>C	ENST00000400372.1	-	1	659	c.634A>G	c.(634-636)Acc>Gcc	p.T212A	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	212	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T212A(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGCAGGAGGTGGTGCAGCAA	0.647																																						uc002zfl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)ACC>GCC		keratin associated protein 10-5							131.0	136.0	134.0					21																	45999822		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999822T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.634A>G	21.37:g.45999822T>C	ENSP00000383223:p.Thr212Ala					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T212A	NM_198694	NP_941967	P60370	KR105_HUMAN			1	660	-			212			22 X 5 AA repeats of C-C-X(3).|18.		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.634A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	t	9.106	1.005360	0.19199	.	.	ENSG00000241123	ENST00000400372	T	0.00664	5.92	2.8	-5.61	0.02489	.	.	.	.	.	T	0.01061	0.0035	L	0.33792	1.035	0.09310	N	1	P	0.38223	0.623	P	0.49953	0.627	T	0.26985	-1.0087	9	0.38643	T	0.18	.	4.9012	0.13775	0.4063:0.0:0.4344:0.1592	.	212	P60370	KR105_HUMAN	A	212	ENSP00000383223:T212A	ENSP00000383223:T212A	T	-	1	0	KRTAP10-5	44824250	0.009000	0.17119	0.000000	0.03702	0.525000	0.34531	-1.265000	0.02844	-1.556000	0.01695	0.254000	0.18369	ACC		PASS	0.647	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			7	143	7	143	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33960856	33960856	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr22:33960856C>A	ENST00000354992.2	-	7	1336	c.765G>T	c.(763-765)tgG>tgT	p.W255C	LARGE_ENST00000402320.1_Missense_Mutation_p.W255C|LARGE_ENST00000452586.2_Missense_Mutation_p.W54C|LARGE_ENST00000337431.2_Missense_Mutation_p.W255C|LARGE_ENST00000397394.2_Missense_Mutation_p.W255C|LARGE_ENST00000437602.2_Missense_Mutation_p.W255C	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	255					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.W255C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GGAACACAGCCCACAGCTCTG	0.468																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(763-765)TGG>TGT		like-glycosyltransferase							136.0	118.0	124.0					22																	33960856		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33960856C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.765G>T	22.37:g.33960856C>A	ENSP00000347088:p.Trp255Cys					LARGE_uc011amd.1_Missense_Mutation_p.W54C|LARGE_uc003ane.3_Missense_Mutation_p.W255C|LARGE_uc010gwp.2_Missense_Mutation_p.W255C|LARGE_uc011ame.1_Missense_Mutation_p.W187C|LARGE_uc011amf.1_Missense_Mutation_p.W255C|LARGE_uc010gwq.1_RNA	p.W255C	NM_004737	NP_004728	O95461	LARGE_HUMAN			7	1344	-		Lung NSC(1;0.219)	255			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.765G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611888	0.87258	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.86	5.86	0.93980	.	0.110348	0.64402	D	0.000002	T	0.78842	0.4347	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.91635	0.992;0.986;0.999;0.992	T	0.82938	-0.0209	10	0.87932	D	0	-5.8142	20.5632	0.99335	0.0:1.0:0.0:0.0	.	255;54;255;255	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	C	255;255;255;255;54;255;54	ENSP00000347088:W255C;ENSP00000336636:W255C;ENSP00000380549:W255C;ENSP00000385223:W255C;ENSP00000407917:W54C;ENSP00000388544:W255C;ENSP00000403841:W54C	ENSP00000336636:W255C	W	-	3	0	LARGE	32290856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.372000	0.79612	2.937000	0.99478	0.650000	0.86243	TGG		PASS	0.468	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		94	80	94	80	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	39996588	39996588	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr22:39996588G>A	ENST00000402142.3	+	3	412	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G138R|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G138R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G138R|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G138R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G138R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	138					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G138R(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTGGCCCTGGGGATTTTTGG	0.562																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(412-414)GGG>AGG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						89.0	87.0	88.0					22																	39996588		1933	4156	6089	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39996588G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.412G>A	22.37:g.39996588G>A	ENSP00000385019:p.Gly138Arg					CACNA1I_uc003ayd.2_Missense_Mutation_p.G138R|CACNA1I_uc003aye.2_Missense_Mutation_p.G53R|CACNA1I_uc003ayf.2_Missense_Mutation_p.G53R	p.G138R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			3	412	+	Melanoma(58;0.0749)		138			I.|Helical; Name=S2 of repeat I; (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.412G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454611	0.84209	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	4.71	3.66	0.41972	Ion transport (1);	0.240546	0.40908	D	0.000989	D	0.99269	0.9745	M	0.87456	2.885	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99222	1.0879	10	0.87932	D	0	.	14.0259	0.64586	0.0:0.0:0.8477:0.1523	.	138;138;138;138	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	R	138	ENSP00000385019:G138R;ENSP00000384093:G138R;ENSP00000383887:G138R;ENSP00000385680:G138R;ENSP00000337829:G138R;ENSP00000383028:G138R	ENSP00000337829:G138R	G	+	1	0	CACNA1I	38326534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.517000	0.98020	1.142000	0.42291	0.655000	0.94253	GGG		PASS	0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		18	28	18	28	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50564637	50564637	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr22:50564637A>T	ENST00000262794.5	+	12	1837	c.1754A>T	c.(1753-1755)aAa>aTa	p.K585I	MOV10L1_ENST00000395858.3_Missense_Mutation_p.K585I|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K565I|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K585I|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	585					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.K565I(1)|p.K585I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTAGGTGATAAACTGATTTTA	0.348																																						uc003bjj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1753-1755)AAA>ATA		MOV10-like 1 isoform 1							91.0	82.0	85.0					22																	50564637		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50564637A>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1754A>T	22.37:g.50564637A>T	ENSP00000262794:p.Lys585Ile					MOV10L1_uc003bjk.3_Missense_Mutation_p.K585I|MOV10L1_uc011arp.1_Missense_Mutation_p.K565I|MOV10L1_uc011arq.1_Missense_Mutation_p.K346I|MOV10L1_uc010hao.1_Intron	p.K585I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	12	1837	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	585					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1754A>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746754	0.69418	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86366	-1.92;-1.92;-1.51;-2.11	5.46	4.41	0.53225	.	0.093487	0.64402	D	0.000001	D	0.91546	0.7330	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.978;0.999	D;D;P;D	0.83275	0.996;0.989;0.703;0.962	D	0.88831	0.3305	10	0.23302	T	0.38	-29.8957	10.4177	0.44331	0.8356:0.1644:0.0:0.0	.	346;565;585;585	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	I	585;585;585;565	ENSP00000438978:K585I;ENSP00000262794:K585I;ENSP00000379199:K585I;ENSP00000438542:K565I	ENSP00000262794:K585I	K	+	2	0	MOV10L1	48906764	1.000000	0.71417	0.989000	0.46669	0.966000	0.64601	3.152000	0.50677	0.874000	0.35823	-0.313000	0.08912	AAA		PASS	0.348	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		13	45	13	45	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212893	26212893	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:26212893C>G	ENST00000379034.1	+	2	1079	c.930C>G	c.(928-930)ttC>ttG	p.F310L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	310	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F310L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCTGGGAGTTCCTGGGTCTGT	0.498																																						uc004dbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(928-930)TTC>TTG		melanoma antigen family B, 6							193.0	187.0	189.0					X																	26212893		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212893C>G	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.930C>G	X.37:g.26212893C>G	ENSP00000368320:p.Phe310Leu					MAGEB6_uc010ngc.1_Missense_Mutation_p.F90L	p.F310L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1079	+			310			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.930C>G	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975553	0.34848	.	.	ENSG00000176746	ENST00000379034	T	0.04603	3.59	3.29	0.486	0.16836	.	0.462526	0.21311	U	0.076635	T	0.17408	0.0418	M	0.84511	2.7	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	T	0.03384	-1.1042	10	0.51188	T	0.08	.	5.5364	0.17013	0.0:0.5925:0.0:0.4075	.	310	Q8N7X4	MAGB6_HUMAN	L	310	ENSP00000368320:F310L	ENSP00000368320:F310L	F	+	3	2	MAGEB6	26122814	0.000000	0.05858	0.014000	0.15608	0.019000	0.09904	-0.085000	0.11250	-0.024000	0.13941	-0.197000	0.12766	TTC		PASS	0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		142	67	142	67	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50213033	50213033	+	RNA	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:50213033C>T	ENST00000376025.2	-	0	704							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTTTGCTTACCTTTATTCTGG	0.577																																						uc010njr.1																			0				ovary(1)|kidney(1)	2						c.(643-645)AAG>AAA		diacylglycerol kinase kappa							44.0	41.0	42.0					X																	50213033		1950	4127	6077			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213033C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213033C>T							p.K215K	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			1	705	-	Ovarian(276;0.236)		215					B2RP91	Silent	SNP	ENST00000376025.2	37	c.645G>A																																																																																					PASS	0.577	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		19	14	19	14	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54955360	54955360	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:54955360G>A	ENST00000173898.7	+	12	2315	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N	TRO_ENST00000420798.2_Missense_Mutation_p.D266N|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D338N|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	735					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D735N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCTTCAGCGATGGTGCTAG	0.527																																						uc004dtq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2203-2205)GAT>AAT		trophinin isoform 5							46.0	48.0	47.0					X																	54955360		2058	4201	6259	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955360G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2203G>A	X.37:g.54955360G>A	ENSP00000173898:p.Asp735Asn					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D266N|TRO_uc004dtw.2_Missense_Mutation_p.D338N|TRO_uc004dtx.2_Missense_Mutation_p.D118N	p.D735N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	2310	+			735					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2203G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	1.215	-0.628509	0.03610	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.09255	3.0;3.0;3.0	2.82	-1.43	0.08884	.	.	.	.	.	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B;B	0.29301	0.136;0.241	B;B	0.17433	0.01;0.018	T	0.36792	-0.9733	9	0.52906	T	0.07	.	0.2044	0.00149	0.2434:0.1663:0.2545:0.3358	.	338;735	B1AKE9;Q12816	.;TROP_HUMAN	N	735;266;338	ENSP00000173898:D735N;ENSP00000405126:D266N;ENSP00000364181:D338N	ENSP00000173898:D735N	D	+	1	0	TRO	54972085	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.782000	0.04643	-0.515000	0.06479	-0.516000	0.04426	GAT		PASS	0.527	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		11	8	11	8	---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63488712	63488712	+	Missense_Mutation	SNP	T	T	C	rs137876373		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:63488712T>C	ENST00000374852.3	-	14	1887	c.1820A>G	c.(1819-1821)gAc>gGc	p.D607G	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	607						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.D607G(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATGGTGGAGGTCTGCACCCTG	0.527																																						uc004dvs.2																			3	Whole gene deletion(2)|Substitution - Missense(1)		ovary(1)|lung(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1819-1821)GAC>GGC		myotubularin related protein 8							84.0	63.0	70.0					X																	63488712		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488712T>C	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1820A>G	X.37:g.63488712T>C	ENSP00000363985:p.Asp607Gly					MTMR8_uc011mou.1_Intron	p.D607G	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			14	1888	-			607					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1820A>G	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	8.182	0.794153	0.16327	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.94723	-3.5	2.7	0.24	0.15489	.	0.722110	0.11379	U	0.569974	D	0.84160	0.5411	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.73541	-0.3950	10	0.56958	D	0.05	.	2.8027	0.05419	0.0:0.1698:0.3105:0.5197	.	607	Q96EF0	MTMR8_HUMAN	G	607;493	ENSP00000363985:D607G	ENSP00000247400:D493G	D	-	2	0	MTMR8	63405437	0.067000	0.21026	0.001000	0.08648	0.820000	0.46376	1.419000	0.34793	-0.034000	0.13713	0.356000	0.21956	GAC		PASS	0.527	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		29	17	29	17	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64749594	64749594	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:64749594G>C	ENST00000374811.3	-	5	719	c.679C>G	c.(679-681)Cca>Gca	p.P227A	LAS1L_ENST00000312391.8_Missense_Mutation_p.P227A|LAS1L_ENST00000374804.5_Missense_Mutation_p.P185A|LAS1L_ENST00000374807.5_Missense_Mutation_p.P227A	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	227					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P227A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TGAGGCTCTGGTTTCTGTTCT	0.483																																						uc004dwa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(679-681)CCA>GCA		LAS1-like							243.0	203.0	216.0					X																	64749594		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64749594G>C	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.679C>G	X.37:g.64749594G>C	ENSP00000363944:p.Pro227Ala					LAS1L_uc004dwc.1_Missense_Mutation_p.P227A|LAS1L_uc004dwd.1_Missense_Mutation_p.P185A	p.P227A	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			5	751	-			227					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.679C>G	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	6.955	0.546029	0.13312	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.08	0.253	0.15551	.	0.943259	0.08853	N	0.884151	T	0.29355	0.0731	L	0.57536	1.79	0.09310	N	1	B;B;P	0.40970	0.206;0.372;0.734	B;B;B	0.37731	0.088;0.08;0.257	T	0.16335	-1.0406	9	0.33141	T	0.24	.	3.6796	0.08305	0.3834:0.0:0.4481:0.1685	.	185;227;227	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	A	227;227;185;227	.	ENSP00000308649:P227A	P	-	1	0	LAS1L	64666319	0.007000	0.16637	0.000000	0.03702	0.079000	0.17450	0.162000	0.16501	-0.217000	0.10033	-0.192000	0.12808	CCA		PASS	0.483	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		119	69	119	69	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71830999	71830999	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:71830999C>T	ENST00000373542.4	-	22	2564	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q	PHKA1_ENST00000541944.1_Missense_Mutation_p.R743Q|PHKA1_ENST00000339490.3_Missense_Mutation_p.R802Q|PHKA1_ENST00000373545.3_Missense_Mutation_p.R743Q|PHKA1_ENST00000373539.3_Missense_Mutation_p.R802Q	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	802					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R802Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGTAGCACTCCGTTCATTATA	0.428													C|||	1	0.000264901	0.0	0.0	3775	,	,		12294	0.001		0.0	False		,,,				2504	0.0					uc004eax.3																			1	Substitution - Missense(1)	p.R802W(1)	lung(1)	ovary(3)|skin(1)	4						c.(2404-2406)CGG>CAG		phosphorylase kinase, alpha 1 (muscle) isoform							83.0	73.0	76.0					X																	71830999		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71830999C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2405G>A	X.37:g.71830999C>T	ENSP00000362643:p.Arg802Gln					PHKA1_uc004eay.3_Missense_Mutation_p.R802Q|PHKA1_uc011mqi.1_Missense_Mutation_p.R743Q	p.R802Q	NM_002637	NP_002628	P46020	KPB1_HUMAN			22	2706	-	Renal(35;0.156)		802					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2405G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876133	0.17395	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90620	-2.7;-2.69;-2.7;-2.68;-2.69	5.85	0.493	0.16878	Glycoside hydrolase 15-related (1);	0.923503	0.09445	N	0.801259	T	0.79633	0.4479	N	0.17631	0.505	0.09310	N	1	B;B;B	0.19706	0.038;0.001;0.002	B;B;B	0.15484	0.013;0.005;0.008	T	0.61888	-0.6970	10	0.12430	T	0.62	-3.2086	6.0072	0.19553	0.0:0.4232:0.1325:0.4443	.	743;802;802	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	Q	743;802;743;802;802	ENSP00000362646:R743Q;ENSP00000362643:R802Q;ENSP00000441251:R743Q;ENSP00000342469:R802Q;ENSP00000362640:R802Q	ENSP00000342469:R802Q	R	-	2	0	PHKA1	71747724	0.000000	0.05858	0.009000	0.14445	0.918000	0.54935	0.246000	0.18160	0.004000	0.14682	0.600000	0.82982	CGG		PASS	0.428	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			20	45	20	45	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73061238	73061238	+	lincRNA	SNP	C	C	G			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:73061238C>G	ENST00000429829.1	-	0	11350					NR_001564.2				X inactive specific transcript (non-protein coding)																		GAGCCAGAGACTCTTCTTTAC	0.398																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							37.0	39.0	38.0					X																	73061238		876	1991	2867			7503							g.chrX:73061238C>G	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061238C>G								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.11351G>C																																																																																					PASS	0.398	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		30	19	30	19	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650025	75650025	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:75650025C>T	ENST00000361470.2	+	1	1980	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	568	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.P568S(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGGACCTGTGCCCTTTGAAGG	0.498																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1702-1704)CCC>TCC		melanoma antigen family E, 1							33.0	29.0	30.0					X																	75650025		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650025C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1702C>T	X.37:g.75650025C>T	ENSP00000354912:p.Pro568Ser						p.P568S	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1909	+			568			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1702C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	1.336	-0.595349	0.03771	.	.	ENSG00000198934	ENST00000361470	T	0.04360	3.64	2.25	2.25	0.28309	.	.	.	.	.	T	0.03739	0.0106	N	0.12471	0.22	0.18873	N	0.999986	P	0.42649	0.786	P	0.49047	0.599	T	0.18935	-1.0321	9	0.05721	T	0.95	.	7.1934	0.25839	0.0:1.0:0.0:0.0	.	568	Q9HCI5	MAGE1_HUMAN	S	568	ENSP00000354912:P568S	ENSP00000354912:P568S	P	+	1	0	MAGEE1	75566429	0.807000	0.29009	0.436000	0.26797	0.107000	0.19398	0.434000	0.21494	1.388000	0.46506	0.538000	0.68166	CCC		PASS	0.498	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		21	12	21	12	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134115	91134115	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:91134115A>T	ENST00000373094.1	+	2	3721	c.2876A>T	c.(2875-2877)aAg>aTg	p.K959M	PCDH11X_ENST00000361655.2_Missense_Mutation_p.K959M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K959M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K959M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K959M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K959M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K959M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K959M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K959M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	959					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K959M(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAATTCGAAGCACCACATC	0.502																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2875-2877)AAG>ATG		protocadherin 11 X-linked isoform c							257.0	210.0	226.0					X																	91134115		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134115A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2876A>T	X.37:g.91134115A>T	ENSP00000362186:p.Lys959Met					PCDH11X_uc004efl.1_Missense_Mutation_p.K959M|PCDH11X_uc004efo.1_Missense_Mutation_p.K959M|PCDH11X_uc010nmv.1_Missense_Mutation_p.K959M|PCDH11X_uc004efm.1_Missense_Mutation_p.K959M|PCDH11X_uc004efn.1_Missense_Mutation_p.K959M|PCDH11X_uc004efh.1_Missense_Mutation_p.K959M|PCDH11X_uc004efj.1_Missense_Mutation_p.K959M	p.K959M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3721	+			959			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2876A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936724	0.52972	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.35	5.35	0.76521	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.76574	2.34	0.46701	D	0.999161	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.72374	-0.4313	10	0.87932	D	0	.	13.4537	0.61187	1.0:0.0:0.0:0.0	.	959;959;959;959;959;959;959;959	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	959	ENSP00000378746:K959M;ENSP00000362186:K959M;ENSP00000362189:K959M;ENSP00000355040:K959M;ENSP00000362180:K959M;ENSP00000423762:K959M;ENSP00000355105:K959M;ENSP00000384758:K959M;ENSP00000298274:K959M	ENSP00000298274:K959M	K	+	2	0	PCDH11X	91020771	1.000000	0.71417	0.986000	0.45419	0.789000	0.44602	8.621000	0.90949	1.771000	0.52183	0.486000	0.48141	AAG		PASS	0.502	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	171	4	171	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108625392	108625392	+	Silent	SNP	C	C	A			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:108625392C>A	ENST00000218006.2	-	17	3396	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1035					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L1035L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGCCCTCACTCAGATTTTGAA	0.423																																						uc004eod.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(3103-3105)CTG>CTT		guanylate cyclase 2F precursor							177.0	169.0	172.0					X																	108625392		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108625392C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3105G>T	X.37:g.108625392C>A						GUCY2F_uc011msq.1_RNA	p.L1035L	NM_001522	NP_001513	P51841	GUC2F_HUMAN			17	3381	-			1035			Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.3105G>T	CCDS14545.1																																																																																				PASS	0.423	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		113	69	113	69	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795233	142795233	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:142795233G>T	ENST00000370498.1	-	2	1198	c.445C>A	c.(445-447)Cag>Aag	p.Q149K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	149								p.V22L(2)|p.Q149K(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCCTCCTGTGAAGATCCT	0.527																																						uc004fbz.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(445-447)CAG>AAG		SPANX-N2 protein							266.0	246.0	253.0					X																	142795233		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795233G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.445C>A	X.37:g.142795233G>T	ENSP00000359529:p.Gln149Lys						p.Q149K	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1199	-	Acute lymphoblastic leukemia(192;6.56e-05)		149					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.445C>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.854100	0.00558	.	.	ENSG00000203924	ENST00000370498	T	0.06371	3.31	0.656	-1.31	0.09230	.	.	.	.	.	T	0.02304	0.0071	N	0.20530	0.585	0.09310	N	1	B	0.30727	0.292	B	0.14578	0.011	T	0.43653	-0.9378	8	0.02654	T	1	.	.	.	.	.	149	Q5MJ10	SPXN2_HUMAN	K	149	ENSP00000359529:Q149K	ENSP00000359529:Q149K	Q	-	1	0	SPANXN2	142622899	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.152000	0.16302	-1.341000	0.02225	-0.553000	0.04205	CAG		PASS	0.527	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		198	131	198	131	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795311	142795311	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:142795311G>T	ENST00000370498.1	-	2	1120	c.367C>A	c.(367-369)Cag>Aag	p.Q123K		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	123								p.V48L(1)|p.Q123K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTCCTCCTGTGAAGATCCT	0.522																																						uc004fbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(367-369)CAG>AAG		SPANX-N2 protein							27.0	25.0	26.0					X																	142795311		1486	3092	4578	SO:0001583	missense	494119							g.chrX:142795311G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.367C>A	X.37:g.142795311G>T	ENSP00000359529:p.Gln123Lys						p.Q123K	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1121	-	Acute lymphoblastic leukemia(192;6.56e-05)		123					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.367C>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	0.058	-1.231543	0.01505	.	.	ENSG00000203924	ENST00000370498	T	0.06371	3.31	0.576	-1.15	0.09709	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.23018	0.043	T	0.37619	-0.9698	8	0.02654	T	1	.	.	.	.	.	123	Q5MJ10	SPXN2_HUMAN	K	123	ENSP00000359529:Q123K	ENSP00000359529:Q123K	Q	-	1	0	SPANXN2	142622977	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.672000	0.25187	-0.422000	0.07405	-0.632000	0.03989	CAG		PASS	0.522	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		14	275	14	275	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153279561	153279561	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrX:153279561G>C	ENST00000369980.3	-	11	1638	c.1471C>G	c.(1471-1473)Ctg>Gtg	p.L491V	IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000429936.2_Missense_Mutation_p.L517V|IRAK1_ENST00000393687.2_Missense_Mutation_p.L491V|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of 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)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.L491V(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGCCCAGGCCCAGCTCA	0.692																																						uc004fjs.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1471-1473)CTG>GTG		interleukin-1 receptor-associated kinase 1							12.0	14.0	13.0					X																	153279561		2158	4220	6378	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153279561G>C	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1471C>G	X.37:g.153279561G>C	ENSP00000358997:p.Leu491Val					IRAK1_uc004fjr.1_Missense_Mutation_p.L491V|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.L517V	p.L491V	NM_001569	NP_001560	P51617	IRAK1_HUMAN			11	1550	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		491			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1471C>G	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.257|7.257	0.604475|0.604475	0.14002|0.14002	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000455690;ENST00000393687;ENST00000429936|ENST00000444254;ENST00000443220	T;T;T;T|.	0.65364|.	-0.15;1.85;-0.15;-0.15|.	5.4|5.4	1.36|1.36	0.22044|0.22044	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.558034|.	0.14915|.	N|.	0.291012|.	T|T	0.38295|0.38295	0.1035|0.1035	L|L	0.27053|0.27053	0.805|0.805	0.48901|0.48901	D|D	0.99972|0.99972	P;P|.	0.35684|.	0.515;0.459|.	B;B|.	0.41412|.	0.356;0.242|.	T|T	0.06770|0.06770	-1.0808|-1.0808	10|5	0.20046|.	T|.	0.44|.	-8.4098|-8.4098	5.2685|5.2685	0.15613|0.15613	0.1641:0.0:0.4661:0.3698|0.1641:0.0:0.4661:0.3698	.|.	491;491|.	P51617;P51617-2|.	IRAK1_HUMAN;.|.	V|R	491;71;491;517|46;239	ENSP00000358997:L491V;ENSP00000411809:L71V;ENSP00000377291:L491V;ENSP00000392662:L517V|.	ENSP00000358997:L491V|.	L|P	-|-	1|2	2|0	IRAK1|IRAK1	152932755|152932755	0.921000|0.921000	0.31238|0.31238	0.294000|0.294000	0.24946|0.24946	0.494000|0.494000	0.33585|0.33585	0.700000|0.700000	0.25601|0.25601	0.120000|0.120000	0.18254|0.18254	-0.297000|-0.297000	0.09499|0.09499	CTG|CCT		PASS	0.692	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			19	8	19	8	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103468777	103468777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr1:103468777delC	ENST00000370096.3	-	21	2304	c.1992delG	c.(1990-1992)gggfs	p.G664fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G625fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G676fs|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G548fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	664	Collagen-like 4.|Collagen-like 5.|Triple-helical region.				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)			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)		ATACAGGCTGCCCTGGAGCTC	0.443																																						uc001dul.2																			0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1990-1992)GGGfs		alpha 1 type XI collagen isoform A							38.0	42.0	41.0					1																	103468777		2203	4300	6503	SO:0001589	frameshift_variant	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.chr1:103468777delC	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.1992delG	1.37:g.103468777delC	ENSP00000359114:p.Gly664fs					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Frame_Shift_Del_p.G676fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.G625fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.G548fs	p.G664fs	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	21	2310	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	664			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.1992delG	CCDS778.1																																																																																					0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		28	25	28	25	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179669357	179669357	+	Frame_Shift_Del	DEL	C	C	-	rs552620474		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:179669357delC	ENST00000591111.1	-	2	237	c.13delG	c.(13-15)gcafs	p.A5fs	TTN_ENST00000360870.5_Frame_Shift_Del_p.A5fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.A5fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.A5fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.A5fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.A5fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.A5fs			Q8WZ42	TITIN_HUMAN	titin	31854					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGTCGGTGCTTGAGTTGTC	0.468																																						uc002und.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13-15)GCAfs		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							113.0	95.0	101.0					2																	179669357		2203	4300	6503	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179669357delC	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.13delG	2.37:g.179669357delC	ENSP00000465570:p.Ala5fs					TTN_uc010zfg.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfh.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfi.1_Frame_Shift_Del_p.A5fs|TTN_uc010zfj.1_Frame_Shift_Del_p.A5fs|TTN_uc002unb.2_Frame_Shift_Del_p.A5fs	p.A5fs			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		2	238	-			5					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.13delG																																																																																						0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	57	55	57	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226273811	226273818	+	Splice_Site	DEL	TAAAGCGG	TAAAGCGG	-			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr2:226273811_226273818delTAAAGCGG	ENST00000272907.6	+	2	628_634	c.215_221delTAAAGCGG	c.(214-222)ataaagcgg>ag	p.IKR72fs	NYAP2_ENST00000409269.2_Splice_Site_p.IKR72fs	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	72					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAGAAGCAATAAAGCGGtaaatataaa	0.38																																						uc002voe.2																			0				ovary(2)|central_nervous_system(1)	3						c.e2+1		hypothetical protein LOC57624																																				SO:0001630	splice_region_variant	57624							g.chr2:226273811_226273818delTAAAGCGG	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.221+1TAAAGCGG>-	2.37:g.226273811_226273818delTAAAGCGG						KIAA1486_uc010fxa.1_Splice_Site_p.R69_splice	p.R74_splice	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	396	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)						A2RRN4|Q96NL2	Splice_Site	DEL	ENST00000272907.6	37	c.221_splice	CCDS46529.1																																																																																					0.380	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	Frame_Shift_Del	19	11	19	11	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133384974	133384974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr12:133384974delC	ENST00000450791.2	-	4	864	c.681delG	c.(679-681)gggfs	p.G227fs	GOLGA3_ENST00000545875.1_Frame_Shift_Del_p.G227fs|GOLGA3_ENST00000537452.1_Frame_Shift_Del_p.G227fs|GOLGA3_ENST00000456883.2_Frame_Shift_Del_p.G227fs|GOLGA3_ENST00000204726.3_Frame_Shift_Del_p.G227fs			Q08378	GOGA3_HUMAN	golgin A3	227	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTGCCGGAAGCCCCAGGCTGC	0.522																																						uc001ukz.1																			0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(679-681)GGGfs		Golgi autoantigen, golgin subfamily a, 3							141.0	162.0	155.0					12																	133384974		2203	4300	6503	SO:0001589	frameshift_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384974delC	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.681delG	12.37:g.133384974delC	ENSP00000410378:p.Gly227fs					GOLGA3_uc001ula.1_Frame_Shift_Del_p.G227fs|GOLGA3_uc001ulb.2_Frame_Shift_Del_p.G227fs	p.G227fs	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1240	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	227			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Frame_Shift_Del	DEL	ENST00000450791.2	37	c.681delG	CCDS9281.1																																																																																					0.522	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		238	170	238	170	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs377391469|rs142406301		TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site|SMIM5_ENST00000375215.3_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function																														uc010dgl.2																			1	Unknown(1)		upper_aerodigestive_tract(1)	kidney(3)	3						c.e12-1	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1																																				SO:0001630	splice_region_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73626918_73626919insTG	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1->CA	17.37:g.73626921_73626922dupTG						RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	p.D529_splice	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1742	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)							Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	INS	ENST00000317905.5	37	c.1586_splice	CCDS42380.1																																																																																					0.644	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	Intron	6	5	6	5	---	---	---	---
MT-ND6	4541	broad.mit.edu	37	M	14504	14504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-39-5016-01A-01D-1441-08	TCGA-39-5016-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d63a0a46-7676-40f5-8e03-b8317d243c73	03c66691-71bc-4595-a00b-af12b4a12d93	g.chrM:14504delA	ENST00000361681.2	-	1	169	c.170delT	c.(169-171)ttafs	p.L57fs	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	57					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CTAAATAAATTAAAAAAACTA	0.423																																						uc004cox.3																			0													Homo sapiens NADH dehydrogenase subunit 5 (MTND5) mRNA, RNA 5, complete cds; mitochondrial gene for mitochondrial product.																																				SO:0001589	frameshift_variant	0							g.chrM:14504delA			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.170delT	M.37:g.14504delA	ENSP00000354665:p.Leu57fs					uc004coy.2_5'Flank|uc004coz.1_5'Flank								1		+								Q34774|Q8HG30	RNA	DEL	ENST00000361681.2	37	c.2168delA																																																																																						0.423	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		6	7	6	7	---	---	---	---
